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Hyperinsulinism due to HNF4A deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Hyperinsulinism due to HNF4A deficiency

Complete androgen insensitivity syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNF4A	(0.55)	AR

Citations in the biomedical literature:

Hyperinsulinism due to HNF4A deficiency		Complete androgen insensitivity syndrome
	Synonym(s): - Hyperinsulinemic hypoglycemia due to HNF4A deficiency		Synonym(s): - CAIS - Complete androgen resistance syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic 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): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown 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: No OMIM references No MeSH references		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
Hyperinsulinism due to HNF4A deficiency
(no data available)