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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
No signs/symptoms info
Timothy syndrome
Progressive non-fluent aphasia

CACNA1C C9ORF72
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1C
(0.63)
VCP



Citations in the biomedical literature:


Timothy syndrome
CACNA1C
Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Timothy syndrome
Progressive non-fluent aphasia

Synonym(s):
- LQT8
- Long QT syndrome - syndactyly
- Long QT syndrome type 8

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
1 MeSH reference: C536962
External references:
1 OMIM reference -
1 MeSH reference: D057178

No signs/symptoms info available.