MCID: HYP642
MIFTS: 21

Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency

Categories: Rare diseases

Aliases & Classifications for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

MalaCards integrated aliases for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency:

Name: Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 52 29 6
Glycosylphosphatidylinositol Deficiency 52 71
Congenital Disorder of Glycosylation Due to Pigm Deficiency 52
Gpi Deficiency 52
Pigm-Cdg 52

Classifications:



External Ids:

UMLS 71 C1853205

Summaries for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83639 Definition A syndrome with combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive . It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency, also known as glycosylphosphatidylinositol deficiency, is related to glycosylphosphatidylinositol biosynthesis defect 1 and glucose phosphate isomerase deficiency, and has symptoms including absence seizures An important gene associated with Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

Related Diseases for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 glycosylphosphatidylinositol biosynthesis defect 1 31.5 PIGW PIGM
2 glucose phosphate isomerase deficiency 11.2
3 hemolytic anemia 10.4
4 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.2
5 epilepsy 10.1
6 congenital nonspherocytic hemolytic anemia 10.1
7 paroxysmal nocturnal hemoglobinuria 10.1
8 hemoglobinuria 10.1
9 congenital disorders of n-linked glycosylation and multiple pathway 10.1
10 hypotonia 10.1
11 hyperphosphatasia-intellectual disability syndrome 10.1
12 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
13 myelodysplastic syndrome 10.0
14 deficiency anemia 10.0
15 thrombophilia due to thrombin defect 9.9
16 hyperphosphatasia with mental retardation syndrome 1 9.9
17 ataxia and polyneuropathy, adult-onset 9.9
18 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.9
19 alacrima, achalasia, and mental retardation syndrome 9.9
20 glycosylphosphatidylinositol biosynthesis defect 11 9.9
21 hyperphosphatasia with mental retardation syndrome 6 9.9
22 west syndrome 9.9
23 autosomal recessive disease 9.9
24 microcephaly 9.9
25 cataract 9.9
26 pathologic nystagmus 9.9
27 autism 9.9
28 aplastic anemia 9.9
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
30 glycosylphosphatidylinositol biosynthesis defect 17 9.9
31 neonatal anemia 9.9
32 chagas disease 9.9
33 myeloproliferative neoplasm 9.9
34 bilirubin metabolic disorder 9.9
35 myopathy 9.9
36 congenital hemolytic anemia 9.9
37 splenomegaly 9.9
38 encephalopathy 9.9
39 febrile seizures 9.9
40 multiple congenital anomalies-hypotonia-seizures syndrome 9.2 PIGW PIGM

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



Diseases related to Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency

Symptoms & Phenotypes for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

UMLS symptoms related to Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency:


absence seizures

Drugs & Therapeutics for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Search Clinical Trials , NIH Clinical Center for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency

Genetic Tests for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Genetic tests related to Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency:

# Genetic test Affiliating Genes
1 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 29

Anatomical Context for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Publications for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Articles related to Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency:

# Title Authors PMID Year
1
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. 61
32198969 2020
2
CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. 61
32179897 2020
3
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. 61
30054924 2019
4
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. 61
27626616 2016
5
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 61
26419326 2016
6
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 61
22228761 2012
7
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 61
16767100 2006

Variations for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

ClinVar genetic disease variations for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGM NM_145167.2(PIGM):c.-270C>GSNV Pathogenic 1288 rs587776528 1:160001799-160001799 1:160032009-160032009
2 PIGW NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp)SNV Uncertain significance 634642 rs12952744 17:34893558-34893558 17:36537709-36537709
3 PIGM NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr)SNV Uncertain significance 640196 1:160000580-160000580 1:160030790-160030790
4 PIGM NM_145167.3(PIGM):c.238C>G (p.Leu80Val)SNV Uncertain significance 665365 1:160001292-160001292 1:160031502-160031502
5 PIGM NC_000001.11:g.(?_160030448)_(160032009_?)deldeletion Uncertain significance 641554 1:160000238-160001799 1:160030448-160032009
6 PIGM NM_145167.3(PIGM):c.582G>T (p.Leu194=)SNV Benign 775618 1:160000948-160000948 1:160031158-160031158
7 PIGM NM_145167.3(PIGM):c.819G>A (p.Pro273=)SNV Benign 193498 rs138151842 1:160000711-160000711 1:160030921-160030921
8 PIGM NM_145167.3(PIGM):c.6C>T (p.Gly2=)SNV Benign 592292 rs61757715 1:160001524-160001524 1:160031734-160031734

Expression for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Search GEO for disease gene expression data for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency.

Pathways for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

Pathways related to Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.95 PIGW PIGM
2
Show member pathways
10.24 PIGW PIGM

GO Terms for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.62 PIGW PIGM

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

# Name GO ID Score Top Affiliating Genes
1 GPI anchor biosynthetic process GO:0006506 8.96 PIGW PIGM
2 preassembly of GPI anchor in ER membrane GO:0016254 8.62 PIGW PIGM

Sources for Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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