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Angelman syndrome
1 OMIM reference -
5 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
Angelman syndrome
Primary peritoneal carcinoma

ATP10A
(UniProt - OMIM)
 BRCA1
(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
(0.75)
BRCA1


Citations in the biomedical literature:


Angelman syndrome
ATP10A CYFIP1 OCA2 SNRPN UBE3A
Primary peritoneal carcinoma
BRCA1



Angelman syndrome
Primary peritoneal carcinoma

Synonym(s):
(no synonyms)

Synonym(s):
- EOPPC
- Extra-ovarian primary peritoneal carcinoma
- PPC
- Primary peritoneal serous carcinoma
- Serous surface papillary carcinoma
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
1 OMIM reference -
1 MeSH reference: D017204
External references:
No OMIM references
No MeSH references
Angelman syndrome
Primary peritoneal carcinoma

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
- Inguinal / inguinoscrotal / crural hernia
- Strabismus / squint


Very frequent
- Acute abdominal pain / colic
- Anomalies of the abdominal wall
- Constipation
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Peritoneal diseases
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Early death / lethality