MCID: GLY032
MIFTS: 40

Glycosylphosphatidylinositol Deficiency malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Summaries for Glycosylphosphatidylinositol Deficiency

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MalaCards based summary: Glycosylphosphatidylinositol Deficiency, also known as infantile cellular interstitial pneumonitis, is related to pulmonary hypertension and glucose phosphate isomerase deficiency, 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 are Post-translational modification- synthesis of GPI-anchored proteins and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The compounds Ganglioside GQ1c (d18:0/22:0) and Ganglioside GT1b (d18:0/23:0) have been mentioned in the context of this disorder.

Description from OMIM:47 610293

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 62UMLS, 49Orphanet, 28ICD10 via Orphanet
See all sources

Glycosylphosphatidylinositol Deficiency, Aliases & Descriptions:

Name: Glycosylphosphatidylinositol Deficiency 47 11 43 62
Infantile Cellular Interstitial Pneumonitis 43 49
Pulmonary Interstitial Glycogenosis 43 49
 
Pig 43 49
Gpi Deficiency 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


Characteristics (Orphanet epidemiological data):

49
infantile cellular interstitial pneumonitis:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 610293
Orphanet49 217557
ICD10 via Orphanet28 P22.8

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 venous thrombosis HP:0004936

Drugs & Therapeutics for Glycosylphosphatidylinositol Deficiency

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Drug clinical trials:

Search ClinicalTrials for Glycosylphosphatidylinositol Deficiency

Search 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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Publications for Glycosylphosphatidylinositol Deficiency

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Articles related to Glycosylphosphatidylinositol Deficiency:

idTitleAuthorsYear
1
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. (22228761)
2012
2
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (16767100)
2006
3
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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PIGMNM_145167.2(PIGM): c.-270C> Gsingle nucleotide variantPathogenicGRCh37Chr 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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5PIGV, PIGA, PIGM
2
Show member pathways
8.5PIGV, PIGA, PIGM
3
Show member pathways
8.0PIGM, PIGA, PIGV, ALPL

