ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Partial androgen insensitivity syndrome

Pitt-Hopkins syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.88)	TCF4

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		Pitt-Hopkins 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 genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537403


COMMON SIGNS	- Micropenis / small penis / agenesis

Partial androgen insensitivity syndrome		Pitt-Hopkins syndrome
	Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - 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 - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anteverted nares / nostrils - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Constipation - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Helix thickened / sculpted - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrostomia / big mouth - Microcephaly - Palate anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thick lips Frequent - Apnea / sleep apnea - Myopia - Respiratory rhythm disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Tapered fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Irregular / patchy skin hypopigmentation