MCID: GLY032
MIFTS: 25

Glycosylphosphatidylinositol Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

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Aliases & Descriptions for Glycosylphosphatidylinositol Deficiency:

Name: Glycosylphosphatidylinositol Deficiency 49 11 45 65 67
Pulmonary Interstitial Glycogenosis 65
 
Gpi Deficiency 45
Gpid 67


Classifications:



External Ids:

OMIM49 610293
MedGen34 C1853205

Summaries for Glycosylphosphatidylinositol Deficiency

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UniProtKB/Swiss-Prot:67 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 pulmonary interstitial glycogenosis, is related to hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and hemolytic anemia, and has symptoms including autosomal recessive inheritance, seizures and portal hypertension. 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:49 610293

Related Diseases for Glycosylphosphatidylinositol Deficiency

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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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 portal hypertension HP:0001409
4 splenomegaly HP:0001744
5 hepatomegaly HP:0002240
6 portal vein thrombosis HP:0030242

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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Anatomical Context for Glycosylphosphatidylinositol Deficiency

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Animal Models for Glycosylphosphatidylinositol Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Glycosylphosphatidylinositol Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Glycosylphosphatidylinositol Deficiency

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Articles related to Glycosylphosphatidylinositol Deficiency:

idTitleAuthorsYear
1
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. (26419326)
2015
2
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (26293662)
2015
3
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. (22228761)
2012
4
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (16767100)
2006
5
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 pathways (with members indented)ScoreTop 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:00162549.8PIGM, PIGV
2GPI anchor biosynthetic processGO:00065069.8PIGM, PIGV
3C-terminal protein lipidationGO:00065019.6PIGM, PIGV
4post-translational protein modificationGO:00436879.3PIGM, PIGV

Molecular functions related to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring hexosyl groupsGO:00167589.3PIGM, PIGV

Sources for Glycosylphosphatidylinositol Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet