MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Spinocerebellar Degenerations (D013132)
..Starting node
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Spinocerebellar ataxia 27 (C537204)

       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:11554
Name:Spinocerebellar ataxia 27
Definition:
Alternative IDs:OMIM:609307
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537204 |C10.228.854.787/C537204 |C10.574.500.825/C537204 |C16.320.400.780/C537204
Synonyms:Cerebellar ataxia, autosomal dominant, FGF14-related |SCA27
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537204
MeSH: C537204
OMIM: 609307;
MSeqDR LSDB:  
Genes: FGF14;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001272Cerebellar atrophyHP:0040284
3 HP:0000716Depressivity
NAMDC:  Depression
HP:0040284
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
HP:0040284
5 HP:0000641Dysmetric saccades
6 HP:0002066Gait ataxiaHP:0040284
7 HP:0000640Gaze-evoked nystagmusHP:0040284
8 HP:0002346Head tremor
9 HP:0001425Heterogeneous
10 HP:0007772Impaired smooth pursuit
11 HP:0002495Impaired vibratory sensationHP:0040284
12 HP:0001256Intellectual disability, mild
13 HP:0002070Limb ataxiaHP:0040284
14 HP:0002354Memory impairment
15 HP:0002310Orofacial dyskinesiaHP:0040284
16 HP:0001761Pes cavusHP:0040284
17 HP:0002174Postural tremorHP:0040284
18 HP:0003390Sensory axonal neuropathy
19 HP:0003677Slow progression
20 HP:0000486Strabismus
21 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004115.4(FGF14):c.*1948C>T2259FGF14Uncertain significancers2034928409RCV001109517; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373233102373233GA13:g.102373233G>A-
NM_004115.4(FGF14):c.*1918T>C2259FGF14Uncertain significancers2034930325RCV001109518; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373263102373263AG13:g.102373263A>G-
NM_004115.4(FGF14):c.*1772C>A2259FGF14Uncertain significancers761322568RCV001109519; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373409102373409GT13:g.102373409G>T-
NM_004115.4(FGF14):c.*1761G>C2259FGF14Uncertain significancers886049931RCV000389367; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373420102373420CGNC_000013.10:g.102373420C>GClinGen:CA10643624CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1741T>C2259FGF14Likely benignrs529644559RCV000292652; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373440102373440AGNC_000013.10:g.102373440A>GClinGen:CA10642688CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1618T>A2259FGF14Benignrs15608RCV000404703; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373563102373563ATNC_000013.10:g.102373563A>TClinGen:CA10642690CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1612G>T2259FGF14Benignrs1046197RCV000343974; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373569102373569CANC_000013.10:g.102373569C>AClinGen:CA10642693CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1296A>C2259FGF14Uncertain significancers540292614RCV001111808; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373885102373885TG13:g.102373885T>G-
NM_004115.4(FGF14):c.*1259C>T2259FGF14Likely benignrs535930764RCV000361142; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373922102373922GANC_000013.10:g.102373922G>AClinGen:CA10643634CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1251G>A2259FGF14Uncertain significancers2034988925RCV001111809; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373930102373930CT13:g.102373930C>T-
NM_004115.4(FGF14):c.*1199A>G2259FGF14Uncertain significancers372768269RCV001112277; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102373982102373982TC13:g.102373982T>C-
NM_004115.4(FGF14):c.*1118G>A2259FGF14Likely benignrs147404825RCV000302948; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374063102374063CTNC_000013.10:g.102374063C>TClinGen:CA10638868CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1072G>A2259FGF14Uncertain significancers886049932RCV000355486; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374109102374109CTNC_000013.10:g.102374109C>TClinGen:CA10638873CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1071C>T2259FGF14Uncertain significancers886049933RCV000263021; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374110102374110GANC_000013.10:g.102374110G>AClinGen:CA10638875CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*1063G>A2259FGF14Benignrs58555898RCV000372760; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374118102374118CTNC_000013.10:g.102374118C>TClinGen:CA10633778CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*993C>T2259FGF14Uncertain significancers752896423RCV000275885; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374188102374188GANC_000013.10:g.102374188G>AClinGen:CA10642698CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*974G>A2259FGF14Uncertain significancers886049934RCV000334076; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374207102374207CTNC_000013.10:g.102374207C>TClinGen:CA10633779CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*863G>C2259FGF14Uncertain significancers1211426419RCV001112278; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374318102374318CG13:g.102374318C>G-
NM_004115.4(FGF14):c.*783C>G2259FGF14Uncertain significancers886049935RCV000345843; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374398102374398GCNC_000013.10:g.102374398G>CClinGen:CA10638880CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*777C>A2259FGF14Uncertain significancers886049936RCV000392434; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374404102374404GTNC_000013.10:g.102374404G>TClinGen:CA10642704CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*744C>A2259FGF14Benignrs79379700RCV000306193; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374437102374437GTNC_000013.10:g.102374437G>TClinGen:CA10633784CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*699T>C2259FGF14Uncertain significancers2035036843RCV001113620; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374482102374482AG13:g.102374482A>G-
NM_004115.4(FGF14):c.*658T>G2259FGF14Uncertain significancers2035039616RCV001113621; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374523102374523AC13:g.102374523A>C-
NM_004115.4(FGF14):c.*567G>C2259FGF14Benignrs546536488RCV000340048; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374614102374614CGNC_000013.10:g.102374614C>GClinGen:CA10643636CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*554G>A2259FGF14Benignrs141793298RCV000405706; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374627102374627CTNC_000013.10:g.102374627C>TClinGen:CA10643637CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*553C>T2259FGF14Uncertain significancers150580343RCV001113622; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374628102374628GA13:g.102374628G>A-
