Aliases & Classifications for Retinal Aplasia

MalaCards integrated aliases for Retinal Aplasia:

Name: Retinal Aplasia 57 72
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
UMLS 72 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 bone, and related phenotype is congenital blindness.

More information 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 48)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 10 32.7 IQCB1 CEP290
2 senior-loken syndrome 1 32.1 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
3 leber congenital amaurosis 30.7 TMTC3 NPHP4 NPHP1 IQCB1 CEP290 C12orf29
4 retinitis pigmentosa 29.3 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
5 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.4
6 leber congenital amaurosis 2 12.0
7 keratoconus 1 11.3
8 leber congenital amaurosis 3 11.3
9 leber congenital amaurosis 4 11.3
10 leber congenital amaurosis 5 11.3
11 leber congenital amaurosis 9 11.3
12 leber congenital amaurosis 12 11.3
13 leber congenital amaurosis 11 11.3
14 nephronophthisis 1 10.6 NPHP4 NPHP1
15 joubert syndrome 17 10.5 NPHP1 CEP290
16 joubert syndrome 6 10.4 NPHP1 CEP290
17 nephronophthisis 19 10.4 NPHP4 NPHP1
18 joubert syndrome 5 10.4 TMTC3 CEP290
19 meckel syndrome, type 4 10.4 TMTC3 CEP290
20 meckel syndrome, type 3 10.4 NPHP1 CEP290
21 nephronophthisis 4 10.4 NPHP4 NPHP1
22 bietti crystalline corneoretinal dystrophy 10.3 IQCB1 CEP290
23 cogan syndrome 10.3 NPHP4 NPHP1
24 renal dysplasia 10.3 SDCCAG8 NPHP4 CEP290
25 nephronophthisis 9 10.3 NPHP4 NPHP1
26 juvenile nephronophthisis 10.2 NPHP4 NPHP1 IQCB1
27 nephronophthisis 18 10.2 NPHP4 NPHP1 IQCB1
28 nephronophthisis 2 10.2 NPHP4 NPHP1 IQCB1
29 meckel syndrome, type 6 10.2 NPHP4 NPHP1
30 bardet-biedl syndrome 13 10.1 SDCCAG8 CEP290
31 fundus dystrophy 10.1 NPHP1 IQCB1 CEP290
32 meckel syndrome, type 1 10.0 NPHP4 NPHP1 IQCB1 CEP290
33 retinitis pigmentosa 20 10.0
34 pathologic nystagmus 10.0
35 oguchi disease 10.0
36 nephronophthisis 16 10.0 SDCCAG8 NPHP1 IQCB1 CEP290
37 joubert syndrome 1 10.0 NPHP4 NPHP1 IQCB1 CEP290
38 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP4 NPHP1
39 coloboma of macula 9.8
40 leber congenital amaurosis 1 9.8
41 asphyxiating thoracic dystrophy 9.8
42 keratoconus 9.8
43 cataract 9.8
44 nephronophthisis 11 9.8 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
45 senior-loken syndrome 7 9.5 SDCCAG8 MIR4677 AKT3
46 bardet-biedl syndrome 16 9.5 SDCCAG8 MIR4677 AKT3
47 nephronophthisis 9.1 SDCCAG8 NPHP4 NPHP1 MIR4689 KCNAB2 IQCB1
48 bardet-biedl syndrome 7.4 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

Human phenotypes related to Retinal Aplasia:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

Publications for Retinal Aplasia

Articles related to Retinal Aplasia:

(show all 12)
# Title Authors PMID Year
1
Retinal Aplasia as a Clinical Entity. 38 8
20788857 1960
2
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. 38
22486326 2012
3
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. 38
10471898 1999
4
Mental retardation in amaurosis congenita of Leber. 38
10029347 1998
5
[Evaluation of the efficacy of plasma exchange in Leber's disease]. 38
2085242 1990
6
[Amaurosis congenita (Leber) with severe genital developmental delay]. 38
2797836 1989
7
Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 38
3651373 1987
8
[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)]. 38
7265806 1981
9
Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. 38
512782 1979
10
Amaurosis congenita (Leber). 38
1111416 1975
11
Retinal aplasia in association with macular coloboma, keratoconus and cataract. 38
4765210 1973
12
Amaurosis congenita (Leber). 38
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 SDCCAG8 NPHP4 NPHP1 KCNAB2 IQCB1 CEP290
2 centrosome GO:0005813 9.65 SDCCAG8 NPHP4 IQCB1 CEP290 CEP170
3 cell-cell junction GO:0005911 9.5 SDCCAG8 NPHP4 NPHP1
4 ciliary transition zone GO:0035869 9.4 NPHP4 CEP290
5 centriolar satellite GO:0034451 9.37 SDCCAG8 CEP290
6 centriole GO:0005814 9.26 SDCCAG8 IQCB1 CEP290 CEP170
7 photoreceptor connecting cilium GO:0032391 8.92 NPHP4 NPHP1 IQCB1 CEP290

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 NPHP1 IQCB1 CEP290
2 hematopoietic progenitor cell differentiation GO:0002244 9.37 KCNAB2 C12orf29
3 photoreceptor cell maintenance GO:0045494 9.32 NPHP4 IQCB1
4 visual behavior GO:0007632 9.16 NPHP4 NPHP1
5 ciliary basal body-plasma membrane docking GO:0097711 9.02 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
6 positive regulation of bicellular tight junction assembly GO:1903348 8.96 NPHP4 NPHP1

Sources for Retinal Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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