Details of Disease | DrugMAP

General Information of Disease (ID: DIS4X154)

Disease Name	Glycosylphosphatidylinositol biosynthesis defect 15
Synonyms	developmental delay, epilepsy, cerebellar atrophy, and osteopenia; GPIBD15; glycosylphosphatidylinositol biosynthesis defect 15
Definition	A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISMFQKM: Developmental anomaly of metabolic origin DISLZR99: Disorder of GPI anchor biosynthesis DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DIS4X154: Glycosylphosphatidylinositol biosynthesis defect 15
Disease Identifiers	MONDO ID MONDO_0060627 UMLS CUI C4540520 OMIM ID 617810 MedGen ID 1615160 Orphanet ID 529665 SNOMED CT ID 1217381009

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
GPAA1	OTWVRR35	Strong	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.