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: Spinocerebellar Degenerations (D013132)
..Starting node ..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
Child Nodes:
Sister Nodes:
..Corneal cerebellar syndrome (C535472)
..Friedreich Ataxia (D005621) 6 C:1
..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 C:1
..LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..Mousa Al din Al Nassar syndrome (C536989)
..Myoclonic Cerebellar Dyssynergia (D002527) 1
..Olivopontocerebellar Atrophies (D009849) 15 C:1
..Posterior column ataxia (C536342)
..Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..Spinocerebellar ataxia 19 (C537198)
..Spinocerebellar ataxia 21 (C537200)
..Spinocerebellar ataxia 22 (C542540)
..Spinocerebellar ataxia 23 (C537201)
..Spinocerebellar ataxia 27 (C537204)
..Spinocerebellar Ataxia 29 (C537206)
..Spinocerebellar ataxia 8 (C537307)
..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 C:2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11562

Name:

Spinocerebellar Ataxia, Autosomal Recessive 2

Definition:

Alternative IDs:

OMIM:213200

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C565865 |C10.228.854.787/C565865 |C10.574.500.825/C565865 |C16.320.400.780/C565865

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C565865
MeSH: C565865
OMIM: 213200;
MSeqDR :
Genes: SCAR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001321	Cerebellar hypoplasia
4	HP:0000750	Delayed speech and language development NAMDC: Delayed language
5	HP:0001260	Dysarthria NAMDC: Dysarthria
6	HP:0001310	Dysmetria
7	HP:0002066	Gait ataxia
8	HP:0001290	Generalized hypotonia
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0001263	Global developmental delay NAMDC: Mental retardation
11	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
12	HP:0001265	Hyporeflexia	HP:0040283
13	HP:0002311	Incoordination
14	HP:0001249	Intellectual disability
15	HP:0002070	Limb ataxia
16	HP:0003680	Nonprogressive
17	HP:0000639	Nystagmus	HP:0040283
18	HP:0001761	Pes cavus	HP:0040283
19	HP:0001152	Saccadic smooth pursuit
20	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)	HP:0040283
21	HP:0001257	Spasticity NAMDC: Spasticity
22	HP:0001337	Tremor
23	HP:0002317	Unsteady gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)	23203	PMPCA	Pathogenic	1057519454	RCV000416418;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139305184	139305184	NC_000009.11:g.139305184C>T	ClinGen:CA16044226	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2;
NM_015160.3(PMPCA):c.71+3G>A	23203	PMPCA	Uncertain significance	-1	RCV003135052;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139305194	139305194	NC_000009.11:g.139305194G>A	-
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=)	23203	PMPCA	Benign	10870144	RCV001595182\|RCV001789425;	N	MedGen:C3661900\|MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139306467	139306467	139306467	-
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)	23203	PMPCA	Uncertain significance	-1	RCV002465462;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139306537	139306537	NC_000009.11:g.139306537C>T	-
NM_015160.3(PMPCA):c.258G>C (p.Gln86His)	23203	PMPCA	Uncertain significance	141305380	RCV001336252;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139306635	139306635	139306635	-
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)	23203	PMPCA	Pathogenic	869025292	RCV000207255;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139306954	139306954	9:g.139306954C>T	ClinGen:CA351561,UniProtKB:Q10713#VAR_076237,OMIM:613036.0002	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2;
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)	23203	PMPCA	Uncertain significance	192764146	RCV001328859;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139309052	139309052	139309052	-
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	23203	PMPCA	Pathogenic	573267388	RCV000416433;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139310764	139310764	NC_000009.11:g.139310764G>A	ClinGen:CA5336046	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2;
NM_015160.3(PMPCA):c.633+17G>A	23203	PMPCA	Benign/Likely benign	142661443	RCV002129662\|RCV002500018;	N	MedGen:C3661900\|MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139310860	139310860	139310860	-
NM_015160.3(PMPCA):c.634-266T>G	23203	PMPCA	Uncertain significance	755207442	RCV001663396;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139311137	139311137	139311137	-
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)	23203	PMPCA	Uncertain significance	-1	RCV003314361;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139311436	139311436		-
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	23203	PMPCA	Uncertain significance	746549806	RCV000207212\|RCV001266652;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170\|MeSH:D030342,MedGen:C0950123	9	139311535	139311535	NC_000009.11:g.139311535G>A	ClinGen:CA067680,UniProtKB:Q10713#VAR_076238,OMIM:613036.0004	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2;
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)	23203	PMPCA	Uncertain significance	758146224	RCV001328860;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139311572	139311572	139311572	-
NM_015160.3(PMPCA):c.897+6G>A	23203	PMPCA	Uncertain significance	150776126	RCV001336253\|RCV001815539\|RCV002547353;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	9	139311672	139311672	139311672	-
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)	23203	PMPCA	Uncertain significance	-1	RCV003130276;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139313115	139313115	NC_000009.11:g.139313115G>A	-
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	23203	PMPCA	Pathogenic	753611141	RCV000207133\|RCV000207168;	N	13 conditions\|MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139313299	139313299	NC_000009.11:g.139313299G>A	ClinGen:CA065006,UniProtKB:Q10713#VAR_076239,OMIM:613036.0001	C1865916 Bilateral ptosis;
NM_015160.3(PMPCA):c.1200+33G>A	23203	PMPCA	Benign	4604565	RCV001722685\|RCV001789553;	N	MedGen:C3661900\|MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139313403	139313403	139313403	-
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)	23203	PMPCA	Likely pathogenic	-1	RCV003314475;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139313499	139313499		-
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)	23203	PMPCA	Uncertain significance	769031961	RCV001336251;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139313500	139313500	139313500	-
NM_015160.3(PMPCA):c.1408+1G>A	23203	PMPCA	Pathogenic	753895120	RCV001663395;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139316429	139316429	139316429	-
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)	23203	PMPCA	Pathogenic	869025293	RCV000207072;	N	MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200, Orphanet:1170	9	139317681	139317681	9:g.139317681G>A	ClinGen:CA351513,UniProtKB:Q10713#VAR_076240,OMIM:613036.0003	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2;

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