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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
CLN11 disease
Tyrosinemia type 2

GRN TAT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRN
(0.78)
TAT



Citations in the biomedical literature:


CLN11 disease
GRN
Tyrosinemia type 2
TAT



CLN11 disease
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):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
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

Tyrosinemia type 2

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
- Ataxia / incoordination / trouble of the equilibrium
- Flat cheek bones / malar hypoplasia
- Microcephaly
- Nails anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor
- Visual loss / blindness / amblyopia


CLN11 disease

(no data available)