46,XX gonadal dysgenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FSH-RO XX-GD 46,XX ovarian dysgenesis Follicular stimulating hormone-resistant ovaries 46,XX complete gonadal dysgenesis 46,XX pure gonadal dysgenesis XX female gonadal dysgenesis Hypergonadotropic ovarian dysgenesis |
| Number of Symptoms | 16 |
| OrphanetNr: | 243 |
| OMIM Id: |
233300
300510 614324 |
| ICD-10: |
Q99.1 |
| UMLs: |
C0685837 C0949595 |
| MeSH: |
D023961 |
| MedDRA: |
|
| Snomed: |
95198001 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 [Orphanet] |
| Inheritance: |
Autosomal recessive Autosomal dominant X-linked recessive X-linked [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XX disorder of gonadal development
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Gonadal dysgenesis of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease Non-acquired premature ovarian failure -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
|
|
(HPO:0000786) | Primary amenorrhea | Very frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0000137) | Abnormality of the ovary | Very frequent [Orphanet] | 41 / 7739 | |||
|
|
(HPO:0000133) | Gonadal dysgenesis | 21 / 7739 | ||||
|
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(HPO:0000869) | Secondary amenorrhea | Occasional [Orphanet] | 42 / 7739 | |||
|
|
(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
|
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
|
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
|
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(HPO:0000837) | Increased circulating gonadotropin level | 12 / 7739 | ||||
|
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
|
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(HPO:0011302) | Long palm | Occasional [Orphanet] | 70 / 7739 | |||
|
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
|
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
|
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | Occasional [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0002206) | Pulmonary fibrosis | Occasional [Orphanet] | 51 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|