Hematuria, benign familial, 1

Preferred Label : Hematuria, benign familial, 1;

Symbol : BFH1;

CISMeF acronym : BFH; TMN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thin-basement-membrane nephropathy; TMN; Thin membrane nephropathy; Hematuria, benign familial; BFH;

Description : Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A4, 120131.0003); Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A3, 120070.0007);

Prefixed ID : #141200;

Details

Origin ID

141200;

UMLS CUI

C0241908;

Automatic exact mappings (from CISMeF team)
- Digital breast tomosynthesis [LOINC method]
- Thin basement membrane disease (disorder) [SNOMED CT concept]
- Thin-Basement-Membrane nephropathy [MeSH concept]
Currated CISMeF NLP mapping
- Benign familial haematuria [ICD-11 More detail]
- Benign familial haematuria [MedDRA Preferred Term]
- Benign familial hematuria [ORDO Disease]
- Benign familial hematuria [MedDRA LLT]
- Benign familial hematuria (disorder) [Inactive SNOMED CT concept]
- benign familial hematuria [DO Concept]
- hematuria, benign familial [MeSH concept]
- hematuria, benign familial [MeSH Supplementary Concept]
DO Cross reference
- benign familial hematuria [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hematuria [HPO term]
- Nonprogressive [HPO term]
- Thin glomerular basement membrane [HPO term]
ORDO concept(s)
- Benign familial hematuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign familial haematuria [MedDRA Preferred Term]
- Benign familial hematuria [MedDRA LLT]
- Benign familial hematuria [ORDO Disease]
- Benign familial hematuria (disorder) [Inactive SNOMED CT concept]
- Thin basement membrane disease (disorder) [SNOMED CT concept]
- hematuria, benign familial [MeSH Supplementary Concept]
- hematuria, benign familial [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients