MCID: LBR029
MIFTS: 47

Leber Congenital Amaurosis 17 malady

Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases categories

Summaries for Leber Congenital Amaurosis 17

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48OMIM, 34MalaCards
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MalaCards: Leber Congenital Amaurosis 17, also known as leber congenital amaurosis, is related to leber congenital amaurosis and keratoconus, and has symptoms including encephalocele/exencephaly, keratoconus/keratoglobus and agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (growth differentiation factor 6), and among its related pathways are Retinol metabolism and Chemical carcinogenesis. The compounds nicotinamide and retinyl ester have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and eye, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:48 615360, 604393, 604537, 608553, 610612 611755, 612712, 613341, 613826, 613829, 613835, 613837, 613843, 614186, 179900, 204000, 204100, 604232 more

Aliases & Classifications for Leber Congenital Amaurosis 17

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Sources:
50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
leber congenital amaurosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

leber congenital amaurosis 17 48
leber congenital amaurosis 50 63
amaurosis congenita of leber 50


External Ids:

MESH via Orphanet37 D057130
ICD10 via Orphanet27 H35.5
SNOMED-CT via Orphanet60 193413001
UMLS via Orphanet64 C0339527

Related Diseases for Leber Congenital Amaurosis 17

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 2 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 9
Gucy2d-Related Leber Congenital Amaurosis Rpe65-Related Leber Congenital Amaurosis
Rdh12-Related Leber Congenital Amaurosis Aipl1-Related Leber Congenital Amaurosis
Lca5-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Crb1-Related Leber Congenital Amaurosis Crx-Related Leber Congenital Amaurosis
Nmnat1-Related Leber Congenital Amaurosis Cep290-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Rd3-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Kcnj13-Related Leber Congenital Amaurosis
Iqcb1-Related Leber Congenital Amaurosis leber congenital amaurosis 17

Diseases related to Leber Congenital Amaurosis 17 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis31.4SPATA7, TULP1, LRAT, GUCY2D, CEP290, IQCB1
2keratoconus30.7GUCY2D, AIPL1
3blindness30.7AIPL1, GUCY2D, CEP290, RPE65, RPGRIP1, LCA5
4retinal degeneration30.5IMPDH1, AIPL1, TULP1, LRAT, GUCY2D, RDH12
5nephronophthisis30.4RPGRIP1, IQCB1, CEP290
6retinitis11.0
7retinitis pigmentosa10.9
8leber congenital amaurosis 310.7
9leber congenital amaurosis 110.7
10leber congenital amaurosis 410.7
11leber congenital amaurosis 610.7
12leber congenital amaurosis 1110.7
13leber congenital amaurosis 1210.7
14leber congenital amaurosis 1510.7
15leber congenital amaurosis 210.7
16leber congenital amaurosis 910.7
17leber congenital amaurosis 1010.6
18leber congenital amaurosis 510.6
19leber congenital amaurosis 710.6
20leber congenital amaurosis 810.6
21leber congenital amaurosis 1610.5
22gucy2d-related leber congenital amaurosis10.5
23rpe65-related leber congenital amaurosis10.5
24aipl1-related leber congenital amaurosis10.5
25nmnat1-related leber congenital amaurosis10.5
26kcnj13-related leber congenital amaurosis10.5
27cone-rod dystrophy10.4
28optic atrophy10.4
29retinal dystrophy, early-onset, severe10.4
30rdh12-related leber congenital amaurosis10.4
31lca5-related leber congenital amaurosis10.4
32rpgrip1-related leber congenital amaurosis10.4
33crb1-related leber congenital amaurosis10.4
34crx-related leber congenital amaurosis10.4
35cep290-related leber congenital amaurosis10.4
36impdh1-related leber congenital amaurosis10.4
37rd3-related leber congenital amaurosis10.4
38spata7-related leber congenital amaurosis10.4
39tulp1-related leber congenital amaurosis10.4
40lrat-related leber congenital amaurosis10.4
41iqcb1-related leber congenital amaurosis10.4
42keratoconus 110.3
43stargardt disease10.2
44leber hereditary optic neuropathy10.2
45usher syndrome10.2
46senior-loken syndrome10.2
47joubert syndrome10.2
48metabolic acidosis10.2
49down syndrome10.2
50cataract10.2

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:



Diseases related to leber congenital amaurosis 17

Symptoms for Leber Congenital Amaurosis 17

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

615360

Clinical features from OMIM:

615360, 604393, 604537, 608553, 610612, 611755, 612712, 613341, 613826, 613829 613835, 613837, 613843, 614186, 179900, 204000, 204100, 604232 more

Symptoms:

