Aliases & Classifications for Retinal Aplasia

MalaCards integrated aliases for Retinal Aplasia:

Name: Retinal Aplasia 58 74
Amaurosis Congenita 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form
genetic heterogeneity


HPO:

33
retinal aplasia:
Inheritance heterogeneous autosomal dominant inheritance


External Ids:

OMIM 58 179900
MedGen 43 C1867331
SNOMED-CT via HPO 70 263681008 95486002
UMLS 74 C1867331

Summaries for Retinal Aplasia

MalaCards based summary : Retinal Aplasia, also known as amaurosis congenita, is related to leber congenital amaurosis 10 and senior-loken syndrome 1. An important gene associated with Retinal Aplasia is NPHP4 (Nephrocystin 4), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotype is congenital blindness.

Description from OMIM: 179900

Related Diseases for Retinal Aplasia

Diseases related to Retinal Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 10 32.2 CEP290 IQCB1
2 senior-loken syndrome 1 32.1 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
3 leber congenital amaurosis 30.9 C12orf29 CEP290 IQCB1 NPHP1 NPHP4 TMTC3
4 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.3
5 leber congenital amaurosis 2 11.8
6 leber congenital amaurosis 1 11.6
7 keratoconus 1 11.2
8 leber congenital amaurosis 3 11.2
9 leber congenital amaurosis 4 11.2
10 leber congenital amaurosis 5 11.2
11 leber congenital amaurosis 9 11.2
12 leber congenital amaurosis 12 11.2
13 leber congenital amaurosis 11 11.2
14 nephronophthisis 1 10.3 NPHP1 NPHP4
15 joubert syndrome 17 10.3 CEP290 NPHP1
16 joubert syndrome 6 10.3 CEP290 NPHP1
17 nephronophthisis 19 10.3 NPHP1 NPHP4
18 joubert syndrome 5 10.3 CEP290 TMTC3
19 meckel syndrome, type 4 10.2 CEP290 TMTC3
20 meckel syndrome, type 3 10.2 CEP290 NPHP1
21 nephronophthisis 4 10.2 NPHP1 NPHP4
22 bietti crystalline corneoretinal dystrophy 10.2 CEP290 IQCB1
23 cogan syndrome 10.2 NPHP1 NPHP4
24 renal dysplasia 10.2 CEP290 NPHP4 SDCCAG8
25 nephronophthisis 9 10.2 NPHP1 NPHP4
26 juvenile nephronophthisis 10.2 IQCB1 NPHP1 NPHP4
27 nephronophthisis 18 10.1 IQCB1 NPHP1 NPHP4
28 nephronophthisis 2 10.1 IQCB1 NPHP1 NPHP4
29 meckel syndrome, type 6 10.1 NPHP1 NPHP4
30 bardet-biedl syndrome 13 10.1 CEP290 SDCCAG8
31 fundus dystrophy 10.1 CEP290 IQCB1 NPHP1
32 retinitis pigmentosa 20 10.0
33 meckel syndrome, type 1 10.0 CEP290 IQCB1 NPHP1 NPHP4
34 nephronophthisis 16 10.0 CEP290 IQCB1 NPHP1 SDCCAG8
35 joubert syndrome 1 10.0 CEP290 IQCB1 NPHP1 NPHP4
36 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP1 NPHP4
37 nephronophthisis 11 9.8 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
38 coloboma of macula 9.8
39 cataract 9.8
40 keratoconus 9.8
41 asphyxiating thoracic dystrophy 9.8
42 retinitis pigmentosa 9.7 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
43 senior-loken syndrome 7 9.7 AKT3 MIR4677 SDCCAG8
44 bardet-biedl syndrome 16 9.7 AKT3 MIR4677 SDCCAG8
45 nephronophthisis 9.4 CEP290 IQCB1 KCNAB2 MIR4689 NPHP1 NPHP4
46 bardet-biedl syndrome 8.4 AKT3 C12orf29 CEP170 CEP290 MIR4677 NPHP1

Graphical network of the top 20 diseases related to Retinal Aplasia:



Diseases related to Retinal Aplasia

Symptoms & Phenotypes for Retinal Aplasia

Human phenotypes related to Retinal Aplasia:

33
# Description HPO Frequency HPO Source Accession
1 congenital blindness 33 HP:0007875

Symptoms via clinical synopsis from OMIM:

58
Eyes:
retinal aplasia
congenital amaurosis

Clinical features from OMIM:

179900

Drugs & Therapeutics for Retinal Aplasia

Search Clinical Trials , NIH Clinical Center for Retinal Aplasia

Genetic Tests for Retinal Aplasia

Anatomical Context for Retinal Aplasia

MalaCards organs/tissues related to Retinal Aplasia:

42
Kidney

Publications for Retinal Aplasia

Articles related to Retinal Aplasia:

# Title Authors Year
1
Amaurosis congénita de Leber RPE-65, seguimiento a 7 años. ( 29414951 )
2017
2
Mental retardation in amaurosis congenita of Leber. ( 10029347 )
1998
3
Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. ( 512782 )
1979
4
Amaurosis congenita (Leber). ( 1111416 )
1975
5
Retinal aplasia in association with macular coloboma, keratoconus and cataract. ( 4765210 )
1973
6
Retinal Aplasia as a Clinical Entity. ( 20788857 )
1960
7
Amaurosis congenita (Leber). ( 13616783 )
1959

Variations for Retinal Aplasia

Expression for Retinal Aplasia

Search GEO for disease gene expression data for Retinal Aplasia.

Pathways for Retinal Aplasia

GO Terms for Retinal Aplasia

Cellular components related to Retinal Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.7 CEP170 CEP290 IQCB1 KCNAB2 NPHP1 NPHP4
2 centrosome GO:0005813 9.65 CEP170 CEP290 IQCB1 NPHP4 SDCCAG8
3 cell-cell junction GO:0005911 9.5 NPHP1 NPHP4 SDCCAG8
4 ciliary transition zone GO:0035869 9.4 CEP290 NPHP4
5 centriolar satellite GO:0034451 9.37 CEP290 SDCCAG8
6 centriole GO:0005814 9.26 CEP170 CEP290 IQCB1 SDCCAG8
7 photoreceptor connecting cilium GO:0032391 8.92 CEP290 IQCB1 NPHP1 NPHP4

Biological processes related to Retinal Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.43 CEP290 IQCB1 NPHP1
2 hematopoietic progenitor cell differentiation GO:0002244 9.37 C12orf29 KCNAB2
3 photoreceptor cell maintenance GO:0045494 9.32 IQCB1 NPHP4
4 visual behavior GO:0007632 9.16 NPHP1 NPHP4
5 ciliary basal body-plasma membrane docking GO:0097711 9.02 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
6 positive regulation of bicellular tight junction assembly GO:1903348 8.96 NPHP1 NPHP4

Sources for Retinal Aplasia

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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