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1 OMIM reference -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Peters anomaly

Complete androgen insensitivity syndrome

CYP1B1	(UniProt - OMIM)		AR	(UniProt - OMIM)
FOXC1	(UniProt - OMIM)
HDAC9	(UniProt - OMIM)
PAX6	(UniProt - OMIM)
PITX2	(UniProt - OMIM)
TGFB2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.87)	AR

Citations in the biomedical literature:

Peters anomaly		Complete androgen insensitivity syndrome
	Synonym(s): - Peters congenital glaucoma		Synonym(s): - CAIS - Complete androgen resistance syndrome

	Classification (Orphanet): (no data available)		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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537884		External references: 2 OMIM references - No MeSH references

Peters anomaly		Complete androgen insensitivity syndrome
	Very frequent - Anomalies of eyes and vision - Autosomal recessive inheritance - Microcornea Frequent - Corneal dystrophy Occasional - Anomalies of teeth and dentition - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dental malocclusion - Hypoplastic mandibula / partial absence of the mandibula - Nystagmus		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