SPERMATOGENIC FAILURE 8
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPGF8 |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
613957
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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 inheritance [Omim] |
| 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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(OMIM) | Severe oligospermia | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Sperm counts less than 1 x 10(6) per mL (in most patients) | 1 / 7739 | ||||
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(OMIM) | Moderate oligospermia (rare) | 1 / 7739 | ||||
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(OMIM) | Cryptozoospermia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Bashamboo et al. (2010) analyzed the candidate gene NR5A1 in 315 men with idiopathic spermatogenic failure and identified heterozygous missense mutations in 7 of them (see, e.g., 184757.0016-184757.0018). The authors noted that except for 1 mutation-positive patient who ... |