HEMATURIA, BENIGN FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs: THIN MEMBRANE NEPHROPATHY
THIN-BASEMENT-MEMBRANE NEPHROPATHY
TMN
BFH
Number of Symptoms 5
OrphanetNr:
OMIM Id: 141200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002907) Microscopic hematuria 27 / 7739
2
(HPO:0000790) Hematuria 106 / 7739
3
(HPO:0012577) Thin glomerular basement membrane 2 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0003680) Nonprogressive disorder 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM McConville et al. (1966) described dominant inheritance of benign familial hematuria. A chemical test for hematuria, paper strips impregnated at one end with orthotoluidine which in the presence of hemoglobin is oxidized to yield a blue color, was ...
Molecular genetics OMIM In affected members of a large family segregating BFH, Lemmink et al. (1996) identified a heterozygous mutation in the COL4A4 gene (G897E; 120131.0003).

In affected members of 6 (60%) of 10 unrelated Spanish families with benign ...