ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Tyrosinemia type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.63)	TAT

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		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 bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal 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: (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

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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)