Familial adrenal hypoplasia with absent pituitary luteinizing hormone
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial adrenal hypoplasia with absent pituitary LH Familial adrenal hypoplasia, miniature type |
| Number of Symptoms | 8 |
| OrphanetNr: | 95700 |
| OMIM Id: |
202150
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| ICD-10: |
E27.1 |
| 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: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic chronic primary adrenal insufficiency
-Rare endocrine disease -Rare genetic disease Hypogonadotropic hypogonadism associated with other endocrinopathies -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Syndrome with 46,XY disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0008244) | Congenital adrenal hypoplasia | 3 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | LH absent | 1 / 7739 | ||||
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(OMIM) | Adrenal hypoplasia, 'miniature adult'type | 1 / 7739 | ||||
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(OMIM) | Leydig cells deficient | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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