Compounds for genes affiliated with Glycosylphosphatidylinositol Deficiency

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Compounds related to Glycosylphosphatidylinositol Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 898)
idCompoundScoreTop Affiliating Genes
1Ganglioside GQ1c (d18:0/22:0)269.0PIGV, PIGA, PIGM
2Ganglioside GT1b (d18:0/23:0)269.0PIGM, PIGA, PIGV
3Ganglioside GT1b (d18:0/24:0)269.0PIGV, PIGA, PIGM
4Ganglioside GT1b (d18:1/23:0)269.0PIGV, PIGA, PIGM
5Ganglioside GT1b (d18:1/24:0)269.0PIGV, PIGA, PIGM
6Ganglioside GT1b (d18:1/24:1(15Z))269.0PIGV, PIGA, PIGM
7Ganglioside GT1c (d18:0/24:0)268.9PIGV, PIGA, PIGM
8Ganglioside GT1b (d18:0/22:1(13Z))268.9PIGM, PIGV, PIGA
9Ganglioside GQ1c (d18:0/22:1(13Z))268.9PIGV, PIGA, PIGM
10Ganglioside GQ1c (d18:1/22:0)268.9PIGV, PIGA, PIGM
11Ganglioside GQ1c (d18:1/22:1(13Z))268.9PIGV, PIGA, PIGM
12Ganglioside GQ1c (d18:1/23:0)268.9PIGV, PIGA, PIGM
13Ganglioside GT1c (d18:0/24:1(15Z))268.9PIGV, PIGA, PIGM
14Ganglioside GT2 (d18:0/26:1(17Z))268.9PIGA, PIGM, PIGV
15Ganglioside GT2 (d18:1/26:0)268.9PIGV, PIGA, PIGM
16Ganglioside GT2 (d18:1/26:1(17Z))268.9PIGV, PIGA, PIGM
17Ganglioside GT3 (d18:0/12:0)268.9PIGV, PIGA, PIGM
18Ganglioside GT3 (d18:0/26:1(17Z))268.9PIGV, PIGA, PIGM
19Ganglioside GT3 (d18:1/12:0)268.9PIGV, PIGA, PIGM
20Ganglioside GT2 (d18:0/26:0)268.9PIGM, PIGA, PIGV
21Ganglioside GT1c (d18:0/25:0)268.9PIGV, PIGA, PIGM
22Ganglioside GT1c (d18:1/24:1(15Z))268.9PIGV, PIGA, PIGM
23Ganglioside GT1c (d18:1/25:0)268.9PIGV, PIGA, PIGM
24Ganglioside GT1c (d18:1/26:0)268.9PIGV, PIGA, PIGM
25Ganglioside GT2 (d18:0/25:0)268.9PIGV, PIGA, PIGM
26Ganglioside GD1a (d18:0/22:1(13Z))268.9PIGV, PIGA, PIGM
27Ganglioside GD1b (d18:0/24:0)268.9PIGM, PIGA, PIGV
28Ganglioside GD1b (d18:0/24:1(15Z))268.9PIGV, PIGA, PIGM
29Ganglioside GD1b (d18:0/25:0)268.9PIGV, PIGA, PIGM
30Ganglioside GD1b (d18:1/24:1(15Z))268.9PIGV, PIGA, PIGM
31Ganglioside GD1b (d18:1/25:0)268.8PIGV, PIGA, PIGM
32Ganglioside GD1b (d18:1/26:0)268.8PIGV, PIGA, PIGM
33Ganglioside GD1a (d18:1/24:1(15Z))268.8PIGM, PIGV, PIGA
34Ganglioside GD1a (d18:0/23:0)268.8PIGV, PIGA, PIGM
35Ganglioside GD1a (d18:0/24:0)268.8PIGV, PIGA, PIGM
36Ganglioside GD1a (d18:1/23:0)268.8PIGV, PIGA, PIGM
37Ganglioside GD1a (d18:1/24:0)268.8PIGV, PIGA, PIGM
38Ganglioside GD2 (d18:0/25:0)268.8PIGV, PIGA, PIGM
39Ganglioside GD3 (d18:1/14:0)268.8PIGA, PIGM, PIGV
40Ganglioside GM3 (d18:0/18:1(11Z))268.8PIGV, PIGA, PIGM
41Ganglioside GM3 (d18:0/18:1(9Z))268.7PIGV, PIGA, PIGM
42Ganglioside GM3 (d18:0/20:0)268.7PIGV, PIGA, PIGM
43Ganglioside GM3 (d18:1/22:1(13Z))268.7PIGV, PIGA, PIGM
44Ganglioside GQ1c (d18:0/20:0)268.7PIGV, PIGA, PIGM
45Ganglioside GD3 (d18:0/26:1(17Z))268.6PIGM, PIGA, PIGV
46Ganglioside GD2 (d18:0/26:0)268.6PIGV, PIGA, PIGM
47Ganglioside GD2 (d18:0/26:1(17Z))268.5PIGV, PIGA, PIGM
48Ganglioside GD3 (d18:0/12:0)268.5PIGV, PIGA, PIGM
49Ganglioside GD2 (d18:1/26:1(15Z))268.4PIGV, PIGA, PIGM
50Ganglioside GD2 (d18:1/9Z-18:1)268.2PIGV, PIGA, PIGM

GO Terms for genes affiliated with Glycosylphosphatidylinositol Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.5PIGV, PIGA, PIGM

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

idNameGO IDScoreTop Affiliating Genes
1GPI anchor biosynthetic processGO:00065068.7PIGV, PIGA
2preassembly of GPI anchor in ER membraneGO:00162548.6PIGV, PIGA, PIGM
3C-terminal protein lipidationGO:00065018.5PIGV, PIGA, PIGM
4cellular protein metabolic processGO:00442678.5PIGV, PIGA, PIGM
5post-translational protein modificationGO:00436878.4PIGM, PIGA, PIGV

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

idNameGO IDScoreTop Affiliating Genes
1mannosyltransferase activityGO:00000309.3PIGV, PIGM

Products for genes affiliated with Glycosylphosphatidylinositol Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycosylphosphatidylinositol Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet