GPID
MCID: GLY032
MIFTS: 37

Glycosylphosphatidylinositol Deficiency (GPID)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal 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, bone marrow and heart, and related phenotypes are seizures and splenomegaly

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 (�pronunciation�(help·info)), or glycophosphatidylinositol, or GPI in... more...

Related Diseases for Glycosylphosphatidylinositol Deficiency

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 12.3
2 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.1
3 glucose phosphate isomerase deficiency 11.1
4 hyperphosphatasia with mental retardation syndrome 1 10.9
5 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 10.9
6 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.9
7 multiple congenital anomalies-hypotonia-seizures syndrome 1 10.9
8 hyperphosphatasia with mental retardation syndrome 3 10.9
9 hyperphosphatasia with mental retardation syndrome 2 10.9
10 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.9
11 hyperphosphatasia with mental retardation syndrome 4 10.9
12 mental retardation, autosomal recessive 42 10.9
13 glycosylphosphatidylinositol biosynthesis defect 11 10.9
14 hyperphosphatasia with mental retardation syndrome 6 10.9
15 mental retardation, autosomal recessive 53 10.9
16 glycosylphosphatidylinositol biosynthesis defect 15 10.9
17 glycosylphosphatidylinositol biosynthesis defect 17 10.9
18 glycosylphosphatidylinositol biosynthesis defect 18 10.9
19 paroxysmal nocturnal hemoglobinuria 9.9
20 hemoglobinuria 9.9
21 hyperphosphatasia-intellectual disability syndrome 9.8 PIGV PIGW
22 hypophosphatasia, infantile 9.7 ALPL PIGV

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
Abdomen Spleen:
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 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 portal hypertension 32 HP:0001409
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, Heart

Publications for Glycosylphosphatidylinositol Deficiency

Articles related to Glycosylphosphatidylinositol Deficiency:

# Title Authors Year
1
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. ( 30054924 )
2018
2
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. ( 27626616 )
2016
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

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 preassembly of GPI anchor in ER membrane GO:0016254 8.96 PIGV PIGW
2 GPI anchor biosynthetic process GO:0006506 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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