Multiple congenital anomalies-hypotonia-seizures syndrome

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Subtype of: Multiple congenital anomalies
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
multiple congenital anomalies-hypotonia-seizures syndrome
MONDO_0010466MONDO_0013563MONDO_0014165
PIGA Unknown
22305531
Open Targets
PIGP Unknown
28334793 31139695 32042915 37125481
Open Targets
PIGT Unknown
23636107 24906948 25943031 27916860 28327575 28728837 29868109 30813157 30976099 32220244 32404165 32725661 34046058 34162574 36970549
Open Targets
All3 Causal0 Unknown3
Related Diseases Diseases that share the most curated genes with Multiple congenital anomalies-hypotonia-seizures syndrome.
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Cold paroxysmal hemoglobinuria 2 shared genesPIGA, PIGT Related via 2 shared genes including PIGA, PIGT. Hemoglobinuria paroxysmal 2 shared genesPIGA, PIGT Related via 2 shared genes including PIGA, PIGT. Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 shared genePIGA Related via 1 shared gene including PIGA. Neurodevelopmental disorder with epilepsy and hemochromatosis 1 shared genePIGA Related via 1 shared gene including PIGA. Intellectual developmental disorder seizures dysmorphic skeletal 1 shared genePIGT Related via 1 shared gene including PIGT.