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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
18 OMIM references -
18 associated genes
16 signs/symptoms
Glycogen storage disease due to aldolase A deficiency
Leber congenital amaurosis

ALDOA AIPL1
CEP290
CRB1
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)
ALDOA
(0.72)
IQCB1



Citations in the biomedical literature:


Glycogen storage disease due to aldolase A deficiency
ALDOA
Leber congenital amaurosis
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
IMPDH1 IQCB1 KCNJ13 LCA5 LRAT NMNAT1
RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1



Glycogen storage disease due to aldolase A deficiency
Leber congenital amaurosis

Synonym(s):
- GSD due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis due to aldolase A deficiency
- Glycogenosis type 12

Synonym(s):
- Amaurosis congenita of Leber

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
1 OMIM reference -
No MeSH references
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


Glycogen storage disease due to aldolase A deficiency

(no data available)