Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4

Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4;

Symbol : PFBMFT4;

CISMeF acronym : PFBMFT4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polyadenylate-specific ribonuclease gene (PARN, 604212.0006);

Laboratory abnormalities : Decreased telomere length in lymphocytes;

Prefixed ID : #616371;

Details

Origin ID

616371;

UMLS CUI

C4225347;

Automatic exact mappings (from CISMeF team)
- PARN wt Allele [NCIt concept]
Genes related to phenotype
- Polyadenylate-specific ribonuclease [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cough [HPO term]
- Decreased DLCO [HPO term]
- Honeycomb lung [HPO term]
- Incomplete penetrance [HPO term]
- Premature graying of hair [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]
ORDO concept(s)
- Idiopathic pulmonary fibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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