Thrombocytopenia 1

Preferred Label : Thrombocytopenia 1;

Symbol : THC1;

CISMeF acronym : THC; THC1; XLT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, X-linked; Thrombocytopenia, X-linked, 1; THC; XLT;

Included titles and symbols : Thrombocytopenia, X-linked, intermittent;

Description : 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 mutation in the ANKRD26 (610855) gene and possibly the MASTL gene (608221), both located on chromosome 10. Another autosomal dominant form (THC4; 612004) is caused by mutation in the cytochrome c gene (CYCS; 123970) on chromosome 7. A possible autosomal recessive form also exists (THC3; 273900).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the WAS gene (WAS, 300392.0004);

Prefixed ID : #313900;

Details

Origin ID

313900;

UMLS CUI

C1839163;

Automatic exact mappings (from CISMeF team)
- Dronabinol [NCIt concept]
- Tetrahydrocannabinol Measurement [NCIt concept]
- WAS wt Allele [NCIt concept]
- X-linked thrombocytopenia with normal platelets [ORDO Disease]
- dronabinol [MeSH Descriptor]
- dronabinol [MeSH concept]
- tetrahydrocannabinol [Substance BNPC]
- thrombocytopenia, X-Linked, intermittent [MeSH concept]
- thrombocytopenia, X-Linked, intermittent [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Thrombocytopenia 1 [NCIt concept]
- thrombocytopenia 1 [MeSH concept]
- thrombocytopenia 1 [MeSH Supplementary Concept]
DO Cross reference
- thrombocytopenia [DO Concept]
False automatic mappings
- Tetrahydrocannabinol [ICD-11 Extension code]
Genes related to phenotype
- Wasp actin nucleation promoting factor [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Bruising susceptibility [HPO term]
- Congenital thrombocytopenia [HPO term]
- Decreased mean platelet volume [HPO term]
- Eczema [HPO term]
- Epistaxis [HPO term]
- Hemarthroses [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgE level [HPO term]
- Intermittent thrombocytopenia [HPO term]
- Joint hemorrhage [HPO term]
- Petechiae [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Hereditary thrombocytopenia with normal platelets [ORDO Disease]
- X-linked thrombocytopenia with normal platelets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia 1 [NCIt concept]
- thrombocytopenia 1 [MeSH Supplementary Concept]
- thrombocytopenia 1 [MeSH concept]

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