Monosomy 7 myelodysplasia and leukemia syndrome 1

Preferred Label : Monosomy 7 myelodysplasia and leukemia syndrome 1;

Symbol : M7MLS1;

CISMeF acronym : MLSM7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MLSM7; Monosomy 7 of bone marrow; Chromosome 7q deletion;

Description : Monosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia (MDS) and acute myelogenous leukemia (AML). Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by Shannon et al., 1989).;

Inheritance : ?Autosomal recessive;

Prefixed ID : #252270;

Détails

Origin ID

252270;

UMLS CUI

C1854978;

Currated CISMeF NLP mapping
- Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 [NCIt concept]
- monosomy 7 of bone marrow [MeSH concept]
- monosomy 7 of bone marrow [MeSH Supplementary Concept]
Genes related to phenotype
- Sterile alpha motif domain-containing protein 9-like [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Increased mean corpuscular volume [HPO term]
- Myelodysplasia [HPO term]
- Myelodysplasia and acute myelogenous leukemia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial monosomy 7 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 [NCIt concept]
- monosomy 7 of bone marrow [MeSH Supplementary Concept]
- monosomy 7 of bone marrow [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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