MCID: GLY032
MIFTS: 27

Glycosylphosphatidylinositol Deficiency malady

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

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

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Aliases & Descriptions for Glycosylphosphatidylinositol Deficiency:

Name: Glycosylphosphatidylinositol Deficiency 52 70 27 12 68
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 54
Glycosylphosphatidylinositol Biosynthesis Defect 1 70
 
Pigm-Cdg 54
Gpibd1 70
Gpid 70

Characteristics:

Orphanet epidemiological data:

54
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
glycosylphosphatidylinositol deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 610293
Orphanet54 ORPHA83639
ICD10 via Orphanet31 E88.8
MedGen37 C1853205

Summaries for Glycosylphosphatidylinositol Deficiency

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UniProtKB/Swiss-Prot:70 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 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, and has symptoms including seizures, portal hypertension and splenomegaly. An important gene associated with Glycosylphosphatidylinositol Deficiency is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism. Related mouse phenotype Decreased NF-kappaB reporter expression.

Wikipedia:71 Glycosylphosphatidylinositol ( pronunciation (help·info)), or glycophosphatidylinositol, or GPI in... more...

Description from OMIM:52 610293

Related Diseases for Glycosylphosphatidylinositol Deficiency

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Graphical network of diseases related to Glycosylphosphatidylinositol Deficiency:



Diseases related to glycosylphosphatidylinositol deficiency

Symptoms & Phenotypes for Glycosylphosphatidylinositol Deficiency

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Symptoms by clinical synopsis from OMIM:

610293

Clinical features from OMIM:

610293

Human phenotypes related to Glycosylphosphatidylinositol Deficiency:

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id Description HPO Frequency HPO Source Accession
1 seizures64 HP:0001250
2 portal hypertension64 HP:0001409
3 splenomegaly64 HP:0001744
4 hepatomegaly64 HP:0002240
5 portal vein thrombosis64 HP:0030242

UMLS symptoms related to Glycosylphosphatidylinositol Deficiency:


hepatomegaly

GenomeRNAi Phenotypes related to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00312-A8.0ALPL, PIGM, PIGV, PIGW

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 Deficiency27

Anatomical Context for Glycosylphosphatidylinositol Deficiency

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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> GSNVPathogenicrs587776528GRCh37Chr 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
8.5PIGM, PIGV, PIGW
2
Show member pathways
8.0ALPL, PIGM, PIGV, PIGW

GO Terms for genes affiliated with Glycosylphosphatidylinositol Deficiency

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Cellular components related to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.3PIGM, PIGV, PIGW
2integral component of membraneGO:00160218.0ALPL, PIGM, PIGV, PIGW

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

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:00162548.5PIGM, PIGV, PIGW

Sources for Glycosylphosphatidylinositol Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet