Glycosylphosphatidylinositol Biosynthesis Defect 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 1

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 1:

Name: Glycosylphosphatidylinositol Biosynthesis Defect 1 ⁵⁶ ⁷³

Glycosylphosphatidylinositol Deficiency ⁵⁶ ⁷³ ¹³ ³⁹

Gpibd1 ⁵⁶ ⁷³

Gpid ⁵⁶ ⁷³

Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency ⁵⁸

Congenital Disorder of Glycosylation Due to Pigm Deficiency ⁵⁸

Portal Hypertension with Seizures and/or Macrocephaly ⁵⁶

Glycosylphosphatidylinositol Deficiency; Gpid ⁵⁶

Pigm-Cdg ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset of thrombosis by age 2 years

HPO:

³¹

glycosylphosphatidylinositol biosynthesis defect 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Blood diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

Rare haematological diseases

External Ids:

OMIM ⁵⁶ 610293

ICD10 via Orphanet ³³ E88.8

UMLS via Orphanet ⁷² C1853205

Orphanet ⁵⁸ ORPHA83639

MedGen ⁴¹ C1853205

Sources

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 1

OMIM : ⁵⁶ Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by Makrythanasis et al., 2016; Pode-Shakked et al., 2019). (610293)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 1, also known as glycosylphosphatidylinositol deficiency, is related to hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency. An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 1 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 phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : ⁷³ 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.

Sources

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 1

Diseases in the Glycosylphosphatidylinositol Biosynthesis Defect 1 family:

Glycosylphosphatidylinositol Biosynthesis Defect 11	Glycosylphosphatidylinositol Biosynthesis Defect 15
Glycosylphosphatidylinositol Biosynthesis Defect 16	Glycosylphosphatidylinositol Biosynthesis Defect 17
Glycosylphosphatidylinositol Biosynthesis Defect 18

Diseases related to Glycosylphosphatidylinositol Biosynthesis Defect 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)

#	Related Disease	Score	Top Affiliating Genes
1	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	32.9	PIGW PIGM
2	hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	11.3
3	glucose phosphate isomerase deficiency	11.2
4	hyperphosphatasia with mental retardation syndrome 1	11.1
5	coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome	11.1
6	multiple congenital anomalies-hypotonia-seizures syndrome 2	11.1
7	multiple congenital anomalies-hypotonia-seizures syndrome 1	11.1
8	hyperphosphatasia with mental retardation syndrome 3	11.1
9	hyperphosphatasia with mental retardation syndrome 2	11.1
10	multiple congenital anomalies-hypotonia-seizures syndrome 3	11.1
11	hyperphosphatasia with mental retardation syndrome 4	11.1
12	mental retardation, autosomal recessive 42	11.1
13	glycosylphosphatidylinositol biosynthesis defect 11	11.1
14	hyperphosphatasia with mental retardation syndrome 6	11.1
15	mental retardation, autosomal recessive 53	11.1
16	epileptic encephalopathy, early infantile, 55	11.1
17	glycosylphosphatidylinositol biosynthesis defect 15	11.1
18	glycosylphosphatidylinositol biosynthesis defect 17	11.1
19	glycosylphosphatidylinositol biosynthesis defect 18	11.1
20	epileptic encephalopathy, early infantile, 77	11.1
21	epileptic encephalopathy, early infantile, 80	11.1
22	neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	11.1
23	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	11.1
24	paroxysmal nocturnal hemoglobinuria	10.1
25	hemoglobinuria	10.1
26	congenital disorders of n-linked glycosylation and multiple pathway	10.1
27	hypotonia	10.1
28	hyperphosphatasia-intellectual disability syndrome	10.1
29	thrombophilia due to thrombin defect	9.9
30	ataxia and polyneuropathy, adult-onset	9.9
31	alacrima, achalasia, and mental retardation syndrome	9.9
32	west syndrome	9.9
33	autosomal recessive disease	9.9
34	microcephaly	9.9
35	cataract	9.9
36	pathologic nystagmus	9.9
37	multiple congenital anomalies-hypotonia-seizures syndrome	9.2	PIGW PIGM

Graphical network of the top 20 diseases related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

Sources

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 1

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

³¹ (show all 10)

#	Description	HPO Source Accession
1	splenomegaly ³¹	HP:0001744
2	hepatomegaly ³¹	HP:0002240
3	portal hypertension ³¹	HP:0001409
4	venous thrombosis ³¹	HP:0004936
5	portal vein thrombosis ³¹	HP:0030242
6	atonic seizure ³¹	HP:0010819
7	hepatic vein thrombosis ³¹	HP:0030243
8	seizure ³¹	HP:0001250
9	generalized non-motor (absence) seizure ³¹	HP:0002121
10	reduced granulocyte cd59 level ³¹	HP:0031555

