Bone marrow failure syndrome 3

Preferred Label : Bone marrow failure syndrome 3;

Symbol : BMFS3;

CISMeF acronym : BMFS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 21 gene (DNAJC21, 617048.0001);

Neoplasia : Acute myeloid leukemia (1 patient);

Laboratory abnormalities : Decreased serum pancreatic enzymes (in some patients); Shortened telomeres (in some patients);

Prefixed ID : #617052;

Details

Origin ID

617052;

UMLS CUI

C4310744;

Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily C, member 21 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Acute myeloid leukemia [HPO term]
- Amelogenesis imperfecta [HPO term]
- Aplasia/Hypoplasia of the eyebrow [HPO term]
- Aplastic anemia [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eczema [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hernia [HPO term]
- Hyperactivity [HPO term]
- Hyperkeratosis [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Metaphyseal dysplasia [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Nail dystrophy [HPO term]
- Pancytopenia [HPO term]
- Phenotypic variability [HPO term]
- Recurrent infections [HPO term]
- Reduced bone mineral density [HPO term]
- Retinal dystrophy [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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