Details of Disease

General Information of Disease (ID: DISECBR1)

Disease Name Hereditary nephritis
Synonyms nephritis, familial; familial nephritis; hereditary nephritis
Definition
A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.
Disease Hierarchy
DISNCQLA: Inherited kidney disorder
DISQZQ70: Nephritis
DISECBR1: Hereditary nephritis
Disease Identifiers
MONDO ID
MONDO_0005334
MESH ID
D009394
UMLS CUI
C0027706
MedGen ID
10305
SNOMED CT ID
399340005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A3 OT6SB8X5 Strong Biomarker [1]
COL4A5 OTHG60RE Strong Biomarker [2]
MYH9 OT94Z706 Strong Biomarker [3]
COL4A4 OT9G0MCT Definitive Genetic Variation [4]
------------------------------------------------------------------------------------

References

1 Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.
2 A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.PLoS One. 2015 Jul 13;10(7):e0132010. doi: 10.1371/journal.pone.0132010. eCollection 2015.
3 Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063.
4 Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28.