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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

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 23 (C537201)
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:

10503

Name:

Spinocerebellar ataxia 23

Definition:

Alternative IDs:

OMIM:610245

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537201 |C10.228.854.787/C537201 |C10.574.500.825/C537201 |C16.320.400.780/C537201

Synonyms:

SCA23

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537201
MeSH: C537201
OMIM: 610245;

Genes: PDYN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001274	Agenesis of corpus callosum	HP:0040283
3	HP:0003487	Babinski sign
4	HP:0001272	Cerebellar atrophy
5	HP:0007305	CNS demyelination
6	HP:0001260	Dysarthria
7	HP:0001310	Dysmetria
8	HP:0002066	Gait ataxia
9	HP:0001347	Hyperreflexia
10	HP:0002166	Impaired vibration sensation in the lower limbs
11	HP:0002070	Limb ataxia
12	HP:0002529	Neuronal loss in central nervous system
13	HP:0007141	Sensorimotor neuropathy
14	HP:0000514	Slow saccadic eye movements
15	HP:0003677	Slowly progressive
16	HP:0001337	Tremor	HP:0040283

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_024411.4(PDYN):c.643C>T (p.Arg215Cys)	-1	-	Pathogenic	267606939	RCV000018095;	N	MedGen:C1853250,OMIM:610245,ORPHA:101108	20	1961091	1961091	NM_024411.4:c.643C>T	NP_077722.1:p.Arg215Cys	NC_000020.10:g.1961091G>A	OMIM Allelic Variant:131340.0002	C1853250 610245 Spinocerebellar ataxia 23
NM_024411.4(PDYN):c.634C>T (p.Arg212Trp)	-1	-	Pathogenic	201486601	RCV000018097;	N	MedGen:C1853250,OMIM:610245,ORPHA:101108	20	1961100	1961100	NM_024411.4:c.634C>T	NP_077722.1:p.Arg212Trp	NC_000020.10:g.1961100G>A	OMIM Allelic Variant:131340.0004	C1853250 610245 Spinocerebellar ataxia 23
NM_024411.4(PDYN):c.632T>C (p.Leu211Ser)	-1	-	Pathogenic	267606940	RCV000018096;	N	MedGen:C1853250,OMIM:610245,ORPHA:101108	20	1961102	1961102	NM_024411.4:c.632T>C	NP_077722.1:p.Leu211Ser	NC_000020.10:g.1961102A>G	OMIM Allelic Variant:131340.0003	C1853250 610245 Spinocerebellar ataxia 23
NM_024411.4(PDYN):c.414G>T (p.Arg138Ser)	-1	-	Pathogenic	267606941	RCV000018094;	N	MedGen:C1853250,OMIM:610245,ORPHA:101108	20	1961320	1961320	NM_024411.4:c.414G>T	NP_077722.1:p.Arg138Ser	NC_000020.10:g.1961320C>A	OMIM Allelic Variant:131340.0001	C1853250 610245 Spinocerebellar ataxia 23
NM_024411.4(PDYN):c.217A>G (p.Thr73Ala)	-1	-	Likely pathogenic	786205212	RCV000170442;	N	MedGen:C1853250,OMIM:610245,ORPHA:101108	20	1961517	1961517	NM_024411.4:c.217A>G	NP_077722.1:p.Thr73Ala	NC_000020.10:g.1961517T>C	-	C1853250 610245 Spinocerebellar ataxia 23