MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Retinal Cone Dystrophy 3A (C566483)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bardet-Biedl Syndrome (D020788) 13
..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 16 (OMIM:614500)
..CONE-ROD DYSTROPHY 18 (OMIM:615374)
..CONE-ROD DYSTROPHY 19 (OMIM:615860)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..CONE-ROD DYSTROPHY 20 (OMIM:615973)
..CONE-ROD DYSTROPHY 21 (OMIM:616502)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..CONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..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 L: 00143;
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Mainzer-Saldino Disease (C535463)
..Meckel syndrome type 1 (C536133)
..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 retinitis pigmentosa (C537396) L: 00168;
..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 22 (OMIM:602594)
..RETINITIS PIGMENTOSA 23 (OMIM:300424)
..RETINITIS PIGMENTOSA 24 (OMIM:300155)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..RETINITIS PIGMENTOSA 28 (OMIM:606068)
..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 38 (OMIM:613862)
..RETINITIS PIGMENTOSA 39 (OMIM:613809)
..Retinitis Pigmentosa 4 (C566706)
..RETINITIS PIGMENTOSA 40 (OMIM:613801)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..RETINITIS PIGMENTOSA 43 (OMIM:613810)
..RETINITIS PIGMENTOSA 44 (OMIM:613769)
..RETINITIS PIGMENTOSA 45 (OMIM:613767)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 47 (OMIM:613758)
..RETINITIS PIGMENTOSA 48 (OMIM:613827)
..RETINITIS PIGMENTOSA 49 (OMIM:613756)
..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 59 (OMIM:613861)
..Retinitis Pigmentosa 6 (C564065)
..RETINITIS PIGMENTOSA 60 (OMIM:613983)
..RETINITIS PIGMENTOSA 61 (OMIM:614180)
..RETINITIS PIGMENTOSA 62 (OMIM:614181)
..RETINITIS PIGMENTOSA 66 (OMIM:615233)
..RETINITIS PIGMENTOSA 67 (OMIM:615565)
..RETINITIS PIGMENTOSA 68 (OMIM:615725)
..RETINITIS PIGMENTOSA 69 (OMIM:615780)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..RETINITIS PIGMENTOSA 70 (OMIM:615922)
..RETINITIS PIGMENTOSA 71 (OMIM:616394)
..RETINITIS PIGMENTOSA 72 (OMIM:616469)
..RETINITIS PIGMENTOSA 73 (OMIM:616544)
..RETINITIS PIGMENTOSA 74 (OMIM:616562)
..RETINITIS PIGMENTOSA 75 (OMIM:617023)
..RETINITIS PIGMENTOSA 76 (OMIM:617123)
..RETINITIS PIGMENTOSA 77 (OMIM:617304)
..RETINITIS PIGMENTOSA 78 (OMIM:617433)
..RETINITIS PIGMENTOSA 79 (OMIM:617460)
..RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..Retinitis Pigmentosa 9 (C566716)
..RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..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 L: 00160;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10665

Name:

Retinal Cone Dystrophy 3A

Definition:

Alternative IDs:

OMIM:610024

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C566483 |C11.768.585.658.500/C566483 |C16.320.290.684/C566483

Synonyms:

ACHM6, INCLUDED |Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related |CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED |RCD3A

