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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Cone-Rod Dystrophy 3 (C565827)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2579

Name:

Cone-Rod Dystrophy 3

Definition:

Alternative IDs:

OMIM:604116

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C565827 |C11.768.585.658.500/C565827 |C16.320.290.684/C565827

Synonyms:

CORD3

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C565827
MeSH: C565827
OMIM: 604116;

Genes: ABCA4;

Phenotypes

1	HP:0000603	Central scotoma
2	HP:0000551	Color vision defect
3	HP:0000548	Cone/cone-rod dystrophy
4	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000350.2(ABCA4):c.6079C>T (p.Leu2027Phe)	24	ABCA4	Pathogenic	61751408	RCV000008332; RCV000008333; RCV000085785;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94471065	94471065	NM_000350.2:c.6079C>T	NP_000341.2:p.Leu2027Phe	NC_000001.10:g.94471065G>A	OMIM Allelic Variant:601691.0004	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.5882G>A (p.Gly1961Glu)	24	ABCA4	Likely pathogenic;Pathogenic;risk factor	1800553	RCV000008340; RCV000008341; RCV000008339; RCV000078670; RCV000197749;	N	; MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94473807	94473807	NM_000350.2:c.5882G>A	NP_000341.2:p.Gly1961Glu	NC_000001.10:g.94473807C>T	HGMD:CM970016,OMIM Allelic Variant:601691.0007	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.5882G>A (p.Gly1961Glu)	24	ABCA4	Likely pathogenic;Pathogenic;risk factor	1800553	RCV000008340; RCV000008341; RCV000008339; RCV000078670; RCV000197749;	N	; MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94473807	94473807	NM_000350.2:c.5882G>A	NP_000341.2:p.Gly1961Glu	NC_000001.10:g.94473807C>T	HGMD:CM970016,OMIM Allelic Variant:601691.0007	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.5819T>C (p.Leu1940Pro)	24	ABCA4	Pathogenic	61753033	RCV000008371; RCV000008372; RCV000008370; RCV000085762;	N	MedGen:C0271093,ORPHA:827,SNOMED CT:70099003; MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94474323	94474323	NM_000350.2:c.5819T>C	NP_000341.2:p.Leu1940Pro	NC_000001.10:g.94474323A>G	OMIM Allelic Variant:601691.0033	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1; C0271093 Stargardt's disease
NM_000350.2(ABCA4):c.5285C>A (p.Ala1762Asp)	24	ABCA4	Pathogenic	121909206	RCV000008368; RCV000008367;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116	1	94481322	94481322	NM_000350.2:c.5285C>A	NP_000341.2:p.Ala1762Asp	NC_000001.10:g.94481322G>T	OMIM Allelic Variant:601691.0031	C1858806 604116 Cone-rod dystrophy 3; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg)	24	ABCA4	Benign;Pathogenic	61750126	RCV000008361; RCV000085583; RCV000176456;	N	MedGen:C1858806,OMIM:604116; MedGen:CN169374; MedGen:CN221809	1	94505604	94505604	NM_000350.2:c.3602T>G	NP_000341.2:p.Leu1201Arg	NC_000001.10:g.94505604A>C	OMIM Allelic Variant:601691.0025	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; CN169374 not specified
NM_000350.2(ABCA4):c.3539_3554del16 (p.Ser1181Profs)	24	ABCA4	Pathogenic	387906388	RCV000008369;	N	MedGen:C1858806,OMIM:604116	1	94505652	94505667	NM_000350.2:c.3539_3554del16	NP_000341.2:p.Ser1181Profs	NC_000001.10:g.94505652_94505667del16	OMIM Allelic Variant:601691.0032	C1858806 604116 Cone-rod dystrophy 3
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val)	24	ABCA4	Pathogenic	61751374	RCV000008348; RCV000008350; RCV000085549; RCV000008358; RCV000008359;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94508969	94508969	NM_000350.2:c.3113C>T	NP_000341.2:p.Ala1038Val	NC_000001.10:g.94508969G>A	OMIM Allelic Variant:601691.0016,OMIM Allelic Variant:601691.0023	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val)	24	ABCA4	Pathogenic	61751374	RCV000008348; RCV000008350; RCV000085549; RCV000008358; RCV000008359;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94508969	94508969	NM_000350.2:c.3113C>T	NP_000341.2:p.Ala1038Val	NC_000001.10:g.94508969G>A	OMIM Allelic Variant:601691.0016,OMIM Allelic Variant:601691.0023	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.2888delG (p.Gly963Alafs)	24	ABCA4	Pathogenic	61752410	RCV000008363; RCV000085520;	N	MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94512505	94512505	NM_000350.2:c.2888delG	NP_000341.2:p.Gly963Alafs	NC_000001.10:g.94512505delC	OMIM Allelic Variant:601691.0027	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided
