MCID: GLY021
MIFTS: 18

Glycoprotein Ia Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Glycoprotein Ia Deficiency

MalaCards integrated aliases for Glycoprotein Ia Deficiency:

Name: Glycoprotein Ia Deficiency 54 12 13 69
Platelet-Type Bleeding Disorder 9 12 29
Bleeding Diathesis Due to Integrin Alpha2-Beta1 Deficiency 56
Collagen Platelet Receptor Deficiency 12
Glycoprotein 1a Deficiency 24
Gp Ia Deficiency 12
Gp1a Deficiency 24
Bdplt9 12

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
mild disorder
three families have been reported (as of september 2011)


HPO:

32
glycoprotein ia deficiency:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 614200
Disease Ontology 12 DOID:0111045
ICD10 33 D69.8
Orphanet 56 ORPHA98886
UMLS via Orphanet 70 C3280114
ICD10 via Orphanet 34 D69.8

Summaries for Glycoprotein Ia Deficiency

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.

MalaCards based summary : Glycoprotein Ia Deficiency, is also known as platelet-type bleeding disorder 9, and has symptoms including thrombocytopenia and bruising susceptibility. An important gene associated with Glycoprotein Ia Deficiency is ITGA2 (Integrin Subunit Alpha 2).

Description from OMIM: 614200

Related Diseases for Glycoprotein Ia Deficiency

Symptoms & Phenotypes for Glycoprotein Ia Deficiency

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
easy bruising

Hematology:
thrombocytopenia, mild
mild alpha-granule deficiency
platelets show decreased gpia/gpiia surface complex
platelets show defective adhesion to collagen and subendothelium


Clinical features from OMIM:

614200

Human phenotypes related to Glycoprotein Ia Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 bruising susceptibility 32 HP:0000978

Drugs & Therapeutics for Glycoprotein Ia Deficiency

Search Clinical Trials , NIH Clinical Center for Glycoprotein Ia Deficiency

Genetic Tests for Glycoprotein Ia Deficiency

Genetic tests related to Glycoprotein Ia Deficiency:

id Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 9 29
2 Glycoprotein 1a Deficiency 24 ITGA2

Anatomical Context for Glycoprotein Ia Deficiency

Publications for Glycoprotein Ia Deficiency

Variations for Glycoprotein Ia Deficiency

Expression for Glycoprotein Ia Deficiency

Search GEO for disease gene expression data for Glycoprotein Ia Deficiency.

Pathways for Glycoprotein Ia Deficiency

GO Terms for Glycoprotein Ia Deficiency

Sources for Glycoprotein Ia 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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