CORD10
MCID: CNR021
MIFTS: 27

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 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, is also known as cord10. An important gene associated with Cone-Rod Dystrophy 10 is SEMA4A (Semaphorin 4A). Affiliated tissues include skin, 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.

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 photophobia 31 HP:0000613
2 progressive visual loss 31 HP:0000529
3 abnormality of skin pigmentation 31 HP:0001000
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 macular degeneration 31 HP:0000608
7 cone/cone-rod dystrophy 31 HP:0000548
8 peripheral visual field loss 31 HP:0007994
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

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 10 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased interferon-beta reporter expression GR00307-A 8.62 PAGE3 SIM2

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
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. 6 56
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 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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
3 SEMA4A NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr)SNV Conflicting interpretations of pathogenicity 96033 rs146822426 1:156142783-156142783 1:156172992-156172992
4 SEMA4A NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)SNV Conflicting interpretations of pathogenicity 195371 rs149711133 1:156124453-156124453 1:156154662-156154662
5 SEMA4A NM_022367.4(SEMA4A):c.95G>T (p.Gly32Val)SNV Conflicting interpretations of pathogenicity 292844 rs577740555 1:156124464-156124464 1:156154673-156154673
6 SEMA4A NM_022367.4(SEMA4A):c.405T>C (p.Asn135=)SNV Conflicting interpretations of pathogenicity 292845 rs56271605 1:156128220-156128220 1:156158429-156158429
7 SEMA4A NM_022367.4(SEMA4A):c.492C>T (p.Ile164=)SNV Conflicting interpretations of pathogenicity 292846 rs562037528 1:156128539-156128539 1:156158748-156158748
8 SEMA4A NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=)SNV Conflicting interpretations of pathogenicity 292851 rs151260330 1:156142697-156142697 1:156172906-156172906
9 SEMA4A NM_022367.4(SEMA4A):c.1694-13C>GSNV Conflicting interpretations of pathogenicity 292853 rs144540956 1:156146183-156146183 1:156176392-156176392
10 SEMA4A NM_022367.4(SEMA4A):c.861G>T (p.Leu287=)SNV Conflicting interpretations of pathogenicity 728541 1:156131187-156131187 1:156161396-156161396
11 SEMA4A NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=)SNV Conflicting interpretations of pathogenicity 727396 1:156145407-156145407 1:156175616-156175616
12 SEMA4A NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val)SNV Conflicting interpretations of pathogenicity 746667 1:156146751-156146751 1:156176960-156176960
13 SEMA4A NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)SNV Conflicting interpretations of pathogenicity 806246 1:156127862-156127862 1:156158071-156158071
14 SEMA4A NM_022367.4(SEMA4A):c.712C>T (p.Pro238Ser)SNV Conflicting interpretations of pathogenicity 875440 1:156130722-156130722 1:156160931-156160931
15 SEMA4A NM_022367.4(SEMA4A):c.20G>A (p.Gly7Asp)SNV Conflicting interpretations of pathogenicity 767708 1:156124389-156124389 1:156154598-156154598
16 SEMA4A NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His)SNV Conflicting interpretations of pathogenicity 767709 1:156145436-156145436 1:156175645-156175645
17 SEMA4A NM_022367.4(SEMA4A):c.994G>A (p.Gly332Arg)SNV Conflicting interpretations of pathogenicity 876464 1:156132745-156132745 1:156162954-156162954
18 SEMA4A NM_022367.4(SEMA4A):c.1646G>A (p.Ser549Asn)SNV Conflicting interpretations of pathogenicity 874568 1:156145400-156145400 1:156175609-156175609
19 SEMA4A NM_022367.4(SEMA4A):c.*102C>GSNV Conflicting interpretations of pathogenicity 875548 1:156146890-156146890 1:156177099-156177099
20 SEMA4A NM_022367.4(SEMA4A):c.*334C>TSNV Conflicting interpretations of pathogenicity 876549 1:156147122-156147122 1:156177331-156177331
21 SEMA4A NM_022367.4(SEMA4A):c.*188G>TSNV Conflicting interpretations of pathogenicity 292864 rs117762142 1:156146976-156146976 1:156177185-156177185
