Alport Syndrome, Autosomal Recessive malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:
Orphanet epidemiological data:51
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Ear diseases
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Autosomal recessive alport syndrome is a 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. about 15 percent of alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the col4a3 or col4a4 genes. last updated: 10/24/2011
MalaCards based summary: Alport Syndrome, Autosomal Recessive, also known as autosomal recessive alport syndrome, is related to alport syndrome and membranous nephropathy, and has symptoms including corneal erosion, diffuse glomerular basement membrane lamellation and anterior lenticonus. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4), and among its related pathways are Pathways in cancer and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye, kidney and prostate, and related mouse phenotypes are renal/urinary system and vision/eye.
OMIM:49 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...
UniProtKB/Swiss-Prot:67 Alport syndrome, autosomal recessive: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
HPO human phenotypes related to Alport Syndrome, Autosomal Recessive:(show all 12)
MalaCards organs/tissues related to Alport Syndrome, Autosomal Recessive:33
Eye, Kidney, Prostate, Spinal cord, Breast, Endothelial
UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome, Autosomal Recessive:67 (show all 14)
Clinvar genetic disease variations for Alport Syndrome, Autosomal Recessive:5 (show all 12)
Search GEO for disease gene expression data for Alport Syndrome, Autosomal Recessive.
Pathways related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:(show all 18)
Cellular components related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet