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Angelman syndrome
1 OMIM reference -
5 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Tyrosinemia type 2
1 OMIM reference -
1 associated gene
21 signs/symptoms
Angelman syndrome
Tyrosinemia type 2

ATP10A
(UniProt - OMIM)
 TAT
(UniProt - OMIM)
CYFIP1
(UniProt - OMIM)
OCA2
(UniProt - OMIM)
SNRPN
(UniProt - OMIM)
UBE3A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
UBE3A
(0.63)
TAT


Citations in the biomedical literature:


Angelman syndrome
ATP10A CYFIP1 OCA2 SNRPN UBE3A
Tyrosinemia type 2
TAT



Angelman syndrome
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):
(no data available)
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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
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 -
1 MeSH reference: D017204
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Ataxia / incoordination / trouble of the equilibrium
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Angelman syndrome
Tyrosinemia type 2

Very frequent
- Anomalies of eyes and vision
- Brachycephaly / flat occiput
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Face / facial anomalies
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Prognathism / prognathia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Depressed premaxillary region / midface
- Hypereflexia
- Macrostomia / big mouth

Occasional
- Inguinal / inguinoscrotal / crural hernia
- Strabismus / squint


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
- Palmoplantar hyperkeratosis / keratoderma

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

Occasional
- Flat cheek bones / malar hypoplasia
- Nails anomalies
- Tremor
- Visual loss / blindness / amblyopia