22 SEMA4A NM_022367.4(SEMA4A):c.*366G>ASNV Conflicting interpretations of pathogenicity 292865 rs577699691 1:156147154-156147154 1:156177363-156177363
23 SEMA4A NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=)SNV Conflicting interpretations of pathogenicity 292858 rs41265019 1:156146689-156146689 1:156176898-156176898
24 SEMA4A NM_022367.4(SEMA4A):c.810+7G>ASNV Conflicting interpretations of pathogenicity 292848 rs568949451 1:156130827-156130827 1:156161036-156161036
25 SEMA4A NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)SNV Conflicting interpretations of pathogenicity 292849 rs145993678 1:156132837-156132837 1:156163046-156163046
26 SEMA4A NM_022367.4(SEMA4A):c.*371T>CSNV Uncertain significance 292866 rs886045369 1:156147159-156147159 1:156177368-156177368
27 SEMA4A NM_022367.4(SEMA4A):c.-64A>GSNV Uncertain significance 292842 rs753268297 1:156123521-156123521 1:156153730-156153730
28 SEMA4A NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)SNV Uncertain significance 292859 rs747089050 1:156146753-156146753 1:156176962-156176962
29 SEMA4A NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)SNV Uncertain significance 292843 rs373565051 1:156124459-156124459 1:156154668-156154668
30 SEMA4A NM_022367.4(SEMA4A):c.*181C>TSNV Uncertain significance 292862 rs886045368 1:156146969-156146969 1:156177178-156177178
31 SEMA4A NM_022367.4(SEMA4A):c.*570A>CSNV Uncertain significance 292868 rs886045370 1:156147358-156147358 1:156177567-156177567
32 SEMA4A NM_022367.4(SEMA4A):c.*666C>ASNV Uncertain significance 292869 rs181676637 1:156147454-156147454 1:156177663-156177663
33 SEMA4A NM_022367.4(SEMA4A):c.-165G>ASNV Uncertain significance 292841 rs113436119 1:156123420-156123420 1:156153629-156153629
34 SEMA4A NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu)SNV Uncertain significance 292847 rs201943133 1:156128541-156128541 1:156158750-156158750
35 SEMA4A NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val)SNV Uncertain significance 292852 rs886045366 1:156144634-156144634 1:156174843-156174843
36 SEMA4A NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser)SNV Uncertain significance 292856 rs199933282 1:156146669-156146669 1:156176878-156176878
37 SEMA4A NM_022367.4(SEMA4A):c.*179C>TSNV Uncertain significance 292861 rs886045367 1:156146967-156146967 1:156177176-156177176
38 SEMA4A NM_022367.4(SEMA4A):c.*187G>ASNV Uncertain significance 292863 rs767596816 1:156146975-156146975 1:156177184-156177184
39 SEMA4A NM_022367.4(SEMA4A):c.*711A>CSNV Uncertain significance 292870 rs886045371 1:156147499-156147499 1:156177708-156177708
40 SEMA4A NM_022367.4(SEMA4A):c.*485G>ASNV Uncertain significance 873676 1:156147273-156147273 1:156177482-156177482
41 SEMA4A NM_022367.4(SEMA4A):c.*522A>TSNV Uncertain significance 873677 1:156147310-156147310 1:156177519-156177519
42 SEMA4A NM_022367.4(SEMA4A):c.*667C>TSNV Uncertain significance 874657 1:156147455-156147455 1:156177664-156177664
43 SEMA4A NM_022367.4(SEMA4A):c.*687T>ASNV Uncertain significance 874658 1:156147475-156147475 1:156177684-156177684
44 SEMA4A NM_022367.4(SEMA4A):c.*208A>GSNV Uncertain significance 876548 1:156146996-156146996 1:156177205-156177205
45 SEMA4A NM_022367.4(SEMA4A):c.2114C>T (p.Ser705Phe)SNV Uncertain significance 876510 1:156146616-156146616 1:156176825-156176825
46 SEMA4A NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp)SNV Uncertain significance 873620 1:156146633-156146633 1:156176842-156176842
47 SEMA4A NM_022367.4(SEMA4A):c.1258G>A (p.Val420Met)SNV Uncertain significance 873570 1:156142740-156142740 1:156172949-156172949
48 SEMA4A NM_022367.4(SEMA4A):c.937G>T (p.Asp313Tyr)SNV Uncertain significance 875441 1:156131263-156131263 1:156161472-156161472
49 SEMA4A NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)SNV Uncertain significance 292854 rs772147085 1:156146608-156146608 1:156176817-156176817
50 SEMA4A NM_022367.4(SEMA4A):c.2134G>A (p.Ala712Thr)SNV Uncertain significance 292855 rs772819214 1:156146636-156146636 1:156176845-156176845

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

Sources for Cone-Rod Dystrophy 10

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