MCID: RTN173
MIFTS: 20

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 57 75 29 6 73
Rdob 57 75
Dystrophy, Retinal, and Obesity 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinal dystrophy and obesity:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinal Dystrophy and Obesity

UniProtKB/Swiss-Prot : 75 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 retinitis and fundus dystrophy. An important gene associated with Retinal Dystrophy and Obesity is TUB (Tubby Bipartite Transcription Factor). Affiliated tissues include retina, and related phenotypes are astigmatism and visual impairment

Description 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 retinitis 9.8
2 fundus dystrophy 9.8

Symptoms & Phenotypes for Retinal Dystrophy and Obesity

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 astigmatism 32 HP:0000483
2 visual impairment 32 HP:0000505
3 retinal detachment 32 occasional (7.5%) HP:0000541
4 myopia 32 HP:0000545
5 retinal dystrophy 32 HP:0000556
6 obesity 32 occasional (7.5%) HP:0001513
7 reduced visual acuity 32 HP:0007663

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:

41
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
2 TUB NM_177972.2(TUB): c.1194_1195delAG (p.Arg398Serfs) deletion Pathogenic rs727502810 GRCh38 Chromosome 11, 8100580: 8100581

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 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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