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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
5 associated genes
21 signs/symptoms
17p13.3 microduplication syndrome
Angelman syndrome

PAFAH1B1 ATP10A
YWHAE CYFIP1
OCA2
SNRPN
UBE3A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
UBE3A



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Angelman syndrome
ATP10A CYFIP1 OCA2 SNRPN UBE3A



17p13.3 microduplication syndrome
Angelman syndrome

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic

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


COMMON
SIGNS
- Hypotonia
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability


17p13.3 microduplication syndrome
Angelman syndrome

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


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
- Insterstitial / subtelomeric microdeletion / deletion
- 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