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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: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10521

Name:

Spinocerebellar Ataxia, Autosomal Recessive 9

Definition:

Alternative IDs:

OMIM:612016

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C567436 |C10.228.140.252.700.700/C567436 |C10.228.854.787.875/C567436 |C10.574.500.825.700/C567436 |C10.597.350.090.500.530/C567436 |C16.320.400.780.875/C567436

Synonyms:

Cerebellar Ataxia, Autosomal Recessive, Type 2 |COENZYME Q10 DEFICIENCY, PRIMARY, 4 |COQ10D4 |SCAR9 |SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C567436
MeSH: C567436
OMIM: 612016;

Genes: ADCK3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007256	Abnormal pyramidal sign	HP:0040283
3	HP:0001251	Ataxia
4	HP:0001272	Cerebellar atrophy
5	HP:0003546	Exercise intolerance
6	HP:0001290	Generalized hypotonia
7	HP:0001263	Global developmental delay	HP:0040283
8	HP:0001347	Hyperreflexia
9	HP:0012240	Increased intramyocellular lipid droplets
10	HP:0001249	Intellectual disability	HP:0040283
11	HP:0003128	Lactic acidosis
12	HP:0001336	Myoclonus	HP:0040283
13	HP:0001761	Pes cavus
14	HP:0003701	Proximal muscle weakness
15	HP:0001250	Seizure	HP:0040282
16	HP:0001337	Tremor	HP:0040283
17	HP:0003828	Variable expressivity

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_020247.4(ADCK3):c.500_521del22insTTG (p.Gln167Leufs)	56997	ADCK3	Pathogenic	606231139	RCV000003827;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227153023	227153044	NM_020247.4:c.500_521del22insTTG	NP_064632.2:p.Gln167Leufs	NC_000001.10:g.227153023_227153044del22insTTG	OMIM Allelic Variant:606980.0007	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.637C>T (p.Arg213Trp)	56997	ADCK3	Pathogenic	119468005	RCV000003822;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227153420	227153420	NM_020247.4:c.637C>T	NP_064632.2:p.Arg213Trp	NC_000001.10:g.227153420C>T	OMIM Allelic Variant:606980.0002	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.815G>T (p.Gly272Val)	56997	ADCK3	Pathogenic	119468006	RCV000003823;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227169812	227169812	NM_020247.4:c.815G>T	NP_064632.2:p.Gly272Val	NC_000001.10:g.227169812G>A,NC_000001.10:g.227169812G>T	OMIM Allelic Variant:606980.0003	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.815G>A (p.Gly272Asp)	56997	ADCK3	Pathogenic	119468006	RCV000003824;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227169812	227169812	NM_020247.4:c.815G>A	NP_064632.2:p.Gly272Asp	NC_000001.10:g.227169812G>A,NC_000001.10:g.227169812G>T	OMIM Allelic Variant:606980.0004	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.993C>T (p.Phe331=)	56997	ADCK3	Benign;Pathogenic	41303129	RCV000003830; RCV000180351;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485; MedGen:CN169374	1	227170648	227170648	NM_020247.4:c.993C>T	NP_064632.2:p.Phe331=	NC_000001.10:g.227170648C>T	OMIM Allelic Variant:606980.0010	C2677589 612016 Coenzyme Q10 deficiency, primary, 4; CN169374 not specified
NM_020247.4(ADCK3):c.1042C>T (p.Arg348Ter)	56997	ADCK3	Pathogenic	771578775	RCV000201953;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227170697	227170697	NM_020247.4:c.1042C>T	NP_064632.2:p.Arg348Ter	NC_000001.10:g.227170697C>T	-	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1334_1335delCA (p.Thr445Argfs)	56997	ADCK3	Pathogenic	797045217	RCV000193346;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227171872	227171873	NM_020247.4:c.1334_1335delCA	NP_064632.2:p.Thr445Argfs	NC_000001.10:g.227171872_227171873delCA	-	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1398+2T>C	56997	ADCK3	Pathogenic	606231138	RCV000003826;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227171938	227171938	NM_020247.4:c.1398+2T>C		NC_000001.10:g.227171938T>C	OMIM Allelic Variant:606980.0006	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1532C>T (p.Thr511Met)	56997	ADCK3	Likely pathogenic	578189699	RCV000194388;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227172602	227172602	NM_020247.4:c.1532C>T	NP_064632.2:p.Thr511Met	NC_000001.10:g.227172602C>T	-	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1541A>G (p.Tyr514Cys)	56997	ADCK3	Pathogenic	119468008	RCV000003828;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227172611	227172611	NM_020247.4:c.1541A>G	NP_064632.2:p.Tyr514Cys	NC_000001.10:g.227172611A>G	OMIM Allelic Variant:606980.0008	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1645G>A (p.Gly549Ser)	56997	ADCK3	Pathogenic	119468009	RCV000003831;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227173027	227173027	NM_020247.4:c.1645G>A	NP_064632.2:p.Gly549Ser	NC_000001.10:g.227173027G>A	OMIM Allelic Variant:606980.0011	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1651G>A (p.Glu551Lys)	56997	ADCK3	Pathogenic	119468004	RCV000003821; RCV000201953;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227173033	227173033	NM_020247.4:c.1651G>A	NP_064632.2:p.Glu551Lys	NC_000001.10:g.227173033G>A	OMIM Allelic Variant:606980.0001	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1651G>A (p.Glu551Lys)	56997	ADCK3	Pathogenic	119468004	RCV000003821; RCV000201953;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227173033	227173033	NM_020247.4:c.1651G>A	NP_064632.2:p.Glu551Lys	NC_000001.10:g.227173033G>A	OMIM Allelic Variant:606980.0001	C2677589 612016 Coenzyme Q10 deficiency, primary, 4
NM_020247.4(ADCK3):c.1750_1752delACC (p.Thr584del)	56997	ADCK3	Pathogenic	387906299	RCV000003829; RCV000199676;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485; MedGen:CN221809	1	227174244	227174246	NM_020247.4:c.1750_1752delACC	NP_064632.2:p.Thr584del	NC_000001.10:g.227174244_227174246delACC	OMIM Allelic Variant:606980.0009	C2677589 612016 Coenzyme Q10 deficiency, primary, 4; CN221809 not provided
NM_020247.4(ADCK3):c.1813dupG (p.Glu605Glyfs)	56997	ADCK3	Pathogenic	387906298	RCV000003825;	N	MedGen:C2677589,OMIM:612016,ORPHA:139485	1	227174307	227174307	NM_020247.4:c.1813dupG	NP_064632.2:p.Glu605Glyfs	NC_000001.10:g.227174307dupG	OMIM Allelic Variant:606980.0005	C2677589 612016 Coenzyme Q10 deficiency, primary, 4