Genes associated with “muscular dystrophy”
How are genes scored? (0–100 composite)
Strong Candidates
43 genesdystrophin
Duchenne muscular dystrophy
LARGE xylosyl- and glucuronyltransferase 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
dysferlin
Miyoshi muscular dystrophy 1
laminin subunit alpha 2
congenital merosin-deficient muscular dystrophy 1A
lamin A/C
congenital muscular dystrophy due to LMNA mutation
beta-1,3-N-acetylgalactosaminyltransferase 2
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
trafficking protein particle complex subunit 11
autosomal recessive limb-girdle muscular dystrophy type R18
jagged canonical Notch ligand 2
muscular dystrophy, limb-girdle, autosomal recessive 27
plectin
autosomal recessive limb-girdle muscular dystrophy type 2Q
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
autosomal recessive limb-girdle muscular dystrophy type 2M
Miyoshi muscular dystrophy 3
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
facioscapulohumeral muscular dystrophy 2
autosomal recessive limb-girdle muscular dystrophy type 2P
Ullrich congenital muscular dystrophy 2
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
DPM3-congenital disorder of glycosylation
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Ullrich congenital muscular dystrophy 1A
autosomal recessive limb-girdle muscular dystrophy type 2A
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
autosomal recessive limb-girdle muscular dystrophy type 2G
autosomal recessive limb-girdle muscular dystrophy type 2C
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
autosomal recessive limb-girdle muscular dystrophy type 2H
autosomal recessive limb-girdle muscular dystrophy type 2U
autosomal recessive limb-girdle muscular dystrophy type 2D
autosomal recessive limb-girdle muscular dystrophy type 2E
autosomal recessive limb-girdle muscular dystrophy type 2F
tibial muscular dystrophy
collagen type VI alpha 3 chain
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
collagen type VI alpha 2 chain
rigid spine muscular dystrophy 1
autosomal recessive limb-girdle muscular dystrophy type 2R1
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
autosomal recessive limb-girdle muscular dystrophy type 2Y
four and a half LIM domains 1
autosomal dominant limb-girdle muscular dystrophy type 1G
Consider
21 genesmyosin heavy chain 7
X-linked adrenal hypoplasia congenita
ribitol xylosyltransferase 1
filamin C
fatal infantile hypertonic myofibrillar myopathy
tubulin beta 3 class III
LIM domain binding 3
EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17
MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
MIYOSHI MUSCULAR DYSTROPHY 1; MMD1
congenital generalized lipodystrophy type 4
congenital multicore myopathy with external ophthalmoplegia
congenital disorder of glycosylation type 1E
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Possible
17 genes — click to expand
creatine phosphokinase, elevated serum
muscular dystrophy, congenital, with rapid progression
LIPE-related familial partial lipodystrophy
myofibrillar myopathy 6
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
Facioscapulohumeral muscular dystrophy 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.