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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
22 OMIM references -
22 associated genes
7 signs/symptoms
Timothy syndrome
Cone rod dystrophy

CACNA1C ABCA4
ADAM9
AIPL1
C8ORF37
CACNA1F
CACNA2D4
CDHR1
CRX
GUCA1A
GUCY2D
OPN1LW
OPN1MW
PITPNM3
PROM1
PRPH2
RAB28
RAX2
RIMS1
RPGR
RPGRIP1
SEMA4A
UNC119


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1C
(0.59)
RIMS1



Citations in the biomedical literature:


Timothy syndrome
CACNA1C
Cone rod dystrophy
ABCA4 ADAM9 AIPL1 C8ORF37 CACNA1F CACNA2D4
CDHR1 CRX GUCA1A GUCY2D OPN1LW OPN1MW
PITPNM3 PROM1 PRPH2 RAB28 RAX2 RIMS1
RPGR RPGRIP1 SEMA4A UNC119



Timothy syndrome
Cone rod dystrophy

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

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536962
External references:
22 OMIM references -
No MeSH references

Cone rod dystrophy

Very frequent
- Night blindness / hemeralopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Autosomal dominant inheritance
- Autosomal recessive inheritance

Occasional
- Mild visual loss / impaired visual acuity


Timothy syndrome

(no data available)