Hypergonadotropic hypogonadism - cataract syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACTS AND TESTICULAR FAILURE Lubinsky syndrome |
| Number of Symptoms | 10 |
| OrphanetNr: | 2410 |
| OMIM Id: |
240950
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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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-hypogonadotropic hypogonadism
-Rare endocrine disease -Rare genetic disease Syndromic cataract -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000135) | Hypogonadism | 89 / 7739 | ||||
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000026) | Male hypogonadism | 20 / 7739 | ||||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0008232) | Elevated follicle stimulating hormone | 8 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Elevated follicle-stimulating hormone (FSH) levels | 1 / 7739 | ||||
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(MedDRA:10043315) | Testicular failure | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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