Complete androgen insensitivity syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CAIS Complete androgen resistance syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 99429 |
| OMIM Id: |
300068
300274 |
| ICD-10: |
E34.5 |
| 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: |
X-linked recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Androgen insensitivity syndrome
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease -Rare urogenital disease |
Symptom Information:
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(HPO:0010788) | Testicular neoplasm | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0008730) | Female external genitalia in individual with 46,XY karyotype | 3 / 7739 | ||||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000037) | Male pseudohermaphroditism | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000786) | Primary amenorrhea | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0003474) | Sensory impairment | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0001337) | Tremor | Occasional [Orphanet] | 200 / 7739 | |||
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(HPO:0000771) | Gynecomastia | Occasional [Orphanet] | 53 / 7739 | |||
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(HPO:0008232) | Elevated follicle stimulating hormone | 8 / 7739 | ||||
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(HPO:0011969) | Elevated luteinizing hormone | 6 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
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(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0002215) | Sparse axillary hair | 21 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0002550) | Absent facial hair | 3 / 7739 | ||||
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(HPO:0002664) | Neoplasm | 111 / 7739 | ||||
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(HPO:0003394) | Muscle cramps | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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