Details of Disease

General Information of Disease (ID: DISFOQZB)

• Disease Name: Autosomal recessive Alport syndrome
• Synonyms: Alport syndrome recessive type; nephropathy and deafness; Alport syndrome autosomal recessive; Alport syndrome, autosomal recessive; Alport syndrome 2, autosomal recessive
• Definition: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DIS25AB4: Alport syndrome
  DISFOQZB: Autosomal recessive Alport syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008762
  UMLS CUI: C4746745
  OMIM ID: 203780
  MedGen ID: 1648334
  Orphanet ID: 88919

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPV17	OT579DMU	Limited	Biomarker	[1]
COL4A3	OT6SB8X5	Definitive	Autosomal recessive	[2]
COL4A4	OT9G0MCT	Definitive	Autosomal recessive	[2]

References

• [1] Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.