MCID: CNR021
MIFTS: 18

Cone-Rod Dystrophy 10

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 10

MalaCards integrated aliases for Cone-Rod Dystrophy 10:

Name: Cone-Rod Dystrophy 10 57 12 75 29 13 6 73
Cord10 57 12 75
Dystrophy, Cone-Rod, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic with retinitis pigmentosa 35


HPO:

32
cone-rod dystrophy 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 10

UniProtKB/Swiss-Prot : 75 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 rod-cone dystrophy 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
loss of visual acuity, progressive
loss of color vision, progressive
night blindness
loss of peripheral vision
photophobia, severe
more

Clinical features from OMIM:

610283

Human phenotypes related to Cone-Rod Dystrophy 10:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 progressive visual loss 32 HP:0000529
3 cone/cone-rod dystrophy 32 HP:0000548
4 macular degeneration 32 HP:0000608
5 photophobia 32 HP:0000613
6 nyctalopia 32 HP:0000662
7 abnormality of skin pigmentation 32 HP:0001000
8 peripheral visual field loss 32 HP:0007994
9 epiphora 32 HP:0009926

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:

41
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:

75
# 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

Sources for Cone-Rod Dystrophy 10

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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