RDOB
MCID: RTN173
MIFTS: 22

Retinal Dystrophy and Obesity (RDOB)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Retinal Dystrophy and Obesity

MalaCards integrated aliases for Retinal Dystrophy and Obesity:

Name: Retinal Dystrophy and Obesity 57 72 29 6 70
Rdob 57 72
Dystrophy, Retinal, and Obesity 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous caucasian united kingdom family has been reported (last curated january 2015)


HPO:

31
retinal dystrophy and obesity:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616188
UMLS 70 C4015424

Summaries for Retinal Dystrophy and Obesity

UniProtKB/Swiss-Prot : 72 Retinal dystrophy and obesity: A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy.

MalaCards based summary : Retinal Dystrophy and Obesity, also known as rdob, is related to fundus dystrophy and retinitis pigmentosa. An important gene associated with Retinal Dystrophy and Obesity is TUB (TUB Bipartite Transcription Factor). Affiliated tissues include retina, and related phenotypes are obesity and retinal detachment

More information from OMIM: 616188

Related Diseases for Retinal Dystrophy and Obesity

Diseases related to Retinal Dystrophy and Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 29.4 TUB RIC3
2 retinitis pigmentosa 29.2 TUB RIC3
3 yemenite deaf-blind hypopigmentation syndrome 10.0
4 cone dystrophy 10.0
5 night blindness 10.0
6 inherited retinal disorder 10.0

Graphical network of the top 20 diseases related to Retinal Dystrophy and Obesity:



Diseases related to Retinal Dystrophy and Obesity

Symptoms & Phenotypes for Retinal Dystrophy and Obesity

Human phenotypes related to Retinal Dystrophy and Obesity:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 obesity 31 occasional (7.5%) HP:0001513
2 retinal detachment 31 occasional (7.5%) HP:0000541
3 myopia 31 HP:0000545
4 reduced visual acuity 31 HP:0007663
5 astigmatism 31 HP:0000483
6 retinal dystrophy 31 HP:0000556
7 retinal pigment epithelial atrophy 31 HP:0007722
8 peripapillary atrophy 31 HP:0500087

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
myopia
astigmatism
peripapillary atrophy
decreased visual acuity
retinal detachment (rare)
more
Growth Weight:
obesity (in some patients)

Clinical features from OMIM®:

616188 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinal Dystrophy and Obesity

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy and Obesity

Genetic Tests for Retinal Dystrophy and Obesity

Genetic tests related to Retinal Dystrophy and Obesity:

# Genetic test Affiliating Genes
1 Retinal Dystrophy and Obesity 29 TUB

Anatomical Context for Retinal Dystrophy and Obesity

MalaCards organs/tissues related to Retinal Dystrophy and Obesity:

40
Retina

Publications for Retinal Dystrophy and Obesity

Articles related to Retinal Dystrophy and Obesity:

# Title Authors PMID Year
1
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. 57 6 61
24375934 2014
2
Characterization of ciliary targeting sequence of rat melanin-concentrating hormone receptor 1. 61
23467069 2013
3
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 61
19858128 2010

Variations for Retinal Dystrophy and Obesity

ClinVar genetic disease variations for Retinal Dystrophy and Obesity:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIC3 , TUB NM_003320.4(TUB):c.1355_1356AG[2] (p.Arg453fs) Microsatellite Pathogenic 162490 rs727502810 GRCh37: 11:8122122-8122123
GRCh38: 11:8100575-8100576
2 TUB NM_003320.4(TUB):c.42_45del Microsatellite Pathogenic 717299 rs757174356 GRCh37: 11:8060455-8060458
GRCh38: 11:8038908-8038911
3 RIC3 , TUB NM_177972.3(TUB):c.1215+1G>A SNV Likely pathogenic 804249 rs1589996458 GRCh37: 11:8122149-8122149
GRCh38: 11:8100602-8100602

Expression for Retinal Dystrophy and Obesity

Search GEO for disease gene expression data for Retinal Dystrophy and Obesity.

Pathways for Retinal Dystrophy and Obesity

GO Terms for Retinal Dystrophy and Obesity

Sources for Retinal Dystrophy and Obesity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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