Amegakaryocytic thrombocytopenia, congenital

Preferred Label : Amegakaryocytic thrombocytopenia, congenital;

Symbol : CAMT;

CISMeF acronym : CAMT;

Type : Phenotype, molecular basis known;

Description : Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MPL proto-oncogene (thrombopoietin receptor) gene (MPL, 159530.0001);

Prefixed ID : #604498;

Details

Origin ID

604498;

UMLS CUI

C1327915;

Automatic exact mappings (from CISMeF team)
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]
- Congenital amegakaryocytic thrombocytopenia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital amegakaryocytic thrombocytopenia [MeSH concept]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]
- congenital amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
DO Cross reference
- congenital amegakaryocytic thrombocytopenia [DO Concept]
Genes related to phenotype
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
HPO term(s)
- Amegakaryocytic thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Megakaryocytopenia [HPO term]
- Pancytopenia [HPO term]
- Thrombocytopenia [HPO term]
- severe thrombocytopenia [HPO term]
ORDO concept(s)
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia [MeSH concept]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]

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