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Leber congenital amaurosis
18 OMIM references -
18 associated genes
182 connected diseases
16 signs/symptoms
Disease Type of connection
Retinitis pigmentosa
Cone rod dystrophy
Severe early-childhood-onset retinal dystrophy
Senior-Loken syndrome
Meckel syndrome
Joubert syndrome with oculorenal defect
Bardet-Biedl syndrome
Central areolar choroidal dystrophy
Choroideremia
Colobomatous microphthalmia
Isolated Klippel-Feil syndrome
Pigmented paravenous retinochoroidal atrophy
Snowflake vitreoretinal degeneration
Epidermolytic palmoplantar keratoderma
Pachyonychia congenita
Keratosis palmoplantaris striata
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Achromatopsia
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Congenital analbuminemia
Familial prostate cancer
Mitochondrial trifunctional protein deficiency
B-cell chronic lymphocytic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Young adult-onset Parkinsonism
Alternating hemiplegia of childhood
Annular epidermolytic ichthyosis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Mosaic variegated aneuploidy syndrome
Catecholaminergic polymorphic ventricular tachycardia
Spinocerebellar ataxia type 7
Multiple osteochondromas
Potocki-Shaffer syndrome
Brachydactyly type A2
Brachydactyly type C
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Juvenile polyposis of infancy
Pulmonary venoocclusive disease
17p13.3 microduplication syndrome
Acute fatty liver of pregnancy
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
Cardiomyopathy - hypotonia - lactic acidosis
Chronic intestinal pseudoobstruction
Congenital fibrosis of extraocular muscles
Congenital short bowel syndrome
Congenital valvular dysplasia
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysplasia - focal epilepsy syndrome
Developmental malformations - deafness - dystonia
Diffuse palmoplantar keratoderma with painful fissures
Dihydropteridine reductase deficiency
Distal hereditary motor neuropathy type 2
Distal myopathy with posterior leg and anterior hand involvement
Early infantile epileptic encephalopathy
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Ehlers-Danlos syndrome with periventricular heterotopia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial leiomyomatosis
Familial pancreatic carcinoma
Focal palmoplantar keratoderma with joint keratoses
Frontometaphyseal dysplasia
Fumaric aciduria
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Idiopathic pulmonary fibrosis
Isolated ATP synthase deficiency
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Lethal acantholytic epidermolysis bullosa
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Metachondromatosis
Miller-Dieker syndrome
Muscle filaminopathy
Noonan syndrome
Nuclear cataract
Oculocerebrofacial syndrome, Kaufman type
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta type 3
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Pitt-Hopkins-like syndrome
Primary peritoneal carcinoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Simpson-Golabi-Behmel syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Subcortical band heterotopia
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Terminal osseous dysplasia - pigmentary defects
Triose phosphate-isomerase deficiency
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked non-syndromic intellectual deficit
Nestor-Guillermo progeria syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Goldmann-Favre syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Adult-onset distal myopathy due to VCP mutation
Alveolar soft-part sarcoma
Amyotrophic lateral sclerosis
Autosomal recessive epidermolysis bullosa simplex
Behavioral variant of frontotemporal dementia
CARASIL
Carney complex
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Congenital reticular ichthyosiform erythroderma
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Dyskeratosis congenita
Epidermolysis bullosa simplex with circinate migratory erythema
Estrogen resistance syndrome
Familial atrial myxoma
Familial or sporadic hemiplegic migraine
Glycogen storage disease due to LAMP-2 deficiency
Hoyeraal-Hreidarsson syndrome
Hypodontia - dysplasia of nails
Hypotrichosis simplex of the scalp
Ichthyosis hystrix of Curth-Macklin
Inherited acute myeloid leukemia
Lennox-Gastaut syndrome
Multiple endocrine neoplasia type 1
Naegeli-Franceschetti-Jadassohn syndrome
Oligodontia
Pilocytic astrocytoma
Primary pigmented nodular adrenocortical disease
Progressive non-fluent aphasia
Rapid-onset dystonia-parkinsonism
Retinopathy - anemia- central nervous system anomalies
Sebocystomatosis
Semantic dementia
Spastic paraplegia - Paget disease of bone
Superficial epidermolytic ichthyosis
Translocation renal cell carcinoma
Woolly hair
Precursor T-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Bradyopsia
Papillary or follicular thyroid carcinoma
Progressive cone dystrophy
Progressive retinal dystrophy due to retinol transport defect
Synonym(s):
- Amaurosis congenita of Leber
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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:
18 OMIM references -
1 MeSH reference: D057130
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