RDEOA
MCID: RTN191
MIFTS: 19

Retinal Dystrophy with or Without Extraocular Anomalies (RDEOA)

Categories: Genetic diseases

Aliases & Classifications for Retinal Dystrophy with or Without Extraocular Anomalies

MalaCards integrated aliases for Retinal Dystrophy with or Without Extraocular Anomalies:

Name: Retinal Dystrophy with or Without Extraocular Anomalies 57 72 36 29 6
Rdeoa 57 72
Dystrophy, Retinal, with or Without Extraocular Anomalies 39

Characteristics:

OMIM®:

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

Miscellaneous:
severe retinal dystrophy with onset in second decade of life in 1 family
progressive retinal dystrophy with onset in fourth or fifth decades of life in most patients
extraocular anomalies variably present in affected individuals


HPO:

31
retinal dystrophy with or without extraocular anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617175
KEGG 36 H02289
MeSH 44 D058499

Summaries for Retinal Dystrophy with or Without Extraocular Anomalies

UniProtKB/Swiss-Prot : 72 Retinal dystrophy with or without extraocular anomalies: An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency.

MalaCards based summary : Retinal Dystrophy with or Without Extraocular Anomalies, is also known as rdeoa. An important gene associated with Retinal Dystrophy with or Without Extraocular Anomalies is RCBTB1 (RCC1 And BTB Domain Containing Protein 1). Affiliated tissues include thyroid, and related phenotypes are premature ovarian insufficiency and secondary amenorrhea

KEGG : 36 Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor.

More information from OMIM: 617175

Related Diseases for Retinal Dystrophy with or Without Extraocular Anomalies

Symptoms & Phenotypes for Retinal Dystrophy with or Without Extraocular Anomalies

Human phenotypes related to Retinal Dystrophy with or Without Extraocular Anomalies:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 occasional (7.5%) HP:0008209
2 secondary amenorrhea 31 occasional (7.5%) HP:0000869
3 goiter 31 occasional (7.5%) HP:0000853
4 pulmonary fibrosis 31 HP:0002206
5 reduced visual acuity 31 HP:0007663
6 retinal dystrophy 31 HP:0000556

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
decreased visual acuity
retinal dystrophy, progressive
preserved peripheral visual fields
chorioretinal macular atrophy, progressive
reticular dystrophy, peripheral pattern-like
more
Head And Neck Ears:
sensorineural hearing loss, adult-onset (in some patients)

Respiratory Lung:
pulmonary fibrosis (in 1 patient)

Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
goiter (in some patients)
elevated thyroglobulin
normal thyroid stimulating hormone (tsh) levels
more
Head And Neck Neck:
goiter (in some patients)
thyroid nodules (in 1 patient)

Genitourinary Internal Genitalia Female:
secondary amenorrhea (in some patients)

Clinical features from OMIM®:

617175 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinal Dystrophy with or Without Extraocular Anomalies

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy with or Without Extraocular Anomalies

Genetic Tests for Retinal Dystrophy with or Without Extraocular Anomalies

Genetic tests related to Retinal Dystrophy with or Without Extraocular Anomalies:

# Genetic test Affiliating Genes
1 Retinal Dystrophy with or Without Extraocular Anomalies 29 RCBTB1

Anatomical Context for Retinal Dystrophy with or Without Extraocular Anomalies

MalaCards organs/tissues related to Retinal Dystrophy with or Without Extraocular Anomalies:

40
Thyroid

Publications for Retinal Dystrophy with or Without Extraocular Anomalies

Articles related to Retinal Dystrophy with or Without Extraocular Anomalies:

# Title Authors PMID Year
1
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 6 57
27486781 2016

Variations for Retinal Dystrophy with or Without Extraocular Anomalies

ClinVar genetic disease variations for Retinal Dystrophy with or Without Extraocular Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RCBTB1 NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) SNV Pathogenic 253020 rs879255547 GRCh37: 13:50118881-50118881
GRCh38: 13:49544745-49544745
2 RCBTB1 NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) SNV Pathogenic 253016 rs368217569 GRCh37: 13:50123720-50123720
GRCh38: 13:49549584-49549584

UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy with or Without Extraocular Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 RCBTB1 p.Val307Met VAR_077962 rs368217569
2 RCBTB1 p.Trp310Cys VAR_077963 rs772592456
3 RCBTB1 p.His325Tyr VAR_077964 rs200826424
4 RCBTB1 p.Leu388Phe VAR_077966 rs879255547

Expression for Retinal Dystrophy with or Without Extraocular Anomalies

Search GEO for disease gene expression data for Retinal Dystrophy with or Without Extraocular Anomalies.

Pathways for Retinal Dystrophy with or Without Extraocular Anomalies

GO Terms for Retinal Dystrophy with or Without Extraocular Anomalies

Sources for Retinal Dystrophy with or Without Extraocular Anomalies

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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