Bone marrow failure syndrome 6

Preferred Label : Bone marrow failure syndrome 6;

Symbol : BMFS6;

CISMeF acronym : BMFS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MDM4 regulator of p53 gene (MDM4, 602704.0001);

Neoplasia : Cancer, variable types;

Laboratory abnormalities : Decreased telomere length (1 to 10% of normal);

Prefixed ID : #618849;

Details

Origin ID

618849;

UMLS CUI

C5394274;

Genes related to phenotype
- Mdm4 regulator of p53 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Chronic fatigue [HPO term]
- Hypothyroidism [HPO term]
- Increased mean corpuscular volume [HPO term]
- Lymphopenia [HPO term]
- Myalgia [HPO term]
- Neutropenia [HPO term]
- Osteopenia [HPO term]
- Persistence of hemoglobin F [HPO term]
- Recurrent sinusitis [HPO term]
- Short telomere length [HPO term]
- Squamous cell carcinoma of the tongue [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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