Details of Disease | DrugMAP

General Information of Disease (ID: DISNAPML)

Disease Name	Glycosylphosphatidylinositol biosynthesis defect 16
Synonyms	GPIBD16; mental retardation, autosomal recessive 62; intellectual disability, autosomal recessive 62; glycosylphosphatidylinositol biosynthesis defect 16
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISLZR99: Disorder of GPI anchor biosynthesis DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DISNAPML: Glycosylphosphatidylinositol biosynthesis defect 16
Disease Identifiers	MONDO ID MONDO_0040500 UMLS CUI C4540521 OMIM ID 617816 MedGen ID 1628197

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1orf105	OTALIGHW	Strong	Genetic Variation	[1]
PIGC	OTDFW5KH	Strong	Autosomal recessive	[2]
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References

1	Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. J Med Genet. 2017 Mar;54(3):196-201. doi: 10.1136/jmedgenet-2016-104202. Epub 2016 Sep 30.
2	Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. 2015 Jun 3;16(1):116. doi: 10.1186/s13059-015-0681-6.