MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Spinocerebellar Degenerations (D013132)
..Starting node
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Spinocerebellar ataxia 21 (C537200)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1  LSDB C:1
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15  LSDB C:1
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34  LSDB C:2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11549
Name:Spinocerebellar ataxia 21
Definition:
Alternative IDs:OMIM:607454
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537200 |C10.228.854.787/C537200 |C10.574.500.825/C537200 |C16.320.400.780/C537200
Synonyms:SCA21
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537200
MeSH: C537200
OMIM: 607454;
MSeqDR LSDB:  
Genes: TMEM240;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002071Abnormality of extrapyramidal motor function
3 HP:0000718Aggressive behavior
4 HP:0002304Akinesia
5 HP:0000741Apathy
6 HP:0001272Cerebellar atrophy
7 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
8 HP:0002396Cogwheel rigidity
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0010526Dysgraphia
11 HP:0002066Gait ataxia
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation
14 HP:0001265Hyporeflexia
15 HP:0100710Impulsivity
16 HP:0001249Intellectual disability
17 HP:0002070Limb ataxia
18 HP:0007792Microsaccadic pursuit
19 HP:0000639NystagmusHP:0040283
20 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
21 HP:0002174Postural tremor
22 HP:0002073Progressive cerebellar ataxia
NAMDC:  Ataxia cerebellar
23 HP:0002168Scanning speech
24 HP:0003677Slow progression
25 HP:0000514Slow saccadic eye movements
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_020680.3(SCYL1):c.937delG (p.Val313Cysfs)57410SCYL1Pathogenic864309664RCV000203252; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773116529818765298187OMIM Allelic Variant:607982.0001C1843891 607454 Spinocerebellar ataxia 21;
NM_020680.3(SCYL1):c.1230+1G>A57410SCYL1Pathogenic864309666RCV000203250; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773116530027765300277OMIM Allelic Variant:607982.0003C1843891 607454 Spinocerebellar ataxia 21;
NM_020680.3(SCYL1):c.1509_1510delTG (p.Ala504Profs)57410SCYL1Pathogenic864309665RCV000203253; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773116530354665303547OMIM Allelic Variant:607982.0002C1843891 607454 Spinocerebellar ataxia 21;
NM_020680.3(SCYL1):c.1636C>T (p.Gln546Ter)57410SCYL1Pathogenic864309667RCV000203251; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773116530379065303790OMIM Allelic Variant:607982.0004C1843891 607454 Spinocerebellar ataxia 21;
NM_001114748.1(TMEM240):c.511C>T (p.Arg171Trp)339453TMEM240Pathogenic606231455RCV000148348; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773114707501470750OMIM Allelic Variant:616101.0005,UniProtKB (protein):Q5SV17#VAR_071910C1843891 607454 Spinocerebellar ataxia 21;
NM_001114748.1(TMEM240):c.509C>T (p.Pro170Leu)339453TMEM240Pathogenic/Likely pathogenic606231451RCV000148344; RCV000322616; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773; MedGen:CN517202114707521470752OMIM Allelic Variant:616101.0001,UniProtKB (protein):Q5SV17#VAR_071909CN517202 not provided;
NM_001114748.1(TMEM240):c.489C>G (p.Tyr163Ter)339453TMEM240Pathogenic606231452RCV000148345; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773114707721470772OMIM Allelic Variant:616101.0002C1843891 607454 Spinocerebellar ataxia 21;
NM_001114748.1(TMEM240):c.346C>T (p.Arg116Cys)339453TMEM240Pathogenic606231453RCV000148346; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773114709961470996OMIM Allelic Variant:616101.0003,UniProtKB (protein):Q5SV17#VAR_071907C1843891 607454 Spinocerebellar ataxia 21;
NM_001114748.1(TMEM240):c.343G>A (p.Val115Met)339453TMEM240Pathogenic1045410944RCV000626226; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773114709991470999-C1843891 607454 Spinocerebellar ataxia 21;
NM_001114748.1(TMEM240):c.239C>T (p.Thr80Met)339453TMEM240Pathogenic606231454RCV000148347; NMedGen:C1843891,OMIM:607454, Orphanet:ORPHA98773114711031471103OMIM Allelic Variant:616101.0004,UniProtKB (protein):Q5SV17#VAR_071906C1843891 607454 Spinocerebellar ataxia 21;
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