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CLN3 disease
1 OMIM reference -
1 associated gene
37 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated CoQ-cytochrome C reductase deficiency
Early infantile epileptic encephalopathy
Early myoclonic encephalopathy
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Malignant migrating partial seizures of infancy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Carnitine palmitoyl transferase 1A deficiency
DDOST-CDG
Early-onset spastic ataxia-neuropathy syndrome
Fanconi anemia
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Juvenile amyotrophic lateral sclerosis
Pediatric systemic lupus erythematosus
Spinocerebellar ataxia type 28
3-phosphoglycerate dehydrogenase deficiency
Acrokeratosis verruciformis of Hopf
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 18
Cardiomyopathy - hypotonia - lactic acidosis
Citrullinemia type II
Colobomatous microphthalmia
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
D,L-2-hydroxyglutaric aciduria
DPM1-CDG
Darier disease
Dopamine beta-hydroxylase deficiency
Familial isolated dilated cardiomyopathy
Idiopathic aplastic anemia
Juvenile primary lateral sclerosis
Matthew-Wood syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Recessive intellectual disability - motor dysfunction - multiple joint contractures
SSR4-CDG
Shwachman-Diamond syndrome
X-linked Emery-Dreifuss muscular dystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLN3 Q13286607042
No signs/symptoms info available.