Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a

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Subtype of: Congenital muscular dystrophy · Congenital muscular dystrophy due to dystroglycanopathy · Muscular dystrophy
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
MONDO_0014683
DAG1 Unknown
21388311 24052401 25934851 29337005
Open Targets
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A
MONDO_0009678
FKTN Unknown
9690476 10545611 12601708 14627679 17878207 19179078 21228398
Open Targets
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies
MONDO_0009364MONDO_0009667MONDO_0013154MONDO_0014101
POMGNT1 Unknown
11709191 12588800 15236414 17878207 19067344 19299310
Open Targets
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies
MONDO_0009364MONDO_0009667MONDO_0013154MONDO_0014101
POMK Unknown
24556084 24925318 31833209 32907597
Open Targets
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies
MONDO_0009364MONDO_0009667MONDO_0013154MONDO_0014101
POMT1 Unknown
11053679 11320179 12369018 14678799 15037715 16717220 17878207 19299310 22549409 31311558
Open Targets
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies
MONDO_0009364MONDO_0009667MONDO_0013154MONDO_0014101
POMT2 Unknown
15894594 16701995 17634419 17878207 17923109 19138766 19299310
Open Targets
All6 Causal0 Unknown6
Related Diseases Diseases that share the most curated genes with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a.
5 View disease cluster →
Muscle eye brain disease 6 shared genesDAG1, POMT1, POMT2, POMGNT1, FKTN, POMK Related via 6 shared genes including DAG1, POMT1, POMT2. Walker-warburg syndrome 6 shared genesDAG1, POMT1, POMT2, POMGNT1, FKTN, POMK Related via 6 shared genes including DAG1, POMT1, POMT2. Congenital muscular dystrophy 5 shared genesPOMT1, POMT2, POMGNT1, FKTN, POMK Related via 5 shared genes including POMT1, POMT2, POMGNT1. Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 1 shared geneDAG1 Related via 1 shared gene including DAG1. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a9 1 shared geneDAG1 Related via 1 shared gene including DAG1.