Cone-Rod Dystrophy 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CORD10 MCID: CNR021 MIFTS: 27	Cone-Rod Dystrophy 10 (CORD10) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111017

OMIM ⁵⁶ 610283

OMIM Phenotypic Series ⁵⁶ PS120970

MeSH ⁴³ D058499

MedGen ⁴¹ C1846529

SNOMED-CT via HPO ⁶⁸ 193982009 246622003 258211005 more

UMLS ⁷¹ C1846529

Sources

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

Sources

Related Diseases for Cone-Rod Dystrophy 10

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1	Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6	Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3	Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13	Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11	Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9	Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16	Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18	Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20	Cone-Rod Dystrophy 21

Sources

Symptoms & Phenotypes for Cone-Rod Dystrophy 10

Human phenotypes related to Cone-Rod Dystrophy 10:

³¹ (show all 9)

#	Description	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

Sources

Drugs & Therapeutics for Cone-Rod Dystrophy 10

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

Sources

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

Sources

Anatomical Context for Cone-Rod Dystrophy 10

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

⁴⁰

Skin

Sources

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	Abid A...Khaliq S	16199541	2006
2	Cone rod dystrophies. ⁶	Hamel CP	17270046	2007
3	HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. ⁶	Kobayashi A...Inana G	11006213	2000
4	Clinical features of retinal diseases masquerading as retrobulbar optic neuritis. ⁶¹	Jiang LB...Wang NL	24033953	2013

Sources

Genes for Cone-Rod Dystrophy 10

Genes related to Cone-Rod Dystrophy 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SEMA4A	Semaphorin 4A	Protein Coding	1319.6	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16199541
2	ADAT3	Adenosine Deaminase TRNA Specific 3	Protein Coding	7	DISEASES inferred ¹⁵
3	SIM2	SIM BHLH Transcription Factor 2	Protein Coding	5.82	DISEASES inferred ¹⁵
4	ENPP3	Ectonucleotide Pyrophosphatase/Phosphodiesterase 3	Protein Coding	5.5	DISEASES inferred ¹⁵
5	PAGE3	PAGE Family Member 3	Protein Coding	5.17	DISEASES inferred ¹⁵
6	LACTB	Lactamase Beta	Protein Coding	5.06	DISEASES inferred ¹⁵

Sources

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>G	SNV	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>G	SNV	Conflicting interpretations of pathogenicity	875548		1:156146890-156146890	1:156177099-156177099
20	SEMA4A	NM_022367.4(SEMA4A):c.*334C>T	SNV	Conflicting interpretations of pathogenicity	876549		1:156147122-156147122	1:156177331-156177331
21	SEMA4A	NM_022367.4(SEMA4A):c.*188G>T	SNV	Conflicting interpretations of pathogenicity	292864	rs117762142	1:156146976-156146976	1:156177185-156177185
22	SEMA4A	NM_022367.4(SEMA4A):c.*366G>A	SNV	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>A	SNV	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>C	SNV	Uncertain significance	292866	rs886045369	1:156147159-156147159	1:156177368-156177368
27	SEMA4A	NM_022367.4(SEMA4A):c.-64A>G	SNV	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>T	SNV	Uncertain significance	292862	rs886045368	1:156146969-156146969	1:156177178-156177178
31	SEMA4A	NM_022367.4(SEMA4A):c.*570A>C	SNV	Uncertain significance	292868	rs886045370	1:156147358-156147358	1:156177567-156177567
32	SEMA4A	NM_022367.4(SEMA4A):c.*666C>A	SNV	Uncertain significance	292869	rs181676637	1:156147454-156147454	1:156177663-156177663
33	SEMA4A	NM_022367.4(SEMA4A):c.-165G>A	SNV	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>T	SNV	Uncertain significance	292861	rs886045367	1:156146967-156146967	1:156177176-156177176
38	SEMA4A	NM_022367.4(SEMA4A):c.*187G>A	SNV	Uncertain significance	292863	rs767596816	1:156146975-156146975	1:156177184-156177184
39	SEMA4A	NM_022367.4(SEMA4A):c.*711A>C	SNV	Uncertain significance	292870	rs886045371	1:156147499-156147499	1:156177708-156177708
40	SEMA4A	NM_022367.4(SEMA4A):c.*485G>A	SNV	Uncertain significance	873676		1:156147273-156147273	1:156177482-156177482
41	SEMA4A	NM_022367.4(SEMA4A):c.*522A>T	SNV	Uncertain significance	873677		1:156147310-156147310	1:156177519-156177519
42	SEMA4A	NM_022367.4(SEMA4A):c.*667C>T	SNV	Uncertain significance	874657		1:156147455-156147455	1:156177664-156177664
43	SEMA4A	NM_022367.4(SEMA4A):c.*687T>A	SNV	Uncertain significance	874658		1:156147475-156147475	1:156177684-156177684
44	SEMA4A	NM_022367.4(SEMA4A):c.*208A>G	SNV	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

Sources

Expression for Cone-Rod Dystrophy 10

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

Sources

Pathways for Cone-Rod Dystrophy 10

Sources

GO Terms for Cone-Rod Dystrophy 10

Sources

Sources for Cone-Rod Dystrophy 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cone-Rod Dystrophy 10 (CORD10)

Aliases & Classifications for Cone-Rod Dystrophy 10

MalaCards integrated aliases for Cone-Rod Dystrophy 10:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cone-Rod Dystrophy 10

Related Diseases for Cone-Rod Dystrophy 10

Diseases in the Cone-Rod Dystrophy 2 family:

Symptoms & Phenotypes for Cone-Rod Dystrophy 10

Human phenotypes related to Cone-Rod Dystrophy 10:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Cone-Rod Dystrophy 10

Genetic Tests for Cone-Rod Dystrophy 10

Genetic tests related to Cone-Rod Dystrophy 10:

Anatomical Context for Cone-Rod Dystrophy 10

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

Publications for Cone-Rod Dystrophy 10

Articles related to Cone-Rod Dystrophy 10:

Genes for Cone-Rod Dystrophy 10

Genes related to Cone-Rod Dystrophy 10 (1 elite genes):

Variations for Cone-Rod Dystrophy 10

ClinVar genetic disease variations for Cone-Rod Dystrophy 10:

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

Expression for Cone-Rod Dystrophy 10

Pathways for Cone-Rod Dystrophy 10

GO Terms for Cone-Rod Dystrophy 10

Sources for Cone-Rod Dystrophy 10