SPERMATOGENIC FAILURE, X-LINKED, 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
MALE INFERTILITY FROM DEFECT IN MEIOSIS SPGFX2 |
Number of Symptoms | 4 |
OrphanetNr: | |
OMIM Id: |
309120
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000027) | Azoospermia | 28 / 7739 | ||||
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(HPO:0003251) | Male infertility | 14 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Desynapsis, lack of chiasmata and degeneration of spermatocytes in meiosis I | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
In 3 males in 2 generations and 3 sibships, related through females, Chaganti and German (1979) observed infertility. Testicular tissue from the propositus showed desynapsis, lack of chiasmata and degeneration of spermatocytes during the first meiotic division. X-linked ... |