has characteristic has characteristic has material basis in germline mutation in COL4A4 Autosomal recessive inheritance autosomal recessive disease autosomal recessive Alport syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome https://www.malacards.org/card/alport_syndrome_2_autosomal_recessive https://www.malacards.org/card/autosomal_recessive_alport_syndrome Orphanet:88919 MedDRA:10001843 GARD:0000625 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. OMIM:203780 Alport syndrome recessive type Alport syndrome, autosomal recessive MEDGEN:1648334 MONDO:0008762 Alport syndrome autosomal recessive Alport syndrome 2, autosomal recessive DOID:0110033 UMLS:C4746745 nephropathy and deafness SCTID:717767009 Alport syndrome