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 autosomal dominant inheritance heterogeneous


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-l√łken syndrome 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. 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 32)
# Related Disease Score Top Affiliating Genes
1 senior-løken syndrome 32.1 CEP290 IQCB1 NPHP4
2 senior-loken syndrome 1 31.5 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
3 leber congenital amaurosis 29.8 C12orf29 CEP290 IQCB1 NPHP1 NPHP4 TMTC3
4 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.1
5 leber congenital amaurosis 1 11.4
6 leber congenital amaurosis 2 11.3
7 joubert syndrome with oculorenal anomalies 10.7 CEP290 NPHP4
8 nephronophthisis 2 10.6 NPHP1 NPHP4
9 nephronophthisis 4 10.5 NPHP1 NPHP4
10 leber congenital amaurosis 10 10.5 CEP290 IQCB1
11 meckel syndrome, type 4 10.5 CEP290 TMTC3
12 joubert syndrome 5 10.5 CEP290 TMTC3
13 hyperuricemic nephropathy, familial juvenile, 1 10.5 NPHP1 NPHP4
14 nephronophthisis 1 10.4 NPHP1 NPHP4
15 renal dysplasia 10.4 CEP290 NPHP4 SDCCAG8
16 cogan syndrome 10.3 NPHP1 NPHP4
17 juvenile nephronophthisis 10.3 IQCB1 NPHP1 NPHP4
18 bardet-biedl syndrome 13 10.3 CEP290 SDCCAG8
19 meckel syndrome, type 1 10.3 CEP290 NPHP1 NPHP4
20 polycystic liver disease 1 with or without kidney cysts 10.1 NPHP1 NPHP4
21 fundus dystrophy 10.1 CEP290 IQCB1 NPHP1
22 joubert syndrome 1 10.0 CEP290 IQCB1 NPHP1 NPHP4
23 retinitis 9.9
24 bardet-biedl syndrome 1 9.9 NPHP1 SDCCAG8
25 cataract 9.7
26 keratoconus 9.7
27 asphyxiating thoracic dystrophy 9.7
28 senior-loken syndrome 7 9.4 AKT3 MIR4677 SDCCAG8
29 bardet-biedl syndrome 16 9.4 AKT3 MIR4677 SDCCAG8
30 retinitis pigmentosa 9.4 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
31 nephronophthisis 9.3 CEP290 IQCB1 MIR4689 NPHP1 NPHP4 SDCCAG8
32 bardet-biedl syndrome 6.6 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

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

Publications for Retinal Aplasia

Articles related to Retinal Aplasia:

# Title Authors Year
1
Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. ( 512782 )
1979
2
Retinal aplasia in association with macular coloboma, keratoconus and cataract. ( 4765210 )
1973
3
Retinal Aplasia as a Clinical Entity. ( 20788857 )
1960

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 cilium GO:0005929 9.61 CEP290 NPHP1 NPHP4
4 cell-cell junction GO:0005911 9.5 NPHP1 NPHP4 SDCCAG8
5 ciliary transition zone GO:0035869 9.4 CEP290 NPHP4
6 centriolar satellite GO:0034451 9.37 CEP290 SDCCAG8
7 centriole GO:0005814 9.26 CEP170 CEP290 IQCB1 SDCCAG8
8 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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