MCID: GLY032
MIFTS: 27

Glycosylphosphatidylinositol Deficiency malady

Neuronal diseases, Metabolic diseases, Blood diseases categories

Summaries for Glycosylphosphatidylinositol Deficiency

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Glycosylphosphatidylinositol Deficiency, also known as hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, is related to deficiency anemia and hemolytic anemia. An important gene associated with Glycosylphosphatidylinositol Deficiency is PIGM (phosphatidylinositol glycan anchor biosynthesis, class M), and among its related pathways are Metabolism and Asparagine N-linked glycosylation. The compounds phytosphingosine and sphinganine 1-phosphate have been mentioned in the context of this disorder.

Description from OMIM:46 610293

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

glycosylphosphatidylinositol deficiency 42 46 60
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 48
gpi deficiency 42
pigm-cdg 48


External Ids:

OMIM46 610293
ICD10 via Orphanet26 E88.8

Related Diseases for Glycosylphosphatidylinositol Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia10.1
2hemolytic anemia10.1
3hemoglobinuria10.0
4t cell deficiency10.0
5glucosephosphate isomerase deficiency10.0
6congenital nonspherocytic hemolytic anemia10.0
7congenital hemolytic anemia10.0
8hypophosphatasia10.0ALPL
9thrombocytopenia10.0ALPL, PIGA

Graphical network of diseases related to Glycosylphosphatidylinositol Deficiency:



Diseases related to glycosylphosphatidylinositol deficiency

Clinical Features for Glycosylphosphatidylinositol Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

610293

Clinical synopsis from OMIM:

610293

Drugs & Therapeutics for Glycosylphosphatidylinositol Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Glycosylphosphatidylinositol Deficiency

Drug clinical trials:

Search ClinicalTrials for Glycosylphosphatidylinositol Deficiency

Search NIH Clinical Center for Glycosylphosphatidylinositol Deficiency

Search CenterWatch for Glycosylphosphatidylinositol Deficiency

Genetic Tests for Glycosylphosphatidylinositol Deficiency

About this section

Anatomical Context for Glycosylphosphatidylinositol Deficiency

About this section

Animal Models for Glycosylphosphatidylinositol Deficiency or affiliated genes

About this section

Publications for Glycosylphosphatidylinositol Deficiency

About this section

Genetic Variations for Glycosylphosphatidylinositol Deficiency

About this section

Expression for genes affiliated with Glycosylphosphatidylinositol Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Glycosylphosphatidylinositol Deficiency

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Deficiency.

Pathways for genes affiliated with Glycosylphosphatidylinositol Deficiency

About this section
Sources:
53Reactome, 29KEGG
See all sources

Pathways related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.5PIGM, PIGA, PIGV
2
Hide members
8.5PIGM, PIGA, PIGV
3
Hide members
8.5PIGM, PIGA, PIGV

Compounds for genes affiliated with Glycosylphosphatidylinositol Deficiency

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phytosphingosine44 249.7PIGM, PIGA, PIGV
2sphinganine 1-phosphate44 249.7PIGM, PIGA, PIGV
3sphinganine44 249.6PIGV, PIGA, PIGM
4sphingosine 1-phosphate28 249.6PIGM, PIGA, PIGV
5dihydroceramide44 249.5PIGV, PIGA, PIGM
6sphingosine44 11 2410.5PIGM, PIGA, PIGV
7glucosylceramide44 249.4PIGM, PIGA, PIGV
8phosphatidylinositol-3,4,5-trisphosphate44 249.2PIGV, PIGA, PIGM

GO Terms for genes affiliated with Glycosylphosphatidylinositol Deficiency

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.2PIGM, PIGA, PIGV
2integral to membraneGO:0160218.0ALPL, PIGM, PIGA, PIGV

Biological processes related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GPI anchor biosynthetic processGO:0065068.7PIGA, PIGV
2preassembly of GPI anchor in ER membraneGO:0162548.6PIGM, PIGA, PIGV
3C-terminal protein lipidationGO:0065018.5PIGM, PIGA, PIGV
4cellular protein metabolic processGO:0442678.5PIGM, PIGA, PIGV
5post-translational protein modificationGO:0436878.4PIGV, PIGA, PIGM

Molecular functions related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mannosyltransferase activityGO:0000309.1PIGM, PIGV

Products for genes affiliated with Glycosylphosphatidylinositol Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycosylphosphatidylinositol Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet