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Anaplastic ependymoma
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Sotos syndrome
2 OMIM references -
2 associated genes
47 signs/symptoms
Anaplastic ependymoma
Sotos syndrome

C11ORF95
(UniProt - OMIM)
 NFIX
(UniProt - OMIM)
RELA
(UniProt - OMIM)
 NSD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RELA
(0.63)
NSD1


Citations in the biomedical literature:


Anaplastic ependymoma
C11ORF95 RELA
Sotos syndrome
NFIX NSD1



Anaplastic ependymoma
Sotos syndrome

Synonym(s):
- High-grade ependymoma
Synonym(s):
- Cerebral gigantism
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D058495
Sotos syndrome

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
- Hypospadias / epispadias / bent penis
- 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


Anaplastic ependymoma

(no data available)