FKRP - fukutin related protein Gene

Homo sapiens

Also known as FKTR; MDC1C; LGMD2I; LGMDR9; MDDGA5; MDDGB5; MDDGC5

Gene ID: 79147 | Gene type: protein coding

About FKRP

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,744,760-46,758,575 (from NCBI)

This gene has 27 transcripts (splice variants), 172 orthologues and is associated with 12 phenotypes. Ubiquitous expression in placenta (RPKM 3.9), kidney (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

FKRP Products(2)

mRNA	Protein	Name
NM_001039885.3	NP_001034974.1	ribitol 5-phosphate transferase FKRP
NM_024301.5	NP_077277.1	ribitol 5-phosphate transferase FKRP

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	31949166	GOA
enables phosphotransferase activity, for other substituted phosphate groups	IDA IDA: Inferred from direct assay	26923585	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27601598	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	25279699	GOA
involved in protein tetramerization	IDA IDA: Inferred from direct assay	31949166	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	19900540	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	26923585	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	19900540	GOA
located in rough endoplasmic reticulum	IDA IDA: Inferred from direct assay	15213246	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKRP Protein Structure

LicD

0
100
200
300
400
495 a.a.

Protein Preferred Names

Protein Names

ribitol 5-phosphate transferase FKRP

ribitol-5-phosphate transferase

FKRP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FKRP	Q9H9S5	FKRP	Homo sapiens	Q9H9S5	SAXS	31949166
Intra	FKRP	Q9H9S5	RXYLT1	Homo sapiens	Q9Y2B1	IF	29477842
Intra	FKRP	Q9H9S5	RXYLT1	Homo sapiens	Q9Y2B1	Anti Tag CoIP	29477842
Intra	FKRP	Q9H9S5	FKRP	Homo sapiens	Q9H9S5	X-Ray Diffraction	31949166
Intra	FKRP	Q9H9S5	FKRP	Homo sapiens	Q9H9S5	GMS	31949166

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
MDDGC5	Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Lgmdr9	Muscular Dystrophy, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related	Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Fkrp-Related Lgmd R9	Lgmd Due To Fkrp Deficiency
Lgmd Type 2i	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy Limb-Girdle Type 2i	Muscular Dystrophy-Dystroglycanopathy Type C 5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5	Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Mdc1c	Muscular Dystrophy-Dystroglycanopathy Type B5
MDDGB5	Muscular Dystrophy, Congenital, 1c
Muscular Dystrophy, Congenital, Fkrp-Related	Congenital Muscular Dystrophy 1c
Fkrp-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
Muscular Dystrophy Congenital Type 1c	Muscular Dystrophy Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type A, 5

MDDGA5	Muscular Dystrophy-Dystroglycanopathy , Type A5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A5
Muscle-Eye-Brain Disease Fkrp-Related	Walker-Warburg Syndrome Fkrp-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A5

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy	Congenital Muscular Dystrophy Due To Dystroglycanopathy
Mddg	Dystrophy, Muscular, Dystroglycanopathy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5	Mddga5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome	MDDGA1
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Muscular Dystrophy-Dystroglycanopathy , Type A1	Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
Hydrocephalus, Agyria, And Retinal Dysplasia	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
Cerebroocular Dysgenesis	Cod
Hard +/- E Syndrome	Hydrocephalus-Agyria-Retinal Dysplasia
Meb	Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease Pomt1-Related	Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
Walker-Warburg Syndrome	Walker-Warburg Syndrome Pomt1-Related
Warburg Syndrome	Wws
Dystrophy, Muscular, Dystroglycanopathy , Type A1	Walker-Warburg Congenital Muscular Dystrophy
Muscle Eye Brain Disease

