Hypogonadotropic hypogonadism - retinitis pigmentosa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Chang-Davidson-Carlson syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 2235 |
| OMIM Id: |
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| ICD-10: |
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| 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: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with hypogonadotropic hypogonadism
-Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0040075) | Hypopituitarism | Very frequent [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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