Nephrosis - deafness - urinary tract - digital malformations
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Braun-Bayer syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 2669 |
| OMIM Id: |
256200
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| ICD-10: |
Q87.8 |
| UMLs: |
C1850552 |
| MeSH: |
C536402 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0003119) | Abnormality of lipid metabolism | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0009650) | Short distal phalanx of the thumb | 3 / 7739 | ||||
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(HPO:0009611) | Bifid distal phalanx of the thumb | 15 / 7739 | ||||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0010103) | Short distal phalanx of hallux | 1 / 7739 | ||||
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(HPO:0010097) | Partial duplication of the distal phalanx of the hallux | 2 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0000790) | Hematuria | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000100) | Nephrotic syndrome | Very frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000072) | Hydroureter | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(OMIM) | Digital malformations | 1 / 7739 | ||||
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(OMIM) | Short bifid distal phalanges of thumbs and big toes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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