Disease browser and phenotype 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

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 Degenerations (D013132)
..Starting node ..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
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:

10514

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;

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
5	HP:0001260	Dysarthria
6	HP:0001310	Dysmetria
7	HP:0002066	Gait ataxia
8	HP:0001290	Generalized hypotonia
9	HP:0001263	Global developmental delay
10	HP:0001347	Hyperreflexia
11	HP:0001265	Hyporeflexia	HP:0040283
12	HP:0002311	Incoordination
13	HP:0001249	Intellectual disability
14	HP:0002070	Limb ataxia
15	HP:0003680	Nonprogressive
16	HP:0000639	Nystagmus	HP:0040283
17	HP:0001761	Pes cavus	HP:0040283
18	HP:0001152	Saccadic smooth pursuit
19	HP:0004322	Short stature	HP:0040283
20	HP:0001257	Spasticity
21	HP:0001337	Tremor
22	HP:0002317	Unsteady gait

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_015160.2(PMPCA):c.287C>T (p.Ser96Leu)	23203	PMPCA	Pathogenic	869025292	RCV000207255;	N	Gene:1165,MedGen:C1859298,OMIM:213200,ORPHA:1170	9	139306954	139306954	NM_015160.2:c.287C>T	NP_055975.1:p.Ser96Leu	NC_000009.11:g.139306954C>T	OMIM Allelic Variant:613036.0002	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2
NM_015160.2(PMPCA):c.766G>A (p.Val256Met)	23203	PMPCA	Pathogenic	746549806	RCV000207212;	N	Gene:1165,MedGen:C1859298,OMIM:213200,ORPHA:1170	9	139311535	139311535	NM_015160.2:c.766G>A	NP_055975.1:p.Val256Met	NC_000009.11:g.139311535G>A	OMIM Allelic Variant:613036.0004	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2
NM_015160.2(PMPCA):c.1129G>A (p.Ala377Thr)	23203	PMPCA	Pathogenic	753611141	RCV000207133; RCV000207168;	N	Gene:1165,MedGen:C1859298,OMIM:213200,ORPHA:1170; Human Phenotype Ontology:HP:0000618,Human Phenotype Ontology:HP:0007839,MedGen:C0456909; Human Phenotype Ontology:HP:0000648,Human Phenotype Ontology:HP:0007751,Human Phenotype Ontology:HP:0007855,MedGen:C	9	139313299	139313299	NM_015160.2:c.1129G>A	NP_055975.1:p.Ala377Thr		OMIM Allelic Variant:613036.0001	C0456909 Blindness; C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2
NM_015160.2(PMPCA):c.1543G>A (p.Gly515Arg)	23203	PMPCA	Pathogenic	869025293	RCV000207072;	N	Gene:1165,MedGen:C1859298,OMIM:213200,ORPHA:1170	9	139317681	139317681	NM_015160.2:c.1543G>A	NP_055975.1:p.Gly515Arg	NC_000009.11:g.139317681G>A	OMIM Allelic Variant:613036.0003	C1859298 213200 Spinocerebellar ataxia, autosomal recessive 2