Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3

Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3;

Symbol : PFBMFT3;

CISMeF acronym : PFBMFT3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the regulator of telomere elongation helicase 1 gene (RTEL1, 608833.0014);

Laboratory abnormalities : Decreased telomere length in lymphocytes;

Prefixed ID : #616373;

Details

Origin ID

616373;

UMLS CUI

C4225346;

Automatic exact mappings (from CISMeF team)
- RTEL1 wt Allele [NCIt concept]
Genes related to phenotype
- Regulator of telomere elongation helicase 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased DLCO [HPO term]
- Incomplete penetrance [HPO term]
- Pulmonary fibrosis [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Reduced forced vital capacity [HPO term]
- Short telomere length [HPO term]
- Usual interstitial pneumonia [HPO term]
ORDO concept(s)
- Idiopathic pulmonary fibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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