NM_000350.2(ABCA4):c.2616_2617delCT (p.Phe873Serfs)	24	ABCA4	Pathogenic	62642560	RCV000008360; RCV000085495;	N	MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94517225	94517226	NM_000350.2:c.2616_2617delCT	NP_000341.2:p.Phe873Serfs	NC_000001.10:g.94517225_94517226delAG	OMIM Allelic Variant:601691.0024	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided
NM_000350.2(ABCA4):c.2588G>C (p.Gly863Ala)	24	ABCA4	Pathogenic	76157638	RCV000008328; RCV000008329; RCV000085494; RCV000197749;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94517254	94517254	NM_000350.2:c.2588G>C	NP_000341.2:p.Gly863Ala	NC_000001.10:g.94517254C>G	OMIM Allelic Variant:601691.0001	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.2588G>C (p.Gly863Ala)	24	ABCA4	Pathogenic	76157638	RCV000008328; RCV000008329; RCV000085494; RCV000197749;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94517254	94517254	NM_000350.2:c.2588G>C	NP_000341.2:p.Gly863Ala	NC_000001.10:g.94517254C>G	OMIM Allelic Variant:601691.0001	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.1964T>G (p.Phe655Cys)	24	ABCA4	Likely pathogenic	200692438	RCV000194199;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116	1	94526289	94526289	NM_000350.2:c.1964T>G	NP_000341.2:p.Phe655Cys	NC_000001.10:g.94526289A>C	-	C1858806 604116 Cone-rod dystrophy 3; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro)	24	ABCA4	Pathogenic;Uncertain significance	61751392	RCV000008358; RCV000008359; RCV000085410;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94528806	94528806	NM_000350.2:c.1622T>C	NP_000341.2:p.Leu541Pro	NC_000001.10:g.94528806A>G	OMIM Allelic Variant:601691.0023	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro)	24	ABCA4	Pathogenic;Uncertain significance	61751392	RCV000008358; RCV000008359; RCV000085410;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94528806	94528806	NM_000350.2:c.1622T>C	NP_000341.2:p.Leu541Pro	NC_000001.10:g.94528806A>G	OMIM Allelic Variant:601691.0023	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.1222C>T (p.Arg408Ter)	24	ABCA4	Pathogenic	61748550	RCV000152707; RCV000152710; RCV000152708; RCV000152709; RCV000085378;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:C1866422,OMIM:601718; MedGen:C3495438,OMIM:153800; MedGen:CN221809	1	94544895	94544895	NM_000350.2:c.1222C>T	NP_000341.2:p.Arg408Ter	NC_000001.10:g.94544895G>A	HGMD:CM014809	C3495438 153800 Age-related macular degeneration 2; C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1866422 601718 Retinitis pigmentosa 19; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.880C>T (p.Gln294Ter)	24	ABCA4	Pathogenic	794727903	RCV000180146; RCV000180147;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116	1	94546253	94546253	NM_000350.2:c.880C>T	NP_000341.2:p.Gln294Ter	NC_000001.10:g.94546253G>A	-	C1858806 604116 Cone-rod dystrophy 3; C1855465 248200 Stargardt disease 1
NM_000350.2(ABCA4):c.763C>T (p.Arg255Cys)	24	ABCA4	Pathogenic	62645952	RCV000132594;	N	MedGen:C1858806,OMIM:604116	1	94564355	94564355	NM_000350.2:c.763C>T	NP_000341.2:p.Arg255Cys	NC_000001.10:g.94564355G>A,NC_000001.10:g.94564355G>C	-	C1858806 604116 Cone-rod dystrophy 3
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys)	24	ABCA4	Pathogenic	61750200	RCV000008355; RCV000179293; RCV000085812;	N	MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:CN221809	1	94564484	94564484	NM_000350.2:c.634C>T	NP_000341.2:p.Arg212Cys	NC_000001.10:g.94564484G>A	OMIM Allelic Variant:601691.0020	C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1855465 248200 Stargardt disease 1