MCID: RTN173
MIFTS: 21

Retinal Dystrophy and Obesity

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 53 71 28 69
Rdob 53 71

Characteristics:

OMIM:

53
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:



Summaries for Retinal Dystrophy and Obesity

UniProtKB/Swiss-Prot : 71 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 body mass index quantitative trait locus 11 and body mass index quantitative trait locus 9, and has symptoms including obesity, visual impairment and myopia. An important gene associated with Retinal Dystrophy and Obesity is TUB (Tubby Bipartite Transcription Factor). Affiliated tissues include retina.

Description from OMIM: 616188

Related Diseases for Retinal Dystrophy and Obesity

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
myopia
astigmatism
decreased visual acuity
retinal detachment (rare)
peripapillary atrophy
more
Growth Weight:
obesity (in some patients)


Clinical features from OMIM:

616188

Human phenotypes related to Retinal Dystrophy and Obesity:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 obesity 31 occasional (7.5%) HP:0001513
2 visual impairment 31 HP:0000505
3 myopia 31 HP:0000545
4 reduced visual acuity 31 HP:0007663
5 retinal detachment 31 occasional (7.5%) HP:0000541
6 astigmatism 31 HP:0000483
7 retinal dystrophy 31 HP:0000556

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 28 TUB

Anatomical Context for Retinal Dystrophy and Obesity

MalaCards organs/tissues related to Retinal Dystrophy and Obesity:

38
Retina

Publications for Retinal Dystrophy and Obesity

Articles related to Retinal Dystrophy and Obesity:

# Title Authors Year
1
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity. ( 24375934 )
2013

Variations for Retinal Dystrophy and Obesity

ClinVar genetic disease variations for Retinal Dystrophy and Obesity:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUB NM_177972.2(TUB): c.1194_1195delAG (p.Arg398Serfs) deletion Pathogenic rs727502810 GRCh37 Chromosome 11, 8122127: 8122128

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....