Congenital Muscular Dystrophy With Cerebellar Involvement

Cmd With Cerebellar Involvement

Cmd-Crb

Congenital Muscular Dystrophy With Intellectual Disability

Cmd With Intellectual Disability

Cmd-Mr

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy	Fcmd
MDDGA4	Fukuyama Type Congenital Muscular Dystrophy
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related	Cerebromuscular Dystrophy, Fukuyama Type
Fukuyama Cmd	Fukuyama Muscular Dystrophy
Fukuyama Syndrome	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Polymicrogyria With Muscular Dystrophy	Congenital Muscular Dystrophy, Fukuyama Type
Fktn-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
Cerebromuscular Dystrophy Fukuyama Type	Congenital Muscular Dystrophy Fukuyama Type
Micropolygyria With Muscular Dystrophy	Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related

Cdags Syndrome

Craniosynostosis, Anal Anomalies, And Porokeratosis	Fukuyama Type Muscular Dystrophy
Cap Syndrome	Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Fukuda Miyanomae Nakata Syndrome	Cerebromuscular Dystrophy, Fukuyama Type
Fcmd	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Craniosynostosis And Clavicular Hypoplasia, Delayed Closure Of The Fontanel, Anal Anomalies And Genitourinary Malformations	Fukuyama-Type Muscular Dystrophy
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Fukuyama Type Congenital Muscular Dystrophy

Paresthesia

Congenital Muscular Dystrophy Without Intellectual Disability

Cmd Without Intellectual Disability	Cmd-No Mr
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability

Headache

Headache Disorder

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease	Muscle-Eye-Brain Syndrome
Meb	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
Meb Syndrome	Santavuori Congenital Muscular Dystrophy

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Sarcotubular Myopathy	Lgmd2h
Muscular Dystrophy, Limb-Girdle, Type 2h	Limb-Girdle Muscular Dystrophy Type 2h
LGMDR8	Muscular Dystrophy Hutterite Type
Muscular Dystrophy, Hutterite Type	Muscular Dystrophy Limb-Girdle Type 2h
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Lgmd Due To Trim32 Deficiency	Lgmd Type 2h
Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency	Trim32-Related Lgmd R8
Limb-Girdle Muscular Dystrophy 2h	Dystrophy, Muscular, Limb-Girdle, Type 2h

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k	Lgmd2k
MDDGC1	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
Lgmdr11	Muscular Dystrophy, Limb-Girdle, Type 2k
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome	Limb-Girdle Muscular Dystrophy Type 2k
Muscular Dystrophy Limb-Girdle Type 2k	Muscular Dystrophy-Dystroglycanopathy Type C 1
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lgmd Type 2k
Pomt1-Related Lgmd R11	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
Dystrophy, Muscular, Limb-Girdle, Type 2k	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Lgmd2e	Muscular Dystrophy, Limb-Girdle, Type 2e
LGMDR4	Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycan-Related Lgmd R4
Beta-Sarcoglycanopathy	Lgmd Due To Beta-Sarcoglycan Deficiency
Lgmd Type 2e	Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy Type 2e	Limb-Girdle Muscular Dystrophy 2e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy	Lgmd2a
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2a
Pelvofemoral Muscular Dystrophy	Primary Calpainopathy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Lgmd2f	Muscular Dystrophy, Limb-Girdle, Type 2f
Limb-Girdle Muscular Dystrophy Type 2f	LGMDR6
Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency	Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	Delta-Sarcoglycan-Related Lgmd R6
Delta-Sarcoglycanopathy	Lgmd Due To Delta-Sarcoglycan Deficiency
Lgmd Type 2f	Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy 2f	Limb-Girdle Muscular Dystrophy, Type 2f
Dystrophy, Muscular, Limb-Girdle, Type 2f

