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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
18 OMIM references -
18 associated genes
16 signs/symptoms
Alternating hemiplegia of childhood
Leber congenital amaurosis

ATP1A2 AIPL1
ATP1A3 CEP290
CACNA1A CRB1
SLC1A3 CRX
GDF6
GUCY2D
IMPDH1
IQCB1
KCNJ13
LCA5
LRAT
NMNAT1
RD3
RDH12
RPE65
RPGRIP1
SPATA7
TULP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A2
ATP1A3
(0.63)
(0.63)
SPATA7
SPATA7



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Leber congenital amaurosis
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
IMPDH1 IQCB1 KCNJ13 LCA5 LRAT NMNAT1
RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1



Alternating hemiplegia of childhood
Leber congenital amaurosis

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
- Amaurosis congenita of Leber

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
18 OMIM references -
1 MeSH reference: D057130

Leber congenital amaurosis

Very frequent
- Autosomal recessive inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal ERG / electroretinogram / electroretinography
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Encephalocele / exencephaly
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Keratoconus / keratoglobus
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability


Alternating hemiplegia of childhood

(no data available)