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hyperphosphatasia with impaired intellectual development syndrome 1

Summary

Synonym

GPIBD2
HPMRS1
glycosylphosphatidylinositol biosynthesis defect 2
hyperphosphatasia with mental retardation syndrome 1

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.

Super Class

hyperphosphatasia with impaired intellectual development syndrome

External Links

Disease Ontology

DOID:0070433

UMLS

C4551502

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
55650	PIGV	phosphatidylinositol glycan anchor biosynthesis class V	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **41 - 50** of 89 in total

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HPO ID	HPO Term
HP:0001792	Small nail
HP:0001999	Abnormal facial shape
HP:0002069	Bilateral tonic-clonic seizure
HP:0002251	Aganglionic megacolon
HP:0002342	Intellectual disability, moderate
HP:0002392	EEG with polyspike wave complexes
HP:0002553	Highly arched eyebrow
HP:0002558	Supernumerary nipple
HP:0002650	Scoliosis
HP:0002696	Abnormal parietal bone morphology

Displaying **all 7** entries
Gene ID	Gene Symbol	Description
27315	PGAP2	post-GPI attachment to proteins 2
284098	PIGW	phosphatidylinositol glycan anchor biosynthesis class W
55650	PIGV	phosphatidylinositol glycan anchor biosynthesis class V
84720	PIGO	phosphatidylinositol glycan anchor biosynthesis class O
84992	PIGY	phosphatidylinositol glycan anchor biosynthesis class Y
93210	PGAP3	post-GPI attachment to proteins phospholipase 3
9487	PIGL	phosphatidylinositol glycan anchor biosynthesis class L