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Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Tyrosinemia type 2
1 OMIM reference -
1 associated gene
21 signs/symptoms
Atypical teratoid tumor
Tyrosinemia type 2

SMARCB1
(UniProt - OMIM)
 TAT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMARCB1
(0.75)
TAT


Citations in the biomedical literature:


Atypical teratoid tumor
SMARCB1
Tyrosinemia type 2
TAT



Atypical teratoid tumor
Tyrosinemia type 2

Synonym(s):
(no synonyms)

Synonym(s):
- Keratosis palmoplantaris - corneal dystrophy
- Oculocutaneous tyrosinemia
- Richner-Hanhart syndrome
- Tyrosinemia due to TAT deficiency
- Tyrosinemia due to tyrosine aminotransferase deficiency
- Tyrosinemia type II
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Ataxia / incoordination / trouble of the equilibrium
- Seizures / epilepsy / absences / spasms / status epilepticus

Atypical teratoid tumor
Tyrosinemia type 2

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

Frequent
- 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
- Autosomal recessive inheritance
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal clouding / opacity / vascularisation
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Hyperhidrosis / increased sweating
- Nystagmus
- Photophobia
- Psychic / behavioural troubles
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Flat cheek bones / malar hypoplasia
- Microcephaly
- Nails anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor
- Visual loss / blindness / amblyopia