Rippling Muscle Disease 2

Rippling Muscle Disease	Rmd
Lgmd1c	RMD2
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly	Lgmd1c, Formerly
Limb-Girdle Muscular Dystrophy Type 1c	Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
Muscular Dystrophy, Limb-Girdle, Type Ic	Rippling Muscle Syndrome
Limb-Girdle Muscular Dystrophy 1c	Dystrophy, Muscular, Limb-Girdle, Type 1c
Disease, Muscle, Rippling, Type 2	Rippling Muscle Disease 1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Muscular Dystrophy, Limb-Girdle, Type 2g	Lgmd2g
LGMDR7	Limb-Girdle Muscular Dystrophy, Type 2g
Telethonin-Related Limb-Girdle Muscular Dystrophy R7	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Lgmd Due To Telethonin Deficiency	Lgmd Type 2g
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency	Limb-Girdle Muscular Dystrophy Type 2g
Telethonin-Related Lgmd R7	Limb-Girdle Muscular Dystrophy 2g
Dystrophy, Muscular, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a	Lgmd1
Muscular Dystrophy, Proximal, Type 1a	Limb-Girdle Muscular Dystrophy, Type 1a
Dystrophy, Muscular, Limb-Girdle, Type 1a

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n	Lgmd2n
MDDGC2	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
Lgmdr14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
Limb-Girdle Muscular Dystrophy Type 2n	Muscular Dystrophy, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Muscular Dystrophy-Dystroglycanopathy Type C 2
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Lgmd Type 2n
Pomt2-Related Lgmd R14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
Mdgd2c	Dystrophy, Muscular, Limb-Girdle, Type 2n

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome	AMS
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies	Eye Abnormalities

Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m	Lgmd2m
MDDGC4	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
Lgmdr13	Muscular Dystrophy, Limb-Girdle, Type 2m
Muscular Dystrophy-Dystroglycanopathy Type C 4	Fukutin-Related Limb-Girdle Muscular Dystrophy R13
Autosomal Recessive Lgmd Type 2m	Fukutin-Related Lgmd R13
Lgmd Type 2m	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
Limb-Girdle Muscular Dystrophy Type 2m	Mdgd4c
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c	Dystrophy, Muscular, Limb-Girdle, Type 2m

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1	Muscular Dystrophy-Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy Type B1
Cmd Due To Dystroglycanopathy	Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
Muscular Dystrophy Congenital Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy
Dystrophy, Muscular, Dystroglycanopathy , Type B1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b	Lgmd3
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency	Limb-Girdle Muscular Dystrophy Type 3
Muscular Dystrophy, Limb-Girdle, Type 2b

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6	MDDGB6
Mdc1d	Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d	Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related	Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6	Muscular Dystrophy Large-Related

Muscle Hypertrophy

MSLHP	Hypertrophy
Hypertrophy, Muscle

Miyoshi Muscular Dystrophy

Distal Myopathy	Distal Muscular Dystrophy
Miyoshi Myopathy	Distal Myopathies
Dystrophy, Muscular, Miyoshi	Myopathy, Distal
Distal Muscular Dystrophies

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies	Mddga
Klissencephaly Type 2 With Muscular And Ocular Involvement	Lissencephaly Type 2 With Muscular And Ocular Involvement

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12	Mddga12
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy	Dmda2
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2	Lgmd2d
Muscular Dystrophy, Limb-Girdle, Type 2d	Primary Adhalinopathy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1	Mddga1
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1	Deficiency Of Sarcoglycan Gamma
Dmda1	Gamma-Sarcoglycanopathy
Lgmd2c	Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
Maghrebian Myopathy	Muscular Dystrophy, Limb-Girdle, Type 2c
Scarmd	Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o	MDDGC3
Lgmd2o	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
Lgmdr15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
Muscular Dystrophy, Limb-Girdle, Type 2o	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
Muscular Dystrophy-Dystroglycanopathy Type C3	Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
Lgmd Type 2o	Limb-Girdle Muscular Dystrophy Type 2o
Pomgnt1-Related Lgmd R15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
Dystrophy, Muscular, Limb-Girdle, Type 2o

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g	Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2g

Muscular Dystrophy, Congenital, 1b

MDC1B	Congenital Muscular Dystrophy 1b
Cmd1b	Congenital Muscular Dystrophy Type 1b
Familial Dilated Cardiomyopathy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3	Mddga3
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Delta-Sarcoglycanopathy	Lgmd2f
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency	Limb-Girdle Muscular Dystrophy Type 2f

