RHYNS syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia Retinitis pigmentosa syndrome Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia |
| Number of Symptoms | 11 |
| OrphanetNr: | 140976 |
| OMIM Id: |
602152
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| ICD-10: |
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| UMLs: |
C1865794 |
| MeSH: |
C537612 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000090) | Nephronophthisis | 42 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | 164 / 7739 | ||||
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(HPO:0000824) | Growth hormone deficiency | 56 / 7739 | ||||
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(HPO:0000830) | Anterior hypopituitarism | 9 / 7739 | ||||
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(HPO:0008245) | Pituitary hypothyroidism | 4 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(OMIM) | Liver fibrosis | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Retinitis pigmentosa and nephronophthisis are the diagnostic hallmarks of Loken-Senior syndrome (266900). Two unrelated Italian patients with a syndrome of retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia have been described. Bianchi et al. (1988) described a patient ... |