Autosomal recessive Alport syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 24 |
| OrphanetNr: | 88919 |
| OMIM Id: |
203780
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| ICD-10: |
Q87.8 |
| UMLs: |
C1567744 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alport syndrome
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare otorhinolaryngologic disease -Rare renal disease |
Symptom Information:
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(HPO:0000790) | Hematuria | 106 / 7739 | ||||
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(HPO:0004722) | Thickening of the glomerular basement membrane | 12 / 7739 | ||||
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(HPO:0000100) | Nephrotic syndrome | 83 / 7739 | ||||
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(HPO:0000123) | Nephritis | 18 / 7739 | ||||
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(HPO:0000093) | Proteinuria | 169 / 7739 | ||||
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(HPO:0003774) | Stage 5 chronic kidney disease | 78 / 7739 | ||||
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(HPO:0200020) | Corneal erosion | 12 / 7739 | ||||
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(HPO:0011501) | Anterior lenticonus | 3 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hematuria, gross and microscopic | 4 / 7739 | ||||
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(MedDRA:10051920) | Glomerulonephropathy | 4 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(OMIM) | Deafness, sensorineural, especially affecting high frequencies | 4 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(OMIM) | Splitting of the glomerular basement membrane | 4 / 7739 | ||||
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(OMIM) | Pigmentary changes ('flecks') in the perimacular region | 2 / 7739 | ||||
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(HPO:0030034) | Diffuse glomerular basement membrane lamellation | 4 / 7739 | ||||
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(OMIM) | Corneal endothelial vesicles | 2 / 7739 | ||||
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(OMIM) | Thinning of the glomerular basement membrane | 5 / 7739 | ||||
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(OMIM) | Diffuse lamellation of the glomerular basement membrane | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description ... |
| Clinical Description OMIM |
Passwell et al. (1981) described a girl, born of first-cousin parents, who presented in the first year of life with failure to thrive and was found to have nephritis and deafness. She showed the characteristic electron microscopic feature ... |
| Molecular genetics OMIM |
In affected members of 4 unrelated families with autosomal recessive Alport syndrome, Mochizuki et al. (1994) identified homozygous mutations in the COL4A3 (120070.0001 and 120070.0004) or the COL4A4 (120131.0001-120131.0002) gene. Lemmink et al. (1994) identified compound ... |