X-linked thrombocytopenia with normal platelets

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED
THROMBOCYTOPENIA, X-LINKED
THC1
THC
XLT
Number of Symptoms 14
OrphanetNr: 852
OMIM Id: 313900
ICD-10: D69.4
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: Hereditary thrombocytopenia with normal platelets
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0005261) Joint hemorrhage 17 / 7739
3
(HPO:0000964) Eczema 81 / 7739
4
(HPO:0000967) Petechiae 26 / 7739
5
(HPO:0000978) Bruising susceptibility 123 / 7739
6
(HPO:0003261) Increased IgA level 12 / 7739
7
(HPO:0003212) Increased IgE level 13 / 7739
8
(HPO:0005537) Decreased mean platelet volume 7 / 7739
9
(HPO:0004854) Intermittent thrombocytopenia 3 / 7739
10
(HPO:0001905) Congenital thrombocytopenia 4 / 7739
11
(HPO:0003011) Abnormality of the musculature 47 / 7739
12
(OMIM) Transient eczema 1 / 7739
13
(MedDRA:10018852) Haematoma 6 / 7739
14
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (Villa et al., 1995).

- Genetic Heterogeneity of Hereditary Thrombocytopenia

One autosomal dominant form of thrombocytopenia (THC2; 188000) is caused by ...

Clinical Description OMIM Vestermark and Vestermark (1964) found X-linked 'essential' thrombocytopenia in 2 generations of a family. One affected male became symptom-free spontaneously after puberty and one became symptom-free after splenectomy at the age of 18 years but died later of ...
Molecular genetics OMIM Villa et al. (1995) presented clear evidence that X-linked thrombocytopenia is a disorder allelic to Wiskott-Aldrich syndrome. They found 3 different mutations in the WAS gene in 3 unrelated males with isolated thrombocytopenia and small-sized platelets (300392.0004-300392.0006). None ...