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566483
MeSH: C566483
OMIM: 610024;
MSeqDR :
Genes: PDE6H;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000548	Cone/cone-rod dystrophy
4	HP:0007641	Dyschromatopsia
5	HP:0000662	Nyctalopia
6	HP:0000639	Nystagmus	HP:0040283
7	HP:0000613	Photophobia
8	HP:0008020	Progressive cone degeneration
9	HP:0007663	Reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006205.3(PDE6H):c.-73C>A	5149	PDE6H	Benign	rs188351941	RCV001113860;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15125989	15125989	12:g.15125989C>A	-
NM_006205.3(PDE6H):c.-59G>C	5149	PDE6H	Benign	rs11056264	RCV000390631;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15126003	15126003	NC_000012.11:g.15126003G>C	ClinGen:CA10632291	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.-42C>T	5149	PDE6H	Uncertain significance	rs955172114	RCV001113861;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15126020	15126020	12:g.15126020C>T	-
NM_006205.3(PDE6H):c.-29G>C	5149	PDE6H	Likely benign	rs114575851	RCV000301976;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15130918	15130918	12:g.15130918G>C	ClinGen:CA6465822	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	5149	PDE6H	Conflicting interpretations of pathogenicity	rs200311463	RCV000030807\|RCV000055928\|RCV000779093\|RCV001092385;	N	MONDO:MONDO:0800197,MedGen:C3552227\|MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382\|\|MedGen:CN517202	12	15130981	15130981	12:g.15130981C>G	ClinGen:CA130125,OMIM:601190.0002	C3552227 Achromatopsia 6;
NM_006205.3(PDE6H):c.59G>A (p.Arg20His)	5149	PDE6H	Uncertain significance	rs775561506	RCV001113862\|RCV001371165;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382\|MedGen:CN517202	12	15131005	15131005	12:g.15131005G>A	-
NM_006205.3(PDE6H):c.195A>G (p.Pro65=)	5149	PDE6H	Benign	rs2230872	RCV000365089\|RCV001512347;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382\|MedGen:CN517202	12	15134353	15134353	12:g.15134353A>G	ClinGen:CA6465906	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser)	5149	PDE6H	Conflicting interpretations of pathogenicity	rs199740819	RCV001109846\|RCV001511055;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382\|MedGen:CN517202	12	15134390	15134390	12:g.15134390G>T	-
NM_006205.3(PDE6H):c.237G>C (p.Gln79His)	5149	PDE6H	Uncertain significance	rs564659543	RCV001420347\|RCV001882530;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382\|MedGen:CN517202	12	15134395	15134395	15134395	-
NM_006205.3(PDE6H):c.*47G>C	5149	PDE6H	Uncertain significance	rs886049108	RCV000395604;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134457	15134457	12:g.15134457G>C	ClinGen:CA10641460	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*71C>T	5149	PDE6H	Uncertain significance	rs144778897	RCV000306840;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134481	15134481	12:g.15134481C>T	ClinGen:CA10640565	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*77C>G	5149	PDE6H	Uncertain significance	rs886049109	RCV000370889;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134487	15134487	12:g.15134487C>G	ClinGen:CA10632293	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*134G>A	5149	PDE6H	Uncertain significance	rs886049110	RCV000276476;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134544	15134544	12:g.15134544G>A	ClinGen:CA10632297	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*301A>G	5149	PDE6H	Benign	rs77796036	RCV000331500;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134711	15134711	NC_000012.11:g.15134711A>G	ClinGen:CA10640572	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*319T>C	5149	PDE6H	Benign	rs3748304	RCV000367589;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134729	15134729	12:g.15134729T>C	ClinGen:CA10636916	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*358T>G	5149	PDE6H	Uncertain significance	rs558075003	RCV000263593;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134768	15134768	12:g.15134768T>G	ClinGen:CA10632299	C1865869 602093 Cone dystrophy 3;
NM_006205.3(PDE6H):c.*369A>G	5149	PDE6H	Uncertain significance	rs571862339	RCV000318780;	N	MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	12	15134779	15134779	12:g.15134779A>G	ClinGen:CA10636924	C1865869 602093 Cone dystrophy 3;
NM_001024630.4(RUNX2):c.*3160G>T	860	RUNX2	Benign	rs1200428	RCV000278936\|RCV001822858;	N	MONDO:MONDO:0007340,MedGen:C0008928,OMIM:119600, Orphanet:1452\|MONDO:MONDO:0012398,MedGen:C1864900,OMIM:610024, Orphanet:49382	6	45518202	45518202	NC_000006.11:g.45518202G>T	ClinGen:CA10626986,OMIM:601190.0001	C0008928 119600 Cleidocranial dysostosis;

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