Renal-genital-middle ear anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 25 |
| OrphanetNr: | 1092 |
| OMIM Id: |
267400
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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 recessive inheritance [Omim] |
| Age of onset: |
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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 renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000148) | Vaginal atresia | 16 / 7739 | ||||
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(HPO:0006482) | Abnormality of dental morphology | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0003196) | Short nose | Occasional [Orphanet] | 264 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0010285) | Oral synechia | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0000632) | Lacrimation abnormality | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000545) | Myopia | Occasional [Orphanet] | 286 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0004452) | Abnormality of the middle ear ossicles | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Occasional [Orphanet] | 123 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(OMIM) | Abnormal middle ear ossicles | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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