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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

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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 10 (C566874)
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:

10492

Name:

Spinocerebellar Ataxia 10

Definition:

Alternative IDs:

OMIM:603516

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C566874 |C10.228.140.252.700.700/C566874 |C10.228.854.787.875/C566874 |C10.574.500.825.700/C566874 |C10.597.350.090.500.530/C566874 |C16.320.400.780.875/C566874

Synonyms:

Sca10

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C566874
MeSH: C566874
OMIM: 603516;

Genes: ATXN10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007256	Abnormal pyramidal sign
3	HP:0002071	Abnormality of extrapyramidal motor function
4	HP:0001272	Cerebellar atrophy
5	HP:0000762	Decreased nerve conduction velocity
6	HP:0000726	Dementia
7	HP:0000716	Depression
8	HP:0001260	Dysarthria
9	HP:0002075	Dysdiadochokinesis
10	HP:0001310	Dysmetria
11	HP:0002015	Dysphagia
12	HP:0002066	Gait ataxia
13	HP:0003743	Genetic anticipation
14	HP:0001347	Hyperreflexia
15	HP:0003829	Incomplete penetrance
16	HP:0002311	Incoordination
17	HP:0002070	Limb ataxia
18	HP:0002062	Morphological abnormality of the pyramidal tract
19	HP:0000639	Nystagmus
20	HP:0002073	Progressive cerebellar ataxia
21	HP:0002168	Scanning speech
22	HP:0001250	Seizure
23	HP:0000020	Urinary incontinence
24	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	OtherIDs	Disease_ClinVar
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(10_32)	25814	ATXN10	Benign;Pathogenic	-1	RCV000001054;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191244	NM_013236.3:c.1173+54822_1173+54826ATTCT(10_32)	OMIM Allelic Variant:611150.0001	C1963674 603516 Spinocerebellar ataxia 10
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)	25814	ATXN10	Pathogenic	-1	RCV000032260;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191244	NM_013236.3:c.1173+54822_1173+54826ATTCT(360_370)	-	C1963674 603516 Spinocerebellar ataxia 10
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)	25814	ATXN10	Pathogenic	-1	RCV000032261;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191244	NM_013236.3:c.1173+54822_1173+54826ATTCT(400_760)	-	C1963674 603516 Spinocerebellar ataxia 10
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)	25814	ATXN10	Pathogenic	-1	RCV000032262;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191244	NM_013236.3:c.1173+54822_1173+54826ATTCT(800_4500)	-	C1963674 603516 Spinocerebellar ataxia 10
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(850)	25814	ATXN10	Pathogenic	-1	RCV000032263;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191240	NM_013236.3:c.1173+54822_1173+54826ATTCT(850)	-	C1963674 603516 Spinocerebellar ataxia 10
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]	25814	ATXN10	Pathogenic	-1	RCV000032264;	N	MedGen:C1963674,OMIM:603516,ORPHA:98761	22	46191240	46191244	NM_013236.3:c.1173+54822_1173+54826ATTCT[280]	-	C1963674 603516 Spinocerebellar ataxia 10