MCID: GLY032
MIFTS: 24

Glycosylphosphatidylinositol Deficiency malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

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Aliases & Descriptions for Glycosylphosphatidylinositol Deficiency:

Name: Glycosylphosphatidylinositol Deficiency 50 46 68 25 12 66
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 52
Gpi Deficiency 46
 
Pigm-Cdg 52
Gpid 68

Characteristics:

Orphanet epidemiological data:

52
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
glycosylphosphatidylinositol deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610293
Orphanet52 ORPHA83639
ICD10 via Orphanet29 E88.8
MedGen35 C1853205

Summaries for Glycosylphosphatidylinositol Deficiency

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UniProtKB/Swiss-Prot:68 Glycosylphosphatidylinositol deficiency: Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression.

MalaCards based summary: Glycosylphosphatidylinositol Deficiency, also known as hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, is related to glucose phosphate isomerase deficiency and hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, and has symptoms including hepatomegaly, hepatomegaly and seizures. An important gene associated with Glycosylphosphatidylinositol Deficiency is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways is Post-translational modification- synthesis of GPI-anchored proteins.

Description from OMIM:50 610293

Related Diseases for Glycosylphosphatidylinositol Deficiency

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Diseases related to Glycosylphosphatidylinositol Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glucose phosphate isomerase deficiency11.0
2hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency11.0
3paroxysmal nocturnal hemoglobinuria9.8
4hemoglobinuria9.8
5glycosylphosphatidylinositol deficiency8.9ALPL, PIGM, PIGV

Graphical network of diseases related to Glycosylphosphatidylinositol Deficiency:



Diseases related to glycosylphosphatidylinositol deficiency

Symptoms for Glycosylphosphatidylinositol Deficiency

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Symptoms by clinical synopsis from OMIM:

610293

Clinical features from OMIM:

610293

HPO human phenotypes related to Glycosylphosphatidylinositol Deficiency:

id Description Frequency HPO Source Accession
1 seizures HP:0001250
2 portal hypertension HP:0001409
3 splenomegaly HP:0001744
4 hepatomegaly HP:0002240
5 portal vein thrombosis HP:0030242

UMLS symptoms related to Glycosylphosphatidylinositol Deficiency:


hepatomegaly

Drugs & Therapeutics for Glycosylphosphatidylinositol Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glycosylphosphatidylinositol Deficiency

Genetic Tests for Glycosylphosphatidylinositol Deficiency

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Genetic tests related to Glycosylphosphatidylinositol Deficiency:

id Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Deficiency25

Anatomical Context for Glycosylphosphatidylinositol Deficiency

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Animal Models for Glycosylphosphatidylinositol Deficiency or affiliated genes

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Publications for Glycosylphosphatidylinositol Deficiency

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Articles related to Glycosylphosphatidylinositol Deficiency:

idTitleAuthorsYear
1
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. (27626616)
2016
2
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. (26419326)
2015
3
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (26293662)
2015
4
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. (22228761)
2012
5
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (16767100)
2006
6
Defective TCR signaling events in glycosylphosphatidylinositol-deficient T cells derived from paroxysmal nocturnal hemoglobinuria patients. (10464162)
1999

Variations for Glycosylphosphatidylinositol Deficiency

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Clinvar genetic disease variations for Glycosylphosphatidylinositol Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PIGMNM_145167.2(PIGM): c.-270C> Gsingle nucleotide variantPathogenicrs587776528GRCh37Chr 1, 160001799: 160001799

Expression for genes affiliated with Glycosylphosphatidylinositol Deficiency

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Search GEO for disease gene expression data for Glycosylphosphatidylinositol Deficiency.

Pathways for genes affiliated with Glycosylphosphatidylinositol Deficiency

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Pathways related to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3PIGM, PIGV

GO Terms for genes affiliated with Glycosylphosphatidylinositol Deficiency

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Biological processes related to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:00162549.3PIGM, PIGV

Sources for Glycosylphosphatidylinositol Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet