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MCID: ALP004
MIFTS: 68
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Alport Syndrome
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Alport Syndrome:
Characteristics:Orphanet epidemiological data:58
alport syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; GeneReviews:24
Penetrance Penetrance may be decreased in adas; at present, data are insufficient to draw a definitive conclusion.
Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Nephrological diseases Ear diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
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 also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities characteristic of this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene . In the remaining cases, it may be inherited in either an autosomal recessive , or rarely in an autosomal dominant manner. In these cases, the condition is caused by mutations in the COL4A3 or COL4A4 genes. Diagnosis of the condition is based on family history of the condition, clinical signs, and specific testing such as a kidney biopsy . The diagnosis can be confirmed by genetic testing . Treatment may include use of a hearing aid , hemodialysis and peritoneal dialysis to treat those with end-stage renal failure, and kidney transplantation .
MalaCards based summary : Alport Syndrome, also known as hereditary nephritis, is related to alport syndrome 3, autosomal dominant and alport syndrome 1, x-linked. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Ramipril and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Kidney, and related phenotypes are sensorineural hearing impairment and retinopathy Disease Ontology : 12 A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. Genetics Home Reference : 25 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females. KEGG : 36 Alport syndrome is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment. Wikipedia : 74 Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by... more...
GeneReviews:
NBK1207
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Human phenotypes related to Alport Syndrome:58 31 (show all 34)
MGI Mouse Phenotypes related to Alport Syndrome:45 (show all 18)
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Drugs for Alport Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 29)
Interventional clinical trials:(show all 16)
Cochrane evidence based reviews: nephritis, hereditary |
Genetic tests related to Alport Syndrome:
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MalaCards organs/tissues related to Alport Syndrome:40
Kidney,
Eye,
Testes,
Bone,
Skin,
Retina,
Smooth Muscle
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Alport Syndrome:
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Articles related to Alport Syndrome:(show top 50) (show all 1449)
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Genes related to Alport Syndrome (1 elite genes):(show all 27) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Alport Syndrome:6 (show top 50) (show all 242)
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Search
GEO
for disease gene expression data for Alport Syndrome.
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Pathways related to Alport Syndrome according to KEGG:36
Pathways related to Alport Syndrome according to GeneCards Suite gene sharing:(show all 35)
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Cellular components related to Alport Syndrome according to GeneCards Suite gene sharing:(show all 16)
Biological processes related to Alport Syndrome according to GeneCards Suite gene sharing:(show all 22)
Molecular functions related to Alport Syndrome according to GeneCards Suite gene sharing:
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