Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
Partial androgen insensitivity syndrome |
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INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
PLCG2
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Citations in the biomedical literature:
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
Partial androgen insensitivity syndrome |
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Synonym(s): - aPLAID
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Synonym(s): - PAIS - Partial androgen resistance syndrome
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Classification (Orphanet): - Rare systemic or rheumatologic disease
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Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease
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Classification (ICD10): (no data available)
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Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
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Epidemiological data: Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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Epidemiological data: Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
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External references: 1 OMIM reference -
No MeSH references | |
External references: 1 OMIM reference - No MeSH references
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Partial androgen insensitivity syndrome |
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Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies
Frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
Occasional - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
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Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
(no data available)
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