ODCs

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Angelman syndrome

1 OMIM reference -
5 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Mandibulofacial dysostosis-microcephaly syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Angelman syndrome

Mandibulofacial dysostosis-microcephaly syndrome

ATP10A	(UniProt - OMIM)	EFTUD2	(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)	CYFIP1	(0.63)	EFTUD2

Citations in the biomedical literature:

Angelman syndrome		Mandibulofacial dysostosis-microcephaly syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate - MFDM syndrome - Mandibulofacial dysostosis, Guion-Almeida type

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D017204		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Angelman syndrome		Mandibulofacial dysostosis-microcephaly 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 - Macroglossia / tongue protrusion / proeminent / hypertrophic - Prognathism / prognathia - Psychic / behavioural troubles Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Depressed premaxillary region / midface - Hypereflexia - Macrostomia / big mouth Occasional - Inguinal / inguinoscrotal / crural hernia - Strabismus / squint		Very frequent - Antihelix anomaly - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Preauricular / branchial tags / appendages - Prominent / bat ears - Short stature / dwarfism / nanism - Short / small nose - Tragus abnormal / absent - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Autosomal recessive inheritance - Epicanthic folds - External auditory canal atresia / stenosis / agenesis - Folded helix - Limited opening of the mouth - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - Telecanthus / canthal dystopy - Thick / wide ear lobe Occasional - Atrial septal defect / interauricular communication - Sensorineural deafness / hearing loss