MCID: RTN191
MIFTS: 17

Retinal Dystrophy with or Without Extraocular Anomalies

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 75 6
Rdeoa 57 75
Dystrophy, Retinal, with or Without Extraocular Anomalies 40

Characteristics:

OMIM:

57
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:

32
retinal dystrophy with or without extraocular anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617175
MeSH 44 D058499

Summaries for Retinal Dystrophy with or Without Extraocular Anomalies

UniProtKB/Swiss-Prot : 75 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 retinal dystrophy and goiter

Description from OMIM: 617175

Related Diseases for Retinal Dystrophy with or Without Extraocular Anomalies

Symptoms & Phenotypes for Retinal Dystrophy with or Without Extraocular Anomalies

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 32 HP:0000556
2 goiter 32 occasional (7.5%) HP:0000853
3 secondary amenorrhea 32 occasional (7.5%) HP:0000869
4 pulmonary fibrosis 32 HP:0002206
5 reduced visual acuity 32 HP:0007663
6 premature ovarian insufficiency 32 occasional (7.5%) HP:0008209

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

Anatomical Context for Retinal Dystrophy with or Without Extraocular Anomalies

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

41
Thyroid

Publications for Retinal Dystrophy with or Without Extraocular Anomalies

Variations for Retinal Dystrophy with or Without Extraocular Anomalies

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RCBTB1 NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe) single nucleotide variant Pathogenic/Likely pathogenic rs879255547 GRCh37 Chromosome 13, 50118881: 50118881
2 RCBTB1 NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe) single nucleotide variant Pathogenic/Likely pathogenic rs879255547 GRCh38 Chromosome 13, 49544745: 49544745
3 RCBTB1 NM_018191.3(RCBTB1): c.919G> A (p.Val307Met) single nucleotide variant Pathogenic/Likely pathogenic rs368217569 GRCh37 Chromosome 13, 50123720: 50123720
4 RCBTB1 NM_018191.3(RCBTB1): c.919G> A (p.Val307Met) single nucleotide variant Pathogenic/Likely pathogenic rs368217569 GRCh38 Chromosome 13, 49549584: 49549584

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 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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