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
portal hypertension
venous thrombosis
dilated superficial facial and abdominal veins (in some patients)

Neurologic Central Nervous System:
cerebellar atrophy (in some patients)
cerebral atrophy (in some patients)
seizures, absence
seizures, atonic
cerebral infarcts (in some patients)

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

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

Hematology:
thrombocytopenia

Head And Neck Head:
macrocephaly (in some patients)

Clinical features from OMIM:

610293

Sources

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 1

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 1

Sources

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 1

Sources

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 1

Sources

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 1

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

(show all 11)

#	Title	Authors	PMID	Year
1	Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. ⁵⁶ ⁶ ⁶¹	Almeida AM...Karadimitris A	16767100	2006
2	Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. ⁶ ⁵⁶	Pode-Shakked B...Anikster Y	31445883	2019
3	Targeted therapy for inherited GPI deficiency. ⁵⁶ ⁶	Almeida AM...Karadimitris A	17442906	2007
4	Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. ⁵⁶	Makrythanasis P...Murakami Y	26996948	2016
5	Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency. ⁶	Costa JR...Karadimitris A	25293775	2014
6	PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. ⁶¹	Peron A...Vignoli A	32198969	2020
7	CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. ⁶¹	Lukacs M...Stottmann RW	32179897	2020
8	Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. ⁶¹	Bellai-Dussault K...Campeau PM	30054924	2019
9	A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. ⁶¹	Hogrebe M...Marquardt T	27626616	2016
10	A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. ⁶¹	Nakagawa T...Iijima K	26419326	2016
11	Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. ⁶¹	Murakami Y...Kinoshita T	22228761	2012

Sources

Genes for Glycosylphosphatidylinositol Biosynthesis Defect 1

Genes/enhancers related to Glycosylphosphatidylinositol Biosynthesis Defect 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PIGM	Phosphatidylinositol Glycan Anchor Biosynthesis Class M	Protein Coding	1250	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸	17442906 31445883 25293775 (more) 16767100
1	PIGM::GH01J160030	TSS distance: +0.3kb Elite enhancer with elite association with PIGM			Curated enhancer-disease association ²³ ( 27569544 )	16767100
2	PIGW	Phosphatidylinositol Glycan Anchor Biosynthesis Class W	Protein Coding	350	Causative germline mutation ⁵⁸

Sources

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 1

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 1:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PIGM	NM_145167.2(PIGM):c.-270C>G	SNV	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_?)del	deletion	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

Sources

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 1

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 1.

Sources

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 1

Pathways related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Post-translational modification- synthesis of GPI-anchored proteins ⁶⁵ Show member pathways Attachment of GPI anchor to uPAR ⁶⁵	10.95	PIGW PIGM
2	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis ³⁶ Show member pathways Synthesis of glycosylphosphatidylinositol (GPI) ⁶⁵	10.24	PIGW PIGM

Sources

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 1

Cellular components related to Glycosylphosphatidylinositol Biosynthesis Defect 1 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 Glycosylphosphatidylinositol Biosynthesis Defect 1 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

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Glycosylphosphatidylinositol Biosynthesis Defect 1 (GPIBD1)

Aliases & Classifications for Glycosylphosphatidylinositol Biosynthesis Defect 1

MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Glycosylphosphatidylinositol Biosynthesis Defect 1

Related Diseases for Glycosylphosphatidylinositol Biosynthesis Defect 1

Diseases in the Glycosylphosphatidylinositol Biosynthesis Defect 1 family:

Diseases related to Glycosylphosphatidylinositol Biosynthesis Defect 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

Symptoms & Phenotypes for Glycosylphosphatidylinositol Biosynthesis Defect 1

Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Glycosylphosphatidylinositol Biosynthesis Defect 1

Genetic Tests for Glycosylphosphatidylinositol Biosynthesis Defect 1

Anatomical Context for Glycosylphosphatidylinositol Biosynthesis Defect 1

Publications for Glycosylphosphatidylinositol Biosynthesis Defect 1

Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 1:

Genes for Glycosylphosphatidylinositol Biosynthesis Defect 1

Genes/enhancers related to Glycosylphosphatidylinositol Biosynthesis Defect 1 (2 elite genes):

Variations for Glycosylphosphatidylinositol Biosynthesis Defect 1

ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 1:

Expression for Glycosylphosphatidylinositol Biosynthesis Defect 1

Pathways for Glycosylphosphatidylinositol Biosynthesis Defect 1

Pathways related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:

GO Terms for Glycosylphosphatidylinositol Biosynthesis Defect 1

Cellular components related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:

Biological processes related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:

Sources for Glycosylphosphatidylinositol Biosynthesis Defect 1