GPID
MCID: GLY032
MIFTS: 29

Glycosylphosphatidylinositol Deficiency (GPID) malady

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

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

Aliases & Descriptions for Glycosylphosphatidylinositol Deficiency:

Name: Glycosylphosphatidylinositol Deficiency 54 66 29 13 69
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 56
Glycosylphosphatidylinositol Biosynthesis Defect 1 66
Pigm-Cdg 56
Gpibd1 66
Gpid 66

Characteristics:

Orphanet epidemiological data:

56
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
glycosylphosphatidylinositol deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610293
Orphanet 56 ORPHA83639
ICD10 via Orphanet 34 E88.8
MedGen 40 C1853205

Summaries for Glycosylphosphatidylinositol Deficiency

UniProtKB/Swiss-Prot : 66 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, splenomegaly and hepatomegaly. An important gene associated with Glycosylphosphatidylinositol Deficiency is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Related phenotype is Decreased NF-kappaB reporter expression.

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

Description from OMIM: 610293

Related Diseases for Glycosylphosphatidylinositol Deficiency

Graphical network of the top 20 diseases related to Glycosylphosphatidylinositol Deficiency:



Diseases related to Glycosylphosphatidylinositol Deficiency

Symptoms & Phenotypes for Glycosylphosphatidylinositol Deficiency

Symptoms by clinical synopsis from OMIM:

610293

Clinical features from OMIM:

610293

Human phenotypes related to Glycosylphosphatidylinositol Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 portal hypertension 32 HP:0001409
5 portal vein thrombosis 32 HP:0030242

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 8.92 ALPL PIGM PIGV PIGW

Drugs & Therapeutics for Glycosylphosphatidylinositol Deficiency

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Deficiency

Genetic Tests for Glycosylphosphatidylinositol Deficiency

Genetic tests related to Glycosylphosphatidylinositol Deficiency:

id Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Deficiency 29

Anatomical Context for Glycosylphosphatidylinositol Deficiency

Publications for Glycosylphosphatidylinositol Deficiency

Articles related to Glycosylphosphatidylinositol Deficiency:

id Title Authors Year
1
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. ( 27626616 )
2016
2
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. ( 26293662 )
2015
3
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. ( 26419326 )
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

ClinVar genetic disease variations for Glycosylphosphatidylinositol Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIGM NM_145167.2(PIGM): c.-270C> G single nucleotide variant Pathogenic rs587776528 GRCh37 Chromosome 1, 160001799: 160001799

Expression for Glycosylphosphatidylinositol Deficiency

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Deficiency.

Pathways for Glycosylphosphatidylinositol Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 ALPL PIGM PIGV PIGW
2
Show member pathways
12.88 ALPL PIGM PIGV PIGW
3
Show member pathways
10.92 ALPL PIGM PIGV PIGW
4
Show member pathways
10.74 PIGM PIGV PIGW

GO Terms for Glycosylphosphatidylinositol Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.8 PIGM PIGV PIGW

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

id Name GO ID Score Top Affiliating Genes
1 GPI anchor biosynthetic process GO:0006506 9.13 PIGM PIGV PIGW
2 preassembly of GPI anchor in ER membrane GO:0016254 8.8 PIGM PIGV PIGW

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.62 PIGM PIGV

Sources for Glycosylphosphatidylinositol Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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