ODCs

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Partial androgen insensitivity syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Sotos syndrome

2 OMIM references -
2 associated genes
47 signs/symptoms

Partial androgen insensitivity syndrome

Sotos syndrome

AR	(UniProt - OMIM)		NFIX	(UniProt - OMIM)
			NSD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.89)	NSD1

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		Sotos syndrome
	Synonym(s): - PAIS - Partial androgen resistance syndrome		Synonym(s): - Cerebral gigantism

	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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D058495


COMMON SIGNS	- Hypospadias / epispadias / bent penis

Partial androgen insensitivity syndrome		Sotos syndrome
	Very frequent - Bifid scrotum - 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 - Advanced bone age - Autosomal dominant inheritance - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - Flattened nose - Frontal bossing / prominent forehead - High forehead - High vaulted / narrow palate - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Macrocephaly / macrocrania / megalocephaly / megacephaly - Prognathism / prognathia - Tall stature / gigantism / growth acceleration Frequent - Anteverted nares / nostrils - Conductive deafness / hearing loss - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Dolichocephaly / scaphocephaly - Generalized obesity - Hypoglycemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Precocious puberty - Premature eruption of teeth / natal teeth Occasional - Abnormal fingernails - Cardiac septal defect - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Coarse face - Craniostenosis / craniosynostosis / sutural synostosis - EEG anomalies - Genu valgum - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypereflexia - Micrognathia / retrognathia / micrognathism / retrognathism - Neoplasms / tumors - Patent ductus arteriosus - Polycystic kidneys - Psychic / behavioural troubles - Sacrococcygeal teratoma - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter