THROMBOCYTHEMIA, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOSIS, X-LINKED
THCYTX
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300331
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001744) Splenomegaly 337 / 7739
2
(HPO:0002240) Hepatomegaly 467 / 7739
3
(HPO:0001894) Thrombocytosis 16 / 7739
4
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stuhrmann et al. (2001) reported a Bedouin Arab family consisting of 4 brothers, aged 4 to 8 years, who had either sustained markedly elevated (greater than 1,000 x 10(9) per liter) or moderately elevated (greater than 500 x ...