MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar Ataxia 17 (C564616)
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) L: 00036;
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 28 (C537205) L: 00498;
..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 1 (C537308)
..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,ClinVar, CTD

Term ID:

11546

Name:

Spinocerebellar Ataxia 17

Definition:

Alternative IDs:

OMIM:607136

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C564616 |C10.228.140.252.700.700/C564616 |C10.228.854.787.875/C564616 |C10.574.500.825.700/C564616 |C10.597.350.090.500.530/C564616 |C16.320.400.780.875/C564616

Synonyms:

HDL4 |Huntington Disease-Like 4 |SCA17

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C564616
MeSH: C564616
OMIM: 607136;
MSeqDR :
Genes: HOXD13; TBP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000718	Aggressive behavior
3	HP:0002186	Apraxia
4	HP:0002067	Bradykinesia
5	HP:0002136	Broad-based gait
6	HP:0001272	Cerebellar atrophy
7	HP:0002072	Chorea NAMDC: Chorea
8	HP:0001289	Confusion
9	HP:0000716	Depressivity NAMDC: Depression
10	HP:0002506	Diffuse cerebral atrophy
11	HP:0001260	Dysarthria NAMDC: Dysarthria
12	HP:0001310	Dysmetria
13	HP:0002015	Dysphagia NAMDC: Dysphagia
14	HP:0001332	Dystonia NAMDC: Dystonia
15	HP:0000727	Frontal lobe dementia
16	HP:0000743	Frontal release signs
17	HP:0002066	Gait ataxia
18	HP:0000640	Gaze-evoked nystagmus
19	HP:0002171	Gliosis
20	HP:0000738	Hallucinations
21	HP:0007668	Impaired pursuit initiation and maintenance
22	HP:0002080	Intention tremor
23	HP:0000757	Lack of insight
24	HP:0002070	Limb ataxia
25	HP:0002300	Mutism
26	HP:0001336	Myoclonus NAMDC: Myoclonus
27	HP:0002529	Neuronal loss in central nervous system
28	HP:0011999	Paranoia
29	HP:0001300	Parkinsonism NAMDC: Parkinsonism
30	HP:0002403	Positive Romberg sign
31	HP:0003676	Progressive
32	HP:0002063	Rigidity
33	HP:0001250	Seizures NAMDC: Seizures
34	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_003194.5(TBP):c.216_218del (p.Gln95del)	6908	TBP	Benign	rs71815788	RCV000625151\|RCV001683617\|RCV002298711;	N	MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136, Orphanet:98759\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C22	6	170871038	170871040	6:g.170871038_170871040del	ClinGen:CA4108293	C1846707 607136 Spinocerebellar ataxia 17;
NM_003194.5(TBP):c.216A>G (p.Gln72=)	6908	TBP	Benign/Likely benign	rs55736770	RCV000118598\|RCV000612827\|RCV001610426;	N	MedGen:CN169374\|MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136, Orphanet:98759\|MedGen:CN517202	6	170871040	170871040	6:g.170871040A>G	ClinGen:CA155651	CN169374 not specified;
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)	6908	TBP	Uncertain significance	rs1290125655	RCV000785107;	N	MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136, Orphanet:98759	6	170871045	170871046	6:g.170871045_170871046insGC	-
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)	6908	TBP	Uncertain significance	rs142540266	RCV001336551;	N	MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136, Orphanet:98759	6	170871234	170871234	170871234	-

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