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Partial androgen insensitivity syndrome
1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
Partial androgen insensitivity syndrome
Li-Fraumeni syndrome

AR
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AR
(0.63)
TP53


Citations in the biomedical literature:


Partial androgen insensitivity syndrome
AR
Li-Fraumeni syndrome
CHEK2 TP53



Partial androgen insensitivity syndrome
Li-Fraumeni syndrome

Synonym(s):
- PAIS
- Partial androgen resistance syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D016864
Partial androgen insensitivity syndrome
Li-Fraumeni syndrome

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


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer