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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Partial androgen insensitivity syndrome
X-linked lymphoproliferative disease

AR SH2D1A
XIAP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.72)
SH2D1A



Citations in the biomedical literature:


Partial androgen insensitivity syndrome
AR
X-linked lymphoproliferative disease
SH2D1A XIAP



Partial androgen insensitivity syndrome
X-linked lymphoproliferative disease

Synonym(s):
- PAIS
- Partial androgen resistance syndrome

Synonym(s):
- Duncan disease
- Purtilo syndrome
- XLP

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 genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008232

Partial androgen insensitivity syndrome
X-linked lymphoproliferative disease

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
- T-cell deficiency / cellular immunity deficiency
- X-linked recessive inheritance

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphoma
- Splenomegaly

Occasional
- Anaemia