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Trichothiodystrophy
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Complete androgen insensitivity syndrome
2 OMIM references -
1 associated gene
14 signs/symptoms
Trichothiodystrophy
Complete androgen insensitivity syndrome

ERCC2
(UniProt - OMIM)
 AR
(UniProt - OMIM)
ERCC3
(UniProt - OMIM)
GTF2H5
(UniProt - OMIM)
MPLKIP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ERCC3
ERCC2
(0.75)
(0.56)
AR
AR


Citations in the biomedical literature:


Trichothiodystrophy
ERCC2 ERCC3 GTF2H5 MPLKIP
Complete androgen insensitivity syndrome
AR



Trichothiodystrophy
Complete androgen insensitivity syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CAIS
- Complete androgen resistance syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
No OMIM references
2 MeSH references: C536559 / D054463
External references:
2 OMIM references -
No MeSH references
Complete androgen insensitivity syndrome

Very frequent
- Decreased body hair / axillar / pubic hairlessness
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Sensitive trouble / deficit
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Tremor


Trichothiodystrophy

(no data available)