Aliases & Classifications for Retinal Aplasia

MalaCards integrated aliases for Retinal Aplasia:

Name: Retinal Aplasia 57 73
Amaurosis Congenita 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
genetic heterogeneity


HPO:

32
retinal aplasia:
Inheritance heterogeneous autosomal dominant inheritance


External Ids:

OMIM 57 179900
MedGen 42 C1867331
SNOMED-CT via HPO 69 263681008 95486002
UMLS 73 C1867331

Summaries for Retinal Aplasia

MalaCards based summary : Retinal Aplasia, also known as amaurosis congenita, is related to senior-loken syndrome 1 and leber congenital amaurosis 10. 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 liver, 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 44)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 32.1 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
2 leber congenital amaurosis 10 32.0 IQCB1 CEP290
3 leber congenital amaurosis 31.1 TMTC3 NPHP4 NPHP1 IQCB1 CEP290 C12orf29
4 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.2
5 leber congenital amaurosis 1 11.5
6 leber congenital amaurosis 2 11.5
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 10.2 NPHP4 NPHP1
15 joubert syndrome 17 10.2 NPHP1 CEP290
16 joubert syndrome 6 10.2 NPHP1 CEP290
17 nephronophthisis 19 10.2 NPHP4 NPHP1
18 joubert syndrome 5 10.2 TMTC3 CEP290
19 meckel syndrome, type 4 10.2 TMTC3 CEP290
20 meckel syndrome, type 3 10.2 NPHP1 CEP290
21 nephronophthisis 4 10.2 NPHP4 NPHP1
22 bietti crystalline corneoretinal dystrophy 10.1 IQCB1 CEP290
23 cogan syndrome 10.1 NPHP4 NPHP1
24 renal dysplasia 10.1 SDCCAG8 NPHP4 CEP290
25 nephronophthisis 9 10.1 NPHP4 NPHP1
26 juvenile nephronophthisis 10.1 NPHP4 NPHP1 IQCB1
27 nephronophthisis 18 10.1 NPHP4 NPHP1 IQCB1
28 nephronophthisis 2 10.1 NPHP4 NPHP1 IQCB1
29 meckel syndrome, type 6 10.1 NPHP4 NPHP1
30 bardet-biedl syndrome 13 10.0 SDCCAG8 CEP290
31 fundus dystrophy 10.0 NPHP1 IQCB1 CEP290
32 meckel syndrome, type 1 10.0 NPHP4 NPHP1 IQCB1 CEP290
33 nephronophthisis 16 10.0 SDCCAG8 NPHP1 IQCB1 CEP290
34 joubert syndrome 1 10.0 NPHP4 NPHP1 IQCB1 CEP290
35 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP4 NPHP1
36 nephronophthisis 11 9.9 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
37 retinitis pigmentosa 9.8 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
38 senior-loken syndrome 7 9.8 SDCCAG8 MIR4677 AKT3
39 bardet-biedl syndrome 16 9.8 SDCCAG8 MIR4677 AKT3
40 cataract 9.8
41 keratoconus 9.8
42 asphyxiating thoracic dystrophy 9.8
43 nephronophthisis 9.6 SDCCAG8 NPHP4 NPHP1 MIR4689 KCNAB2 IQCB1
44 bardet-biedl syndrome 9.0 TMTC3 SDCCAG8 NPHP4 NPHP1 MIR4677 CEP290

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



Diseases related to Retinal Aplasia

Symptoms & Phenotypes for Retinal Aplasia

Symptoms via clinical synopsis from OMIM:

57
Eyes:
retinal aplasia
congenital amaurosis


Clinical features from OMIM:

179900

Human phenotypes related to Retinal Aplasia:

32
# Description HPO Frequency HPO Source Accession
1 congenital blindness 32 HP:0007875

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:

41
Kidney, Liver

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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