MCID: GLY032
MIFTS: 36

Glycosylphosphatidylinositol Deficiency

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

Aliases & Classifications for Glycosylphosphatidylinositol Deficiency

MalaCards integrated aliases for Glycosylphosphatidylinositol Deficiency:

Name: Glycosylphosphatidylinositol Deficiency 57 75 29 13 6 73
Glycosylphosphatidylinositol Biosynthesis Defect 1 57 75
Gpibd1 57 75
Gpid 57 75
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 59
Congenital Disorder of Glycosylation Due to Pigm Deficiency 59
Glycosylphosphatidylinositol Biosynthesis Defect 1; Gpibd1 57
Glycosylphosphatidylinositol Deficiency ) 40
Pigm-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated may 2014)
onset of thrombosis by age 2 years


HPO:

32
glycosylphosphatidylinositol deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610293
Orphanet 59 ORPHA83639
ICD10 via Orphanet 34 E88.8
UMLS via Orphanet 74 C1853205
MedGen 42 C1853205
UMLS 73 C1853205

Summaries for Glycosylphosphatidylinositol Deficiency

OMIM : 57 Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), have various important roles. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can cause various symptoms, mainly including intellectual disability, and sometimes other congenital malformations, seizures, or dysmorphic facial features (summary by Makrythanasis et al., 2016). (610293)

MalaCards based summary : Glycosylphosphatidylinositol Deficiency, also known as glycosylphosphatidylinositol biosynthesis defect 1, is related to hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, and has symptoms including absence seizures 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. Affiliated tissues include bone and bone marrow, and related phenotypes are seizures and portal hypertension

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Glycosylphosphatidylinositol... more...

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 via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Cardiovascular Vascular:
portal hypertension
venous thrombosis

Neurologic Central Nervous System:
seizures, absence
seizures, atonic

Abdomen Liver:
hepatomegaly
portal hypertension
portal vein thrombosis
hepatic venous thrombosis

Hematology:
no hemolysis
no bone marrow abnormalities

Laboratory Abnormalities:
decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 ) on hematopoietic cells


Clinical features from OMIM:

610293

Human phenotypes related to Glycosylphosphatidylinositol Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 portal hypertension 32 HP:0001409
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 venous thrombosis 32 HP:0004936
6 portal vein thrombosis 32 HP:0030242

UMLS symptoms related to Glycosylphosphatidylinositol Deficiency:


absence seizures

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

26
# 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:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Deficiency 29 PIGM

Anatomical Context for Glycosylphosphatidylinositol Deficiency

MalaCards organs/tissues related to Glycosylphosphatidylinositol Deficiency:

41
Bone, Bone Marrow

Publications for Glycosylphosphatidylinositol Deficiency

Articles related to Glycosylphosphatidylinositol Deficiency:

# 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
# 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
2 PIGM NM_145167.2(PIGM): c.-270C> G single nucleotide variant Pathogenic rs587776528 GRCh38 Chromosome 1, 160032009: 160032009
3 PIGM NM_145167.2(PIGM): c.819G> A (p.Pro273=) single nucleotide variant Benign rs138151842 GRCh37 Chromosome 1, 160000711: 160000711
4 PIGM NM_145167.2(PIGM): c.819G> A (p.Pro273=) single nucleotide variant Benign rs138151842 GRCh38 Chromosome 1, 160030921: 160030921

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:

# 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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.13 PIGM PIGV PIGW
2 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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