Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2

Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2;

Symbol : PFBMFT2;

CISMeF acronym : PFBMFT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the telomerase RNA component gene (TERC, 602322.0004);

Neoplasia : Increased risk for cancer; Increased risk for myelodysplastic syndrome; Increased risk for hematologic cancer, particularly acute myeloid leukemia;

Laboratory abnormalities : Decreased telomere length in lymphocytes;

Prefixed ID : #614743;

Details

Origin ID

614743;

UMLS CUI

C3553622;

Currated CISMeF NLP mapping
- TERC Deficiency [NCIt concept]
Genes related to phenotype
- Telomerase rna component [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Aplastic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cirrhosis [HPO term]
- Incomplete penetrance [HPO term]
- Leukemia [HPO term]
- Myeloid leukemia [HPO term]
- Pancytopenia [HPO term]
- Premature graying of hair [HPO term]
- Pulmonary fibrosis [HPO term]
ORDO concept(s)
- Idiopathic aplastic anemia [ORDO Disease]
See also inter- (CISMeF)
- TERC wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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