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Progressive non-fluent aphasia
1 OMIM reference -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Tyrosinemia type 2
1 OMIM reference -
1 associated gene
21 signs/symptoms
Progressive non-fluent aphasia
Tyrosinemia type 2

C9ORF72
(UniProt - OMIM)
 TAT
(UniProt - OMIM)
CHMP2B
(UniProt - OMIM)
GRN
(UniProt - OMIM)
MAPT
(UniProt - OMIM)
PSEN1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

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


Citations in the biomedical literature:


Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Tyrosinemia type 2
TAT



Progressive non-fluent aphasia
Tyrosinemia type 2

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA
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 genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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: D057178
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


Progressive non-fluent aphasia

(no data available)