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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 Degenerations (D013132)
..Starting node ..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
Child Nodes:
Sister Nodes:
..Corneal cerebellar syndrome (C535472)
..Friedreich Ataxia (D005621) 6
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hereditary spinal ataxia (C531684)
..Infantile onset spinocerebellar ataxia (C535523) 1
..Mousa Al din Al Nassar syndrome (C536989)
..Myoclonic Cerebellar Dyssynergia (D002527) 1
..Olivopontocerebellar Atrophies (D009849) 15
..Posterior column ataxia (C536342)
..Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar ataxia 19 (C537198)
..Spinocerebellar ataxia 21 (C537200)
..Spinocerebellar ataxia 22 (C542540)
..Spinocerebellar ataxia 23 (C537201)
..Spinocerebellar ataxia 27 (C537204)
..Spinocerebellar ataxia 28 (C537205)
..Spinocerebellar Ataxia 29 (C537206)
..Spinocerebellar ataxia 8 (C537307)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..Spinocerebellar ataxia, autosomal recessive 3 (C537309)
..Spinocerebellar ataxia, autosomal recessive 4 (C537310)
..Spinocerebellar ataxia, autosomal recessive 5 (C537311)
..Spinocerebellar ataxia, autosomal recessive 6 (C537312)
..Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..Spinocerebellar ataxia, X-linked, 2 (C537314)
..Spinocerebellar ataxia, X-linked, 4 (C537316)
..Spinocerebellar Ataxias (D020754) 34
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10513

Name:

Spinocerebellar ataxia, autosomal recessive 1

Definition:

Alternative IDs:

OMIM:606002

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537308 |C10.228.854.787/C537308 |C10.574.500.825/C537308 |C16.320.400.780/C537308

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537308
MeSH: C537308
OMIM: 606002;