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd2h	Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
Muscular Dystrophy Hutterite Type	Sarcotubular Myopathy
Limb-Girdle Muscular Dystrophy Type 2h

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Nonaka Myopathy

Gne Myopathy	Hibm
Distal Myopathy With Rimmed Vacuoles	Hereditary Inclusion Body Myopathy
Ibm2	Inclusion Body Myopathy, Quadriceps-Sparing
Qsm	Dmrv
Distal Myopathy, Nonaka Type	Inclusion Body Myopathy 2
Inclusion Body Myopathy, Autosomal Recessive	NM
Nonaka Distal Myopathy	Myopathy, Distal, With Or Without Rimmed Vacuoles
Inclusion Body Myopathy, Hereditary, Autosomal Recessive	Inclusion Body Myopathy Type 2
Quadriceps-Sparing Myopathy	Quadriceps Sparing Myopathy
Rimmed Vacuole Myopathy	Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
Ibm2, Formerly	Hibm2
Hereditary Inclusion Body Myopathy Type 2	Inclusion Body Myopathy 2, Autosomal Recessive
Myopathy, Distal, With Rimmed Vacuoles	Inclusion Body Myopathy Autosomal Recessive
Myopathy, Inclusion Body, Type 2	Myopathy, Nonaka

Cardiomyopathy, Dilated, 1d

Dilated Cardiomyopathy 1d	CMD1D
Left Ventricular Noncompaction 6, Included	Lvnc6, Included
Left Ventricular Noncompaction 6	Cardiomyopathy, Dilated 1d

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy	BMD
Benign Pseudohypertrophic Muscular Dystrophy	Benign Congenital Myopathy
Becker Dystrophinopathy	Becker'S Muscular Dystrophy
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
Muscular Dystrophy Becker	Dystrophy, Muscular, Becker Type
Dystrophinopathy	Becker Dystrophy
Becker Type Dystrophy	Bmd - [Becker Muscular Dystrophy]

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome	RSMD1
Rss	Mdrs1
Eichsfeld Type Congenital Muscular Dystrophy	Desmin-Related Myopathy With Mallory Bodies
Classic Multiminicore Myopathy	Sepn1-Related Myopathy
Multicore Myopathy, Severe Classic Form	Minicore Myopathy, Severe Classic Form
Multiminicore Disease, Severe Classic Form	Muscular Dystrophy, Rigid Spine, 1
Classic Mmd	Classic Multiminicore Disease
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity	Desmin-Related Myopathy With Mallory Body-Like Inclusions
Early-Onset Desmin-Related Myopathy	Myopathy, Sepn1-Related
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity	Muscular Dystrophy, Congenital, Eichsfeld Type
Severe Classic Form Minicore Myopathy	Severe Classic Form Multicore Myopathy
Severe Classic Form Multiminicore Disease	Desmin-Related Myopathies With Mallory Bodies
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity	Rigid Spine Muscular Dystrophy-1
Rigid Spine Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Eichsfeld Type
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity	Minicore Myopathy Severe Classic Form
Multicore Myopathy Severe Classic Form	Multiminicore Disease Severe Classic Form
Dystrophy, Muscular, Rigid Spine, Type 1

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Muscular Dystrophy, Limb-Girdle, Type 1f	Lgmd1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f	LGMDD2
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2	Muscular Dystrophy Limb-Girdle Type 1f
Tnp03-Related Limb-Girdle Muscular Dystrophy D2	Lgmd Type 1f
Limb-Girdle Muscular Dystrophy Type 1f	Limb-Girdle Muscular Dystrophy 1f
Dystrophy, Muscular, Limb-Girdle, Type 1f

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Tibial Muscular Dystrophy

Tmd	Udd Myopathy
Distal Titinopathy	Finnish Tibial Muscular Dystrophy
Tardive Tibial Muscular Dystrophy	Udd Type Distal Myopathy
Udd Distal Myopathy	Udd-Markesbery Muscular Dystrophy
Distal Myopathy, Udd Type	Distal Myopathies
Tibial Muscular Dystrophy, Tardive

