46,XY gonadal dysgenesis - motor and sensory neuropathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 168563 |
| OMIM Id: |
607080
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| ICD-10: |
Q56.1 |
| 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: | 6 cases [Orphanet] |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with 46,XY disorder of sex development
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000133) | Gonadal dysgenesis | 11017805 | IBIS | 21 / 7739 | ||
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(HPO:0008668) | Gonadal dysgenesis, male | 3 / 7739 | ||||
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(HPO:0001271) | Polyneuropathy | 11017805 | IBIS | 56 / 7739 | ||
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(HPO:0003380) | Decreased number of peripheral myelinated nerve fibers | 11017805 | IBIS | 30 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Umehara et al. (1999) described a patient with 46,XY partial gonadal dysgenesis associated with polyneuropathy. The diagnosis was made on the basis of female external genitalia with a blind vagina and immature uterus, presence of a testis on ... |
| Molecular genetics OMIM |
The combination of manifestations reported by Umehara et al. (1999) suggested that a mutation in a gene that is involved in both male gonadal differentiation and perineurial development might be responsible for this syndrome. Umehara et al. (2000) ... |