CORD10
MCID: CNR021
MIFTS: 30

Cone-Rod Dystrophy 10 (CORD10)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 10

MalaCards integrated aliases for Cone-Rod Dystrophy 10:

Name: Cone-Rod Dystrophy 10 56 12 73 29 13 6 15 71
Cord10 56 12 73
Dystrophy, Cone-Rod, Type 10 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic with retinitis pigmentosa 35


HPO:

31
cone-rod dystrophy 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111017
OMIM 56 610283
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
MedGen 41 C1846529
UMLS 71 C1846529

Summaries for Cone-Rod Dystrophy 10

UniProtKB/Swiss-Prot : 73 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, also known as cord10, is related to retinitis pigmentosa 35 and kallmann syndrome. An important gene associated with Cone-Rod Dystrophy 10 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are Semaphorin interactions and Axon guidance. Affiliated tissues include eye and skin, and related phenotypes are rod-cone dystrophy and nyctalopia

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

More information from OMIM: 610283 PS120970

Related Diseases for Cone-Rod Dystrophy 10

Symptoms & Phenotypes for Cone-Rod Dystrophy 10

Human phenotypes related to Cone-Rod Dystrophy 10:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 photophobia 31 HP:0000613
4 progressive visual loss 31 HP:0000529
5 abnormality of skin pigmentation 31 HP:0001000
6 peripheral visual field loss 31 HP:0007994
7 macular degeneration 31 HP:0000608
8 cone/cone-rod dystrophy 31 HP:0000548
9 epiphora 31 HP:0009926

Symptoms via clinical synopsis from OMIM:

56
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 29 SEMA4A

Anatomical Context for Cone-Rod Dystrophy 10

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

40
Eye, Skin

Publications for Cone-Rod Dystrophy 10

Articles related to Cone-Rod Dystrophy 10:

# Title Authors PMID Year
1
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 56 6
16199541 2006
2
Cone rod dystrophies. 6
17270046 2007
3
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
4
Clinical features of retinal diseases masquerading as retrobulbar optic neuritis. 61
24033953 2013

Variations for Cone-Rod Dystrophy 10

ClinVar genetic disease variations for Cone-Rod Dystrophy 10:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEMA4A NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His)SNV Pathogenic 3360 rs267607033 1:156132784-156132784 1:156162993-156162993
2 SEMA4A NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)SNV Pathogenic 3361 rs267607034 1:156132800-156132800 1:156163009-156163009

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

73
# Symbol AA change Variation ID SNP ID
1 SEMA4A p.Asp345His VAR_028322 rs267607033
2 SEMA4A p.Phe350Cys VAR_028323 rs267607034

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 extracellular space GO:0005615 9.35 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
2 integral component of plasma membrane GO:0005887 9.02 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C

Biological processes related to Cone-Rod Dystrophy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.83 SIM2 SEMA6D SEMA4A SEMA3E SEMA3C
2 cell differentiation GO:0030154 9.8 SIM2 SEMA6D SEMA4A SEMA3E SEMA3C
3 nervous system development GO:0007399 9.77 SIM2 SEMA6D SEMA4A SEMA3E SEMA3C
4 positive regulation of cell migration GO:0030335 9.72 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
5 neural crest cell migration GO:0001755 9.65 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
6 negative chemotaxis GO:0050919 9.55 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
7 negative regulation of angiogenesis GO:0016525 9.46 SEMA4A SEMA3E
8 semaphorin-plexin signaling pathway GO:0071526 9.35 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
9 negative regulation of axon extension involved in axon guidance GO:0048843 9.02 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C

Molecular functions related to Cone-Rod Dystrophy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemorepellent activity GO:0045499 9.35 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C
2 semaphorin receptor binding GO:0030215 9.02 SEMA6D SEMA4A SEMA3F SEMA3E SEMA3C

Sources for Cone-Rod Dystrophy 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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