Aliases & Classifications for Retinal Aplasia

MalaCards integrated aliases for Retinal Aplasia:

Name: Retinal Aplasia 56 71
Amaurosis Congenita 56

Characteristics:

OMIM:

56
Inheritance:
genetic heterogeneity
autosomal dominant form


HPO:

31
retinal aplasia:
Inheritance autosomal dominant inheritance heterogeneous


External Ids:

OMIM 56 179900
MedGen 41 C1867331
SNOMED-CT via HPO 68 263681008 95486002
UMLS 71 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, liver and bone, and related phenotypes are congenital blindness and renal/urinary system

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 top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 10 32.1 IQCB1 CEP290
2 senior-loken syndrome 1 31.1 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
3 leber congenital amaurosis 1 29.8 IQCB1 CEP290
4 leber congenital amaurosis 29.8 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290 C12orf29
5 retinitis pigmentosa 28.3 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
6 coloboma of macula 28.2 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
7 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.4
8 leber congenital amaurosis 2 12.0
9 keratoconus 1 11.3
10 leber congenital amaurosis 3 11.3
11 leber congenital amaurosis 4 11.3
12 leber congenital amaurosis 5 11.3
13 leber congenital amaurosis 9 11.3
14 leber congenital amaurosis 12 11.3
15 leber congenital amaurosis 11 11.3
16 retinal ciliopathy 10.1 IQCB1 CEP290
17 nephronophthisis 1 10.1 NPHP4 NPHP1
18 ciliopathy 10.1 SDCCAG8 NPHP4
19 joubert syndrome 2 10.0 NPHP1 CEP290
20 simpson-golabi-behmel syndrome, type 2 10.0 SDCCAG8 CEP290
21 bardet-biedl syndrome 13 10.0 SDCCAG8 CEP290
22 retinitis pigmentosa 20 10.0
23 pathologic nystagmus 10.0
24 oguchi disease 10.0
25 joubert syndrome 6 10.0 NPHP1 CEP290
26 joubert syndrome 7 10.0 NPHP1 CEP290
27 joubert syndrome 24 10.0 NPHP1 CEP290
28 joubert syndrome 8 9.9 NPHP1 CEP290
29 meckel syndrome, type 4 9.9 NPHP1 CEP290
30 bardet-biedl syndrome 6 9.9 SDCCAG8 CEP290
31 nephronophthisis 4 9.9 NPHP4 NPHP1
32 hyperuricemic nephropathy, familial juvenile, 1 9.9 NPHP4 NPHP1
33 nephronophthisis 18 9.9 SDCCAG8 NPHP1
34 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP4 NPHP1
35 inherited retinal disorder 9.8 IQCB1 CEP290
36 asphyxiating thoracic dystrophy 9.8
37 keratoconus 9.8
38 cataract 9.8
39 cystic kidney disease 9.8 NPHP4 NPHP1 CEP290
40 schizophrenia 3 9.8 SDCCAG8 AKT3
41 apraxia 9.8 NPHP1 CEP290
42 achromatopsia 9.8 IQCB1 CEP290
43 cogan syndrome 9.8 NPHP4 NPHP1 CEP290
44 nephronophthisis 19 9.8 NPHP4 NPHP1 CEP290
45 meckel syndrome, type 2 9.7 NPHP4 NPHP1 CEP290
46 meckel syndrome, type 6 9.7 NPHP4 NPHP1 CEP290
47 meckel syndrome, type 5 9.7 NPHP4 NPHP1 CEP290
48 joubert syndrome 4 9.7 NPHP4 NPHP1 CEP290
49 meckel syndrome, type 3 9.7 NPHP4 NPHP1 CEP290
50 orofaciodigital syndrome vi 9.7 NPHP4 NPHP1 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:

31
# Description HPO Frequency HPO Source Accession
1 congenital blindness 31 HP:0007875

Symptoms via clinical synopsis from OMIM:

56
Eyes:
retinal aplasia
congenital amaurosis

Clinical features from OMIM:

179900

MGI Mouse Phenotypes related to Retinal Aplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 CEP290 NPHP1 NPHP4 SDCCAG8

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:

40
Kidney, Liver, Bone, Eye

Publications for Retinal Aplasia

Articles related to Retinal Aplasia:

(show all 12)
# Title Authors PMID Year
1
Retinal Aplasia as a Clinical Entity. 61 56
20788857 1960
2
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. 61
22486326 2012
3
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. 61
10471898 1999
4
Mental retardation in amaurosis congenita of Leber. 61
10029347 1998
5
[Evaluation of the efficacy of plasma exchange in Leber's disease]. 61
2085242 1990
6
[Amaurosis congenita (Leber) with severe genital developmental delay]. 61
2797836 1989
7
Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 61
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)]. 61
7265806 1981
9
Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. 61
512782 1979
10
Amaurosis congenita (Leber). 61
1111416 1975
11
Retinal aplasia in association with macular coloboma, keratoconus and cataract. 61
4765210 1973
12
Amaurosis congenita (Leber). 61
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
2 cell projection GO:0042995 9.76 SDCCAG8 NPHP4 NPHP1 CEP290
3 cilium GO:0005929 9.65 NPHP4 NPHP1 CEP290
4 centrosome GO:0005813 9.62 SDCCAG8 NPHP4 IQCB1 CEP290
5 cell-cell junction GO:0005911 9.61 SDCCAG8 NPHP4 NPHP1
6 centriole GO:0005814 9.54 SDCCAG8 IQCB1 CEP290
7 centriolar satellite GO:0034451 9.49 SDCCAG8 CEP290
8 microtubule organizing center GO:0005815 9.46 SDCCAG8 NPHP4 IQCB1 CEP290
9 ciliary basal body GO:0036064 9.43 SDCCAG8 NPHP4 CEP290
10 ciliary transition zone GO:0035869 9.13 NPHP4 NPHP1 CEP290
11 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 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.4 SDCCAG8 CEP290
2 retina development in camera-type eye GO:0060041 9.37 NPHP4 NPHP1
3 photoreceptor cell maintenance GO:0045494 9.32 NPHP4 IQCB1
4 positive regulation of bicellular tight junction assembly GO:1903348 9.26 NPHP4 NPHP1
5 cell projection organization GO:0030030 9.26 SDCCAG8 NPHP1 IQCB1 CEP290
6 visual behavior GO:0007632 9.16 NPHP4 NPHP1
7 ciliary basal body-plasma membrane docking GO:0097711 9.02 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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