Genes: SETX;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007256	Abnormal pyramidal sign
3	HP:0001284	Areflexia	HP:0040284
4	HP:0001272	Cerebellar atrophy	HP:0040284
5	HP:0002072	Chorea	HP:0040284
6	HP:0000524	Conjunctival telangiectasia	HP:0040283
7	HP:0003431	Decreased motor nerve conduction velocity
8	HP:0003693	Distal amyotrophy	HP:0040284
9	HP:0002460	Distal muscle weakness	HP:0040284
10	HP:0001260	Dysarthria	HP:0040284
11	HP:0002015	Dysphagia	HP:0040284
12	HP:0001332	Dystonia	HP:0040284
13	HP:0006254	Elevated alpha-fetoprotein	HP:0040284
14	HP:0003236	Elevated circulating creatine kinase concentration
15	HP:0002066	Gait ataxia	HP:0040284
16	HP:0000640	Gaze-evoked nystagmus
17	HP:0002346	Head tremor	HP:0040284
18	HP:0001265	Hyporeflexia	HP:0040284
19	HP:0006937	Impaired distal tactile sensation	HP:0040284
20	HP:0006886	Impaired distal vibration sensation
21	HP:0010831	Impaired proprioception	HP:0040284
22	HP:0010702	Increased circulating antibody level
23	HP:0002070	Limb ataxia
24	HP:0000639	Nystagmus	HP:0040284
25	HP:0000657	Oculomotor apraxia	HP:0040284
26	HP:0003477	Peripheral axonal neuropathy	HP:0040284
27	HP:0001761	Pes cavus	HP:0040284
28	HP:0001271	Polyneuropathy
29	HP:0006879	Pontocerebellar atrophy
30	HP:0003676	Progressive
31	HP:0007240	Progressive gait ataxia
32	HP:0001152	Saccadic smooth pursuit
33	HP:0002650	Scoliosis	HP:0040284
34	HP:0000486	Strabismus	HP:0040284
35	HP:0001337	Tremor	HP:0040284
36	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_015046.5(SETX):c.7149_7151delTTGinsAT (p.Asp2383Glufs)	23064	SETX	Likely pathogenic	863224918	RCV000200211;	N	MedGen:C1853761,OMIM:606002	9	135147145	135147147	NM_015046.5:c.7149_7151delTTGinsAT	NP_055861.3:p.Asp2383Glufs	NC_000009.11:g.135147145_135147147delCAAinsAT	-	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu)	23064	SETX	Pathogenic	28940290	RCV000002376;	N	MedGen:C1853761,OMIM:606002	9	135156870	135156870	NM_015046.5:c.6638C>T	NP_055861.3:p.Pro2213Leu	NC_000009.11:g.135156870G>A	OMIM Allelic Variant:608465.0003	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.6106G>A (p.Gly2036Arg)	23064	SETX	Likely pathogenic	863224919	RCV000200211;	N	MedGen:C1853761,OMIM:606002	9	135171259	135171259	NM_015046.5:c.6106G>A	NP_055861.3:p.Gly2036Arg	NC_000009.11:g.135147145_135147147delCAAinsAT	-	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.6038T>G (p.Val2013Gly)	23064	SETX	Likely pathogenic	797045068	RCV000191127;	N	MedGen:C1853761,OMIM:606002	9	135171327	135171327	NM_015046.5:c.6038T>G	NP_055861.3:p.Val2013Gly	NC_000009.11:g.135171327A>C	-	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.5929C>T (p.Leu1977Phe)	23064	SETX	Pathogenic	121434380	RCV000002385;	N	MedGen:C1853761,OMIM:606002	9	135172294	135172294	NM_015046.5:c.5929C>T	NP_055861.3:p.Leu1977Phe	NC_000009.11:g.135172294G>A	OMIM Allelic Variant:608465.0012	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.5927T>G (p.Leu1976Arg)	23064	SETX	Pathogenic	121434379	RCV000002382;	N	MedGen:C1853761,OMIM:606002	9	135172296	135172296	NM_015046.5:c.5927T>G	NP_055861.3:p.Leu1976Arg	NC_000009.11:g.135172296A>C	OMIM Allelic Variant:608465.0009	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.5821_5830delGCAATAGAAA (p.Ala1941Leufs)	23064	SETX	Pathogenic	797045067	RCV000191126;	N	MedGen:C1853761,OMIM:606002	9	135172393	135172402	NM_015046.5:c.5821_5830delGCAATAGAAA	NP_055861.3:p.Ala1941Leufs	NC_000009.11:g.135172393_135172402delTTTCTATTGC	-	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.4087C>T (p.Arg1363Ter)	23064	SETX	Pathogenic	121434376	RCV000002374;	N	MedGen:C1853761,OMIM:606002	9	135202898	135202898	NM_015046.5:c.4087C>T	NP_055861.3:p.Arg1363Ter	NC_000009.11:g.135202898G>A	OMIM Allelic Variant:608465.0001	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.3880C>T (p.Arg1294Cys)	23064	SETX	Pathogenic	267607044	RCV000002384;	N	MedGen:C1853761,OMIM:606002	9	135203105	135203105	NM_015046.5:c.3880C>T	NP_055861.3:p.Arg1294Cys	NC_000009.11:g.135203105G>A	OMIM Allelic Variant:608465.0011	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.2967_2971delGAAAG (p.Arg989Serfs)	23064	SETX	Pathogenic	587776536	RCV000002377;	N	MedGen:C1853761,OMIM:606002	9	135204014	135204018	NM_015046.5:c.2967_2971delGAAAG	NP_055861.3:p.Arg989Serfs		OMIM Allelic Variant:608465.0004	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.2602C>T (p.Gln868Ter)	23064	SETX	Pathogenic	121434377	RCV000002375;	N	MedGen:C1853761,OMIM:606002	9	135204383	135204383	NM_015046.5:c.2602C>T	NP_055861.3:p.Gln868Ter	NC_000009.11:g.135204383G>A	OMIM Allelic Variant:608465.0002	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.1957C>A (p.Gln653Lys)	23064	SETX	Pathogenic	116333061	RCV000002383;	N	MedGen:C1853761,OMIM:606002	9	135205028	135205028	NM_015046.5:c.1957C>A	NP_055861.3:p.Gln653Lys	NC_000009.11:g.135205028G>T	OMIM Allelic Variant:608465.0010	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.1807A>G (p.Asn603Asp)	23064	SETX	Pathogenic	116205032	RCV000002383;	N	MedGen:C1853761,OMIM:606002	9	135205178	135205178	NM_015046.5:c.1807A>G	NP_055861.3:p.Asn603Asp	NC_000009.11:g.135205028G>T	OMIM Allelic Variant:608465.0010	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.1027G>T (p.Glu343Ter)	23064	SETX	Pathogenic	121434381	RCV000002386;	N	MedGen:C1853761,OMIM:606002	9	135206510	135206510	NM_015046.5:c.1027G>T	NP_055861.3:p.Glu343Ter	NC_000009.11:g.135206510C>A	OMIM Allelic Variant:608465.0013	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.994C>T (p.Arg332Trp)	23064	SETX	Pathogenic	29001665	RCV000002378;	N	MedGen:C1853761,OMIM:606002	9	135206680	135206680	NM_015046.5:c.994C>T	NP_055861.3:p.Arg332Trp	NC_000009.11:g.135206680G>A	OMIM Allelic Variant:608465.0005	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.822G>H	23064	SETX	Pathogenic	-1	RCV000002384;	N	MedGen:C1853761,OMIM:606002	9	135210011	135210011	NM_015046.5:c.822G>H	NP_055861.3:p.Met274Ile	NC_000009.11:g.135203105G>A	OMIM Allelic Variant:608465.0011	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1
NM_015046.5(SETX):c.343_345delCTT (p.Leu115del)	23064	SETX	Pathogenic	587776537	RCV000002387;	N	MedGen:C1853761,OMIM:606002	9	135221691	135221693	NM_015046.5:c.343_345delCTT	NP_055861.3:p.Leu115del		OMIM Allelic Variant:608465.0014	C1853761 606002 Spinocerebellar ataxia autosomal recessive 1