Details of Disease | DrugMAP

General Information of Disease (ID: DISDC3N5)

Disease Name	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Synonyms	NEDHCAS; Glycosylphosphatidylinositol Biosynthesis Defect 22; neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISYOKTG: Mendelian neurodevelopmental disorder DISLZR99: Disorder of GPI anchor biosynthesis DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DISDC3N5: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Disease Identifiers	MONDO ID MONDO_0030037 UMLS CUI C5394372 OMIM ID 618879 MedGen ID 1710849

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIGK	OTAFSYLD	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26.