THROMBOCYTOPENIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 3
THC3
Number of Symptoms 7
OrphanetNr:
OMIM Id: 273900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000924) Abnormality of the skeletal system 114 / 7739
2
(HPO:0001892) Abnormal bleeding 85 / 7739
3
(HPO:0001873) Thrombocytopenia 224 / 7739
4
(OMIM) No platelet-stimulating factor 1 / 7739
5
(OMIM) No antiplatelet antibody 1 / 7739
6
(OMIM) No skeletal anomaly 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schaar (1963) described 4 brothers with idiopathic thrombocytopenic purpura that appeared in early infancy and was symptomatic. Three of the boys were well 14 years, 6 years, and 3 years following spenectomy. The other brother died of pneumococcal ...