Reynolds syndrome

Preferred Label : Reynolds syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin B receptor gene (LBR, 600024.0007);

Laboratory abnormalities : Increased serum alkaline phosphatase; Hyperbilirubinemia; Increased serum cholesterol; Abnormal liver function tests; Serum mitochondrial autoantibodies;

Prefixed ID : #613471;

Details

Origin ID

613471;

UMLS CUI

C0748397;

Automatic exact mappings (from CISMeF team)
- Reynolds syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) [SNOMED CT concept]
- Reynold's syndrome [MedDRA Preferred Term]
- Reynolds syndrome [PASCAL descriptor]
- Reynolds syndrome [ORDO Disease]
Genes related to phenotype
- Lamin b receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Biliary cirrhosis [HPO term]
- Calcinosis [HPO term]
- Calcinosis cutis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Jaundice [HPO term]
- Lip telangiectasia [HPO term]
- Palmar telangiectasia [HPO term]
- Pruritus [HPO term]
- Raynaud phenomenon [HPO term]
- Sclerodactyly [HPO term]
- Scleroderma [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Reynolds syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) [SNOMED CT concept]
- Reynold's syndrome [MedDRA Preferred Term]
- Reynolds syndrome [ORDO Disease]
- Reynolds syndrome [PASCAL descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients