Chromosome 5q deletion syndrome

Preferred Label : Chromosome 5q deletion syndrome;

CISMeF acronym : MAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 5q- syndrome; Macrocytic anemia, refractory, due to 5q deletion; MAR;

Included titles and symbols : Megakaryocytes, unilobular nucleated;

Description : The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).;

Inheritance : Somatic mutation; Isolated cases;

Molecular basis : Caused by somatic deletion of 1 allele of the ribosomal protein S14 gene (RPS14, 130620);

Prefixed ID : #153550;

Details

Origin ID

153550;

UMLS CUI

C0740302;

Automatic exact mappings (from CISMeF team)
- Acromegaly (disorder) [SNOMED CT concept]
- Anesthesiologists [MeSH Descriptor]
- Contact with health services for medically assisted reproduction [ICD-11 Category]
- Does dry self (finding) [SNOMED CT concept]
- IRF1 wt Allele [NCIt concept]
- Marathi Language [NCIt concept]
- Married (finding) [SNOMED CT concept]
- Matrix Attachment Region [NCIt concept]
- Mixed antiglobulin reaction test (procedure) [SNOMED CT concept]
- ever married [MeSH concept]
- family conflict [MeSH Descriptor]
- marriage, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- 5q minus syndrome [Disease (Nov.)]
- 5q minus syndrome [MedDRA Preferred Term]
- 5q-syndrome [MedDRA LLT]
- Chromosome 5q Deletion Syndrome [MeSH concept]
- Chromosome 5q Deletion Syndrome [MeSH Supplementary Concept]
- Myelodysplastic Syndrome with del(5q) [NCIt concept]
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [ORDO Disease]
- Myelodysplastic syndrome with 5q deletion (5q) syndrome [ICD-O code]
- Myelodysplastic syndrome with isolated del(5q) (disorder) [SNOMED CT concept]
- chromosome 5q deletion syndrome [DO Concept]
DO Cross reference
- chromosome 5q deletion syndrome [DO Concept]
False automatic mappings
- Morocco [NCIt concept]
Genes related to phenotype
- Ribosomal protein s14 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Contiguous gene syndrome [HPO term]
- Erythroid hypoplasia [HPO term]
- Isolated cases [HPO term]
- Late onset [HPO term]
- Megakaryocyte nucleus hypolobulation [HPO term]
- Myelodysplasia [HPO term]
- Myelodysplastic syndrome [HPO term]
- Refractory macrocytic anemia [HPO term]
- Somatic mutation [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5q minus syndrome [MedDRA Preferred Term]
- 5q-syndrome [MedDRA LLT]
- Chromosome 5q Deletion Syndrome [MeSH Supplementary Concept]
- Chromosome 5q Deletion Syndrome [MeSH concept]
- Partial deletion of the long arm of chromosome 5 [ORDO Disease]

Keyword's position in hierarchy(ies) :

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