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency	Lgmd2q
Muscular Dystrophy, Limb-Girdle, Type 2q

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Glycogen Storage Disease Ii

Pompe Disease	Glycogen Storage Disease Type Ii
Acid Maltase Deficiency	Gsd Ii
Gaa Deficiency	Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii	GSD2
Acid Alpha-Glucosidase Deficiency	Amd
Glycogen Storage Disease, Type Ii	Pompe'S Disease
Glycogen Storage Disease Type 2	Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease	Deficiency Of Alpha-Glucosidase
Glycogenosis, Generalized, Cardiac Form	Deficiency Of Glucoamylase
Deficiency Of Maltase	Generalized Glycogenosis
Glycogenosis, Type 2	Lysosomal Alpha-1,4-Glucosidase Deficiency
Glucosidase Acid-1,4-Alpha Deficiency	Aglucosidase Alfa
Deficiency Of Lysosomal Alpha-Glucosidase	Glycogen Storage Disease Due To Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency	Gsd Due To Acid Maltase Deficiency
Gsd Type 2	Gsd Type Ii
Glycogenosis Due To Acid Maltase Deficiency	Glycogenosis Type 2
Glycogen Storage Disease 2	Cardiomegalia Glycogenica
Glycogenosis Generalized Cardiac Form	Glycogenosis Ii
Gsd-Ii	Storage Disease, Glycogen, Type Ii
Generalized Glycogen Storage Disease Of Infants	Cardiac Form Of Generalized Glycogenosis

Muscle Tissue Disease

Miyoshi Muscular Dystrophy 3

MMD3	Miyoshi Myopathy 3
Distal Anoctaminopathy	Miyoshi Muscular Dystrophy Type 3
Dystrophy, Muscular, Miyoshi, Type 3

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Emd2	Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
Scapuloilioperoneal Atrophy With Cardiopathy	Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
Hauptmann-Thannhauser Muscular Dystrophy	Cardiomyopathy, Dilated, With Quadriceps Myopathy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly	Lgmd1b, Formerly
Muscular Dystrophy, Proximal, Type 1b, Formerly	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Lgmd1b	Limb-Girdle Muscular Dystrophy 1b
Muscular Dystrophy, Proximal, Type 1b	Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Muscular Disease

Hyperkalemic Periodic Paralysis

HYPP	Gamstorp Disease
Gamstorp Episodic Adynamy	Adynamia Episodica Hereditaria With Or Without Myotonia
Familial Hyperkalemic Periodic Paralysis	Hyperkpp
Hyperpp	Adynamia Episodica Hereditaria
Primary Hyperkalemic Periodic Paralysis	Hyperkalemic Periodic Paralysis, Type 2
Sodium Channel Muscle Disease	Familial Hyperpp
Hyperkalemic Pp	Primary Hyperpp
Periodic Paralysis Hyperkalemic	Periodic Paralysis Normokalemic
NKPP	Periodic Paralysis Eukalemic
Paralysis, Hyperkalemic Periodic	Paralysis, Periodic, Hyperkalemic
Potassium Aggravated Myotonia

Emery-Dreifuss Muscular Dystrophy

Edmd	Emery-Dreifuss Syndrome
Muscular Dystrophy, Emery-Dreifuss	Humeroperoneal Neuromuscular Disease
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	Scapuloperoneal Syndrome, X-Linked
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures	Muscular Dystrophy, Emery-Dreifuss Type
Muscular Dystrophy Emery-Dreifuss	Dystrophy, Muscular, Emery-Dreifuss
Emd - [Emery-Dreifuss Muscular Dystrophy]

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Physical Disorder

Physical Illness

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04971	FKRP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FKRP	VGNC	VGNC:72524
Canis familiaris	FKRP	VGNC	VGNC:40896
Mus musculus	FKRP	MGD	MGI:2447586
Rattus norvegicus	FKRP	RGD	RGD:1305852
Felis catus	FKRP	VGNC	VGNC:62287
Bos taurus	FKRP	VGNC	VGNC:29029