50 (show all 16)
  • encephalocele/exencephaly
  • keratoconus/keratoglobus
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • abnormal erg/electroretinogram/electroretinography
  • visual loss/blindness/amblyopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinitis pigmentosa/retinal pigmentary changes
  • hearing loss/hypoacusia/deafness
  • cataract/lens opacification
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal recessive inheritance

Drugs & Therapeutics for Leber Congenital Amaurosis 17

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Leber Congenital Amaurosis 17

Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis 17

Search NIH Clinical Center for Leber Congenital Amaurosis 17

Search CenterWatch for Leber Congenital Amaurosis 17

Genetic Tests for Leber Congenital Amaurosis 17

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Anatomical Context for Leber Congenital Amaurosis 17

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34MalaCards
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MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

34
Cerebellum, Eye

Animal Models for Leber Congenital Amaurosis 17 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Leber Congenital Amaurosis 17:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4CRB1, CRX, LCA5, RPE65, CEP290, TULP1
2MP:00053915.6RD3, GDF6, AIPL1, TULP1, LRAT, GUCY2D
3MP:00036315.4CEP290, GUCY2D, LRAT, TULP1, AIPL1, GDF6

Publications for Leber Congenital Amaurosis 17

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Variations for Leber Congenital Amaurosis 17

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:

65
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Ala199ThrVAR_065151
3GDF6p.Asp57HisVAR_070254
4GDF6p.Glu292AspVAR_070255

Clinvar genetic disease variations for Leber Congenital Amaurosis 17:

1
id Gene Name Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
2GDF6GDF6, GLU292ASPsingle nucleotide variantPathogenic
3GDF6NM_001001557.2(GDF6): c.169G> C (p.Asp57His)single nucleotide variantPathogenicrs397514725GRCh37Chr 8, 97172752: 97172752
4GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413

Expression for genes affiliated with Leber Congenital Amaurosis 17

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis 17

Search GEO for disease gene expression data for Leber Congenital Amaurosis 17.

Pathways for genes affiliated with Leber Congenital Amaurosis 17

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Sources:
51PathCards, 31KEGG, 61Thomson Reuters, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN
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Pathways related to Leber Congenital Amaurosis 17 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Retinol metabolism61
9.9RDH12, RPE65
2
Show member pathways
9.4RDH12, RPE65, LRAT
3
Show member pathways
9.4RDH12, RPE65, LRAT
4
Show member pathways
9.4LRAT, RPE65, RDH12
59.0LRAT, GUCY2D, RPE65, RDH12
6
Show member pathways
9.0RDH12, RPE65, GUCY2D, LRAT
7
Show member pathways
9.0RDH12, RPE65, GUCY2D, LRAT
88.8LRAT, GUCY2D, RPE65, NMNAT1, RDH12

Compounds for genes affiliated with Leber Congenital Amaurosis 17

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Sources:
46Novoseek, 12DrugBank, 25HMDB
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Compounds related to Leber Congenital Amaurosis 17 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nicotinamide46 1211.0IMPDH1, NMNAT1
2retinyl ester46 2510.6RPE65, LRAT
311-cis-retinol46 2510.5LRAT, RPE65
4retinoid469.1CRX, RPE65, LRAT
5vitamin a46 25 1210.5RDH12, RPE65, GUCY2D, LRAT, AIPL1

GO Terms for genes affiliated with Leber Congenital Amaurosis 17

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17Gene Ontology
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Cellular components related to Leber Congenital Amaurosis 17 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:0323919.7IQCB1, CEP290
2photoreceptor outer segmentGO:0017509.5IQCB1, TULP1
3photoreceptor inner segmentGO:0019179.0TULP1, AIPL1

Biological processes related to Leber Congenital Amaurosis 17 according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1establishment or maintenance of cell polarityGO:0071639.8CRB1, CEP290
2vitamin A metabolic processGO:0067769.5LRAT, RPE65
3retinol metabolic processGO:0425729.4RDH12, LRAT
4retinoid metabolic processGO:0015239.4RDH12, RPE65, LRAT
5photoreceptor cell maintenanceGO:0454949.1RDH12, LCA5, IQCB1, TULP1
6eye photoreceptor cell developmentGO:0424629.1CRB1, RPGRIP1, CEP290, TULP1
7response to stimulusGO:0508968.9SPATA7, RPGRIP1, CRX, RD3
8retina development in camera-type eyeGO:0600418.9TULP1, CEP290, RPGRIP1, CRX, RD3
9phototransduction, visible lightGO:0076038.6AIPL1, LRAT, GUCY2D, RPE65, RDH12
10visual perceptionGO:0076016.5RD3, AIPL1, SPATA7, TULP1, LRAT, GUCY2D

Molecular functions related to Leber Congenital Amaurosis 17 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.3RDH12, NMNAT1, CRB1, LCA5, RPGRIP1, IQCB1

Products for genes affiliated with Leber Congenital Amaurosis 17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Congenital Amaurosis 17

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet