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Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
6q25 microdeletion syndrome
1 OMIM reference -
1 associated gene
30 signs/symptoms
Atypical teratoid tumor
6q25 microdeletion syndrome

SMARCB1
(UniProt - OMIM)
 ARID1B
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMARCB1
(0.82)
ARID1B


Citations in the biomedical literature:


Atypical teratoid tumor
SMARCB1
6q25 microdeletion syndrome
ARID1B



Atypical teratoid tumor
6q25 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Del(6)(q25)
- Monosomy 6q25
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

Atypical teratoid tumor
6q25 microdeletion syndrome

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications


Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Sensorineural deafness / hearing loss

Frequent
- Anomalies of eyes and vision
- Broad nasal root
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Mid-facial hypoplasia / short / small midface
- Plagiocephaly
- Short stature / dwarfism / nanism
- Structural anomalies of the nervous system

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Complete claw hand / camptodactyly of all fingers
- Congenital cardiac anomaly / malformation / cardiopathy
- Dilated cerebral ventricles without hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pes talus
- Structural anomalies of the genital system
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures