Lowe-Kohn-Cohen syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Deafness - nephritis - ano-rectal malformation |
| Number of Symptoms | 4 |
| OrphanetNr: | 2408 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| 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 dominant inheritance |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic anorectal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002023) | Anal atresia | Very frequent [Orphanet] | 135 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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