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Neurofibromatosis type 3

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Tyrosinemia type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Neurofibromatosis type 3

Tyrosinemia type 2

LZTR1	(UniProt - OMIM)		TAT	(UniProt - OMIM)
NF2	(UniProt - OMIM)
SMARCB1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Neurofibromatosis type 3		Tyrosinemia type 2
	Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis		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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: 3 OMIM references - 1 MeSH reference: C536641		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
Neurofibromatosis type 3
(no data available)