Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1

Log in to bookmark this disease

Bookmark This Disease

Subtype of: Congenital muscular dystrophy due to dystroglycanopathy · Muscular dystrophy · Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MONDO_0000171
POMT1 Causal
11053679 11320179 12369018 14678799 15037715 15637732 16575835 16717220 16887026 17878207 19299310 22549409 31311558
Open Targets
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1.
5 View disease cluster →
Myopathy caused by variation in POMT1 1 shared genePOMT1 Related via 1 shared gene including POMT1. Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b1 1 shared genePOMT1 Related via 1 shared gene including POMT1. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a 1 shared genePOMT1 Related via 1 shared gene including POMT1. Pyridoxine dependent epilepsy 1 shared genePOMT1 Related via 1 shared gene including POMT1. Sensory neuropathy 1 shared genePOMT1 Related via 1 shared gene including POMT1.