PLATELET GLYCOPROTEIN IV DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: CD36 DEFICIENCY
BLEEDING DISORDER, PLATELET-TYPE, 10
BDPLT10
Number of Symptoms 12
OrphanetNr:
OMIM Id: 608404
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000818) Abnormality of the endocrine system 26 / 7739
2
(HPO:0001892) Abnormal bleeding 85 / 7739
3
(HPO:0003010) Prolonged bleeding time 88 / 7739
4
(HPO:0001902) Giant platelets 11 / 7739
5
(HPO:0001873) Thrombocytopenia 224 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Low to low-normal platelet count 2 / 7739
8
(OMIM) No neutrophil inclusions 1 / 7739
9
(OMIM) Prolonged bleeding time 15-to->30 minutes 1 / 7739
10
(OMIM) Median platelet volume 15.5fl 1 / 7739
11
(OMIM) Variable bleeding tendencies 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM CD36 deficiency can be divided into 2 subgroups (Yamamoto et al., 1994). The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting CD36 deficiency; indeed, probably no cells express CD36. The type II phenotype lacks the surface ...
Molecular genetics OMIM In platelets from 4 of 5 Japanese patients with type II platelet glycoprotein IV deficiency, Kashiwagi et al. (1993) identified a mutation in the CD36 gene (P90S; 173510.0001). In 2 patients with type I CD36 deficiency, Kashiwagi et ...
Population genetics OMIM CD36 deficiency is present in 2 to 3% of Japanese, Thais, and Africans, but in less than 0.3% of Americans of European descent (Ikeda et al., 1989; Yamamoto et al., 1990; Kashiwagi et al., 1995; Urwijitaroon et al., ...