MCID: RTN212
MIFTS: 18

Retinal Dystrophy with or Without Macular Staphyloma

Categories: Genetic diseases

Aliases & Classifications for Retinal Dystrophy with or Without Macular Staphyloma

MalaCards integrated aliases for Retinal Dystrophy with or Without Macular Staphyloma:

Name: Retinal Dystrophy with or Without Macular Staphyloma 57 75 29 6
Rdms 57 75
Retinal Dystrophy with Macular Staphyloma 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617547
MeSH 44 D058499

Summaries for Retinal Dystrophy with or Without Macular Staphyloma

UniProtKB/Swiss-Prot : 75 Retinal dystrophy with or without macular staphyloma: An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients.

MalaCards based summary : Retinal Dystrophy with or Without Macular Staphyloma, also known as rdms, is related to retinitis and fundus dystrophy. An important gene associated with Retinal Dystrophy with or Without Macular Staphyloma is C21orf2 (Chromosome 21 Open Reading Frame 2). Affiliated tissues include retina and eye.

Description from OMIM: 617547

Related Diseases for Retinal Dystrophy with or Without Macular Staphyloma

Diseases related to Retinal Dystrophy with or Without Macular Staphyloma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 10.1
2 fundus dystrophy 10.1

Symptoms & Phenotypes for Retinal Dystrophy with or Without Macular Staphyloma

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced vision
night blindness (in 1 patient)
photophobia (in 1 patient)
nuclear cataract (in 1 patient)
retinal dystrophy
more

Clinical features from OMIM:

617547

Drugs & Therapeutics for Retinal Dystrophy with or Without Macular Staphyloma

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy with or Without Macular Staphyloma

Genetic Tests for Retinal Dystrophy with or Without Macular Staphyloma

Genetic tests related to Retinal Dystrophy with or Without Macular Staphyloma:

# Genetic test Affiliating Genes
1 Retinal Dystrophy with or Without Macular Staphyloma 29 C21orf2

Anatomical Context for Retinal Dystrophy with or Without Macular Staphyloma

MalaCards organs/tissues related to Retinal Dystrophy with or Without Macular Staphyloma:

41
Retina, Eye

Publications for Retinal Dystrophy with or Without Macular Staphyloma

Articles related to Retinal Dystrophy with or Without Macular Staphyloma:

# Title Authors Year
1
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. ( 26294103 )
2015

Variations for Retinal Dystrophy with or Without Macular Staphyloma

UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy with or Without Macular Staphyloma:

75
# Symbol AA change Variation ID SNP ID
1 C21orf2 p.Cys61Tyr VAR_079180 rs1057518441Retinal
2 C21orf2 p.Tyr107Cys VAR_079181

ClinVar genetic disease variations for Retinal Dystrophy with or Without Macular Staphyloma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C21orf2 NM_004928.2(C21orf2): c.182G> A (p.Cys61Tyr) single nucleotide variant Uncertain significance rs1057518441 GRCh37 Chromosome 21, 45753107: 45753107
2 C21orf2 NM_004928.2(C21orf2): c.182G> A (p.Cys61Tyr) single nucleotide variant Uncertain significance rs1057518441 GRCh38 Chromosome 21, 44333224: 44333224
3 C21orf2 NM_004928.2(C21orf2): c.436_466del31 (p.Glu146Serfs) deletion Pathogenic rs746633371 GRCh38 Chromosome 21, 44331922: 44331952
4 C21orf2 NM_004928.2(C21orf2): c.436_466del31 (p.Glu146Serfs) deletion Pathogenic rs746633371 GRCh37 Chromosome 21, 45751805: 45751835
5 C21orf2 NM_004928.2(C21orf2): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs1131690801 GRCh37 Chromosome 21, 45752969: 45752969
6 C21orf2 NM_004928.2(C21orf2): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs1131690801 GRCh38 Chromosome 21, 44333086: 44333086

Expression for Retinal Dystrophy with or Without Macular Staphyloma

Search GEO for disease gene expression data for Retinal Dystrophy with or Without Macular Staphyloma.

Pathways for Retinal Dystrophy with or Without Macular Staphyloma

GO Terms for Retinal Dystrophy with or Without Macular Staphyloma

Sources for Retinal Dystrophy with or Without Macular Staphyloma

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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