MCID: LBR033
MIFTS: 10

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Aliases & Classifications for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards integrated aliases for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

Name: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 25
Eosrd 25
Lca 25

Summaries for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards based summary : Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, also known as eosrd, is related to leber congenital amaurosis 1 and littoral cell angioma of the spleen. Affiliated tissues include brain, kidney and liver.

GeneReviews: NBK531510

Related Diseases for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 1 11.9
2 littoral cell angioma of the spleen 11.8
3 anomalous left coronary artery from the pulmonary artery 11.3
4 senior-loken syndrome 1 11.2
5 leber congenital amaurosis 2 11.1
6 leber congenital amaurosis 4 11.1
7 joubert syndrome with oculorenal anomalies 11.1
8 severe early-childhood-onset retinal dystrophy 11.1
9 leber congenital amaurosis 9 11.0
10 senior-loken syndrome 5 11.0
11 leber congenital amaurosis 6 11.0
12 leber congenital amaurosis 7 11.0
13 leber congenital amaurosis 8 11.0
14 leber congenital amaurosis 11 11.0
15 leber congenital amaurosis 10.3
16 fundus dystrophy 10.3
17 leber congenital amaurosis 5 10.2
18 retinitis pigmentosa 10.1
19 leukoencephalopathy, brain calcifications, and cysts 10.1
20 leukoencephalopathy, cerebral calcifications, and cysts 10.1
21 coloboma of macula 9.9
22 multiple sclerosis 9.9
23 systemic lupus erythematosus 9.9
24 pelger-huet anomaly 9.9
25 rheumatoid arthritis 9.9
26 cystic fibrosis 9.9
27 pulmonary alveolar microlithiasis 9.9
28 cardiomyopathy, infantile hypertrophic 9.9
29 liver cirrhosis 9.9
30 obstructive nephropathy 9.9
31 alcoholic cardiomyopathy 9.9
32 cholestasis 9.9
33 rectum cancer 9.9
34 kidney cancer 9.9
35 myocarditis 9.9
36 retinal degeneration 9.9
37 lupus erythematosus 9.9
38 heparin-induced thrombocytopenia 9.9
39 polymyositis 9.9
40 streptococcal group a invasive disease 9.9

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:



Diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Symptoms & Phenotypes for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Drugs & Therapeutics for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Genetic Tests for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Anatomical Context for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards organs/tissues related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

42
Brain, Kidney, Liver, Spleen

Publications for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Articles related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

# Title Authors Year
1
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. ( 28689169 )
2017

Variations for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Expression for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Search GEO for disease gene expression data for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy.

Pathways for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

GO Terms for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Sources for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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