CORD10
MCID: CNR021
MIFTS: 22

Cone-Rod Dystrophy 10 (CORD10)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 10

MalaCards integrated aliases for Cone-Rod Dystrophy 10:

Name: Cone-Rod Dystrophy 10 58 12 76 30 13 6 15 74
Cord10 58 12 76
Dystrophy, Cone-Rod, Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic with retinitis pigmentosa 35


HPO:

33
cone-rod dystrophy 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 10

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 10: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 10, is also known as cord10. An important gene associated with Cone-Rod Dystrophy 10 is SEMA4A (Semaphorin 4A). Affiliated tissues include skin and eye, and related phenotypes are photophobia and progressive visual loss

Disease Ontology : 12 A cone-rod dystrophy that has material basis in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.

Description from OMIM: 610283

Related Diseases for Cone-Rod Dystrophy 10

Symptoms & Phenotypes for Cone-Rod Dystrophy 10

Human phenotypes related to Cone-Rod Dystrophy 10:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 progressive visual loss 33 HP:0000529
3 nyctalopia 33 HP:0000662
4 macular degeneration 33 HP:0000608
5 rod-cone dystrophy 33 HP:0000510
6 abnormality of skin pigmentation 33 HP:0001000
7 cone/cone-rod dystrophy 33 HP:0000548
8 peripheral visual field loss 33 HP:0007994
9 epiphora 33 HP:0009926

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
macular degeneration
night blindness
loss of visual acuity, progressive
loss of color vision, progressive
loss of peripheral vision
more

Clinical features from OMIM:

610283

Drugs & Therapeutics for Cone-Rod Dystrophy 10

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 10

Genetic Tests for Cone-Rod Dystrophy 10

Genetic tests related to Cone-Rod Dystrophy 10:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 10 30 SEMA4A

Anatomical Context for Cone-Rod Dystrophy 10

MalaCards organs/tissues related to Cone-Rod Dystrophy 10:

42
Skin, Eye

Publications for Cone-Rod Dystrophy 10

Variations for Cone-Rod Dystrophy 10

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 10:

76
# Symbol AA change Variation ID SNP ID
1 SEMA4A p.Asp345His VAR_028322 rs267607033
2 SEMA4A p.Phe350Cys VAR_028323 rs267607034

ClinVar genetic disease variations for Cone-Rod Dystrophy 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEMA4A NM_001193301.1(SEMA4A): c.1033G> C (p.Asp345His) single nucleotide variant Pathogenic rs267607033 GRCh37 Chromosome 1, 156132784: 156132784
2 SEMA4A NM_001193301.1(SEMA4A): c.1033G> C (p.Asp345His) single nucleotide variant Pathogenic rs267607033 GRCh38 Chromosome 1, 156162993: 156162993
3 SEMA4A NM_001193301.1(SEMA4A): c.1049T> G (p.Phe350Cys) single nucleotide variant Pathogenic rs267607034 GRCh37 Chromosome 1, 156132800: 156132800
4 SEMA4A NM_001193301.1(SEMA4A): c.1049T> G (p.Phe350Cys) single nucleotide variant Pathogenic rs267607034 GRCh38 Chromosome 1, 156163009: 156163009

Expression for Cone-Rod Dystrophy 10

Search GEO for disease gene expression data for Cone-Rod Dystrophy 10.

Pathways for Cone-Rod Dystrophy 10

GO Terms for Cone-Rod Dystrophy 10

Cellular components related to Cone-Rod Dystrophy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 PTGIR SEMA4A

Sources for Cone-Rod Dystrophy 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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