THROMBOCYTOPENIA 4

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
THC4
Number of Symptoms 2
OrphanetNr:
OMIM Id: 612004
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001873) Thrombocytopenia 224 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Morison et al. (2008) described a 6-generation pedigree segregating autosomal dominant thrombocytopenia. Affected individuals had platelet counts ranging from 73 to 167 with a reference interval of 150 to 430. Clinical manifestations of thrombocytopenia were absent or mild. ...
Molecular genetics OMIM Morison et al. (2008) identified a G-to-A transition at nucleotide 132 in exon 2 of the gene encoding cytochrome c (CYCS; 123970.0001) that caused a substitution of glycine by serine at codon 41 (G41S). Cytochrome c is a ...