ODCs

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Angelman syndrome

1 OMIM reference -
5 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Angelman syndrome

Complete androgen insensitivity syndrome

ATP10A	(UniProt - OMIM)	AR	(UniProt - OMIM)
CYFIP1	(UniProt - OMIM)
OCA2	(UniProt - OMIM)
SNRPN	(UniProt - OMIM)
UBE3A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBE3A	(0.83)	AR

Citations in the biomedical literature:

Angelman syndrome		Complete androgen insensitivity syndrome
	Synonym(s): (no synonyms)		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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic		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: D017204		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Inguinal / inguinoscrotal / crural hernia

Angelman syndrome		Complete androgen insensitivity syndrome
	Very frequent - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Face / facial anomalies - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Prognathism / prognathia - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Depressed premaxillary region / midface - Hypereflexia - Macrostomia / big mouth Occasional - Strabismus / squint		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 - 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