NM_004115.4(FGF14):c.*535G>T2259FGF14Uncertain significancers897525331RCV001109609; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374646102374646CA13:g.102374646C>A-
NM_004115.4(FGF14):c.*471A>C2259FGF14Benignrs75498912RCV000300248; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374710102374710TGNC_000013.10:g.102374710T>GClinGen:CA10643642CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*414T>C2259FGF14Uncertain significancers557390242RCV000357338; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374767102374767AGNC_000013.10:g.102374767A>GClinGen:CA10642706CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*369A>G2259FGF14Uncertain significancers2035058657RCV001109610; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374812102374812TC13:g.102374812T>C-
NM_004115.4(FGF14):c.*361C>T2259FGF14Uncertain significancers1159330973RCV001109611; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102374820102374820GA13:g.102374820G>A-
NM_004115.4(FGF14):c.*176C>G2259FGF14Benignrs191705440RCV000299031; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375005102375005GCNC_000013.10:g.102375005G>CClinGen:CA10638882CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.*31G>A2259FGF14Benign/Likely benignrs149661933RCV000273523|RCV001785559; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:98764|MedGen:CN51720213102375150102375150CT13:g.102375150C>TClinGen:CA7037084CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.693G>A (p.Ala231=)2259FGF14Benign/Likely benignrs34397704RCV000625189|RCV001289431|RCV001797078; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:98764|MedGen:CN169374|MedGen:CN51720213102375232102375232CT13:g.102375232C>TClinGen:CA7037093C1836383 609307 Spinocerebellar ataxia 27;
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)2259FGF14Uncertain significancers886049938RCV000383222; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375261102375261CT13:g.102375261C>TClinGen:CA10643655CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)2259FGF14Uncertain significancers1432381387RCV001095647; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375273102375273CA13:g.102375273C>A-
NM_004115.4(FGF14):c.651G>A (p.Thr217=)2259FGF14Uncertain significancers151325645RCV000272190; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375274102375274CT13:g.102375274C>TClinGen:CA7037102CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.636T>C (p.His212=)2259FGF14Benign/Likely benignrs41281644RCV000517714|RCV000886230|RCV000625190; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375289102375289AGNC_000013.10:g.102375289A>GClinGen:CA7037106CN169374 not specified;
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln)2259FGF14Uncertain significancers760595879RCV000382074; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375305102375305CTNC_000013.10:g.102375305C>TClinGen:CA7037109CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.608-10C>T2259FGF14Benignrs574476283RCV000285253; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102375327102375327GANC_000013.10:g.102375327G>AClinGen:CA7037114CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)2259FGF14Pathogenicrs1555370787RCV000580889; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379040102379040TA13:g.102379040T>AClinGen:CA388711151,OMIM:601515.0003C1836383 609307 Spinocerebellar ataxia 27;
NM_004115.4(FGF14):c.487del (p.Arg163fs)2259FGF14Pathogenicrs587776685RCV000008585; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379082102379082CTC13:g.102379082_102379082delClinGen:CA254320,OMIM:601515.0002C1836383 609307 Spinocerebellar ataxia 27;
NM_004115.4(FGF14):c.481T>C (p.Leu161=)2259FGF14Benign/Likely benignrs77082831RCV000323952|RCV001289429|RCV000968269; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:98764|MedGen:CN169374|MedGen:CN51720213102379088102379088AGNC_000013.10:g.102379088A>GClinGen:CA7037149CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.477C>T (p.Ser159=)2259FGF14Uncertain significancers776794756RCV000376429; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379092102379092GANC_000013.10:g.102379092G>AClinGen:CA7037150CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.468C>T (p.Ile156=)2259FGF14Benignrs558694053RCV000973732|RCV001111905; NMedGen:CN517202|MONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379101102379101GA13:g.102379101G>A-
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)2259FGF14Pathogenicrs104894393RCV000008584; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379135102379135AG13:g.102379135A>GClinGen:CA254318,OMIM:601515.0001C1836383 609307 Spinocerebellar ataxia 27;
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)2259FGF14Uncertain significancers2035466147RCV001196455; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102379140102379140GT13:g.102379140G>T-
GRCh37/hg19 13q33.1(chr13:102521075-102568995)2259FGF14Pathogenic-1RCV001254158; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102521075102568995nana-1-
NM_004115.4(FGF14):c.384T>C (p.Asn128=)2259FGF14Likely benignrs41281646RCV000284188; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102521099102521099AGNC_000013.10:g.102521099A>GClinGen:CA7037183CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.261C>T (p.Pro87=)2259FGF14Likely benignrs757210660RCV001112361; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102527579102527579GA13:g.102527579G>A-
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)2259FGF14Benign/Likely benignrs141304687RCV000337012|RCV000897731|RCV001289426; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:98764|MedGen:CN517202|MedGen:CN16937413102568872102568872CANC_000013.10:g.102568872C>AClinGen:CA7037275,UniProtKB:Q92915#VAR_022735CN227858 Spinocerebellar Ataxia, Dominant;
NM_004115.4(FGF14):c.123C>T (p.Asn41=)2259FGF14Benign/Likely benignrs372705140RCV000518458|RCV000903613|RCV001112362; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102568873102568873GANC_000013.10:g.102568873G>AClinGen:CA7037276CN169374 not specified;
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)2259FGF14Uncertain significancers757752994RCV001196679; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102568925102568925GA13:g.102568925G>A-
Single allele-1MIR2681;FGF14Likely pathogenic-1RCV000677935; NMONDO:MONDO:0012247,MedGen:C1836383,OMIM:609307, Orphanet:9876413102398697102650571nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
MSeqDR Portal