GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Leber Congenital Amaurosis  
Disease Aliases (46)

Amaurosis congenita of leber i

Abiotrophies, leber

Abiotrophy, leber

Amauroses, leber congenital

Amauroses, leber's

Amaurosis congenita of leber

Amaurosis congenita of leber, type 1

Amaurosis, leber congenital

Amaurosis, leber's

Blindness, congenital retinal

Blindnesses, congenital retinal

Crb

Crb - congenital retinal blindness

Congenital amauroses, leber

Congenital amaurosis of retinal origin

Congenital amaurosis, leber

Congenital retinal blindness

Congenital retinal blindnesses

Congenital absence of the rods and cones

Dysgenesis neuroepithelialis retinae

Gucy2d leber congenital amaurosis

Hereditary epithelial dysplasia of retina

Hereditary retinal aplasia

Heredoretinopathia congenitalis

Lca

Lca1

Leber abiotrophies

Leber abiotrophy

Leber amaurosis

Leber congenital amauroses

Leber congenital tapetoretinal degeneration

Leber congenital amaurosis

Leber congenital amaurosis 1

Leber congenital amaurosis 1; lca1

Leber congenital amaurosis caused by mutation in gucy2d

Leber congenital amaurosis type 1

Leber's amauroses

Leber's amaurosis

Leber's congenital amaurosis

Leber's congenital tapetoretinal degeneration

Leber's congenital tapetoretinal dysplasia

Leber's disease

Lebers amaurosis

Retinal blindness, congenital

Retinal blindnesses, congenital

Amaurosis congenita of leber 1

Associated Genes (21)
 

NCBI-RefSeq:  AIPL1   (Aryl hydrocarbon receptor interacting protein like 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GDF6   (Growth differentiation factor 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GUCY2D   (Guanylate cyclase 2D, retinal)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IMPDH1   (Inosine monophosphate dehydrogenase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KCNJ13   (Potassium inwardly rectifying channel subfamily J member 13)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  LRAT   (Lecithin retinol acyltransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPE65   (Retinoid isomerohydrolase RPE65)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IQCB1   (IQ motif containing B1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PCYT1A   (Phosphate cytidylyltransferase 1A, choline)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TULP1   (TUB like protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPGRIP1   (RPGR interacting protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NMNAT1   (Nicotinamide nucleotide adenylyltransferase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RD3   (RD3 regulator of GUCY2D)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RDH12   (Retinol dehydrogenase 12)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  USP45   (Ubiquitin specific peptidase 45)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SPATA7   (Spermatogenesis associated 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CRB1   (Crumbs cell polarity complex component 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CRX   (Cone-rod homeobox)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  LCA5   (Lebercilin LCA5)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CEP290   (Centrosomal protein 290)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT140   (Intraflagellar transport 140)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Leber congenital amaurosis OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations