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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandSpinocerebellar ataxia 27 (C537204)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6
..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
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar ataxia 28 (C537205)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..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
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10506
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;

Genes: FGF14;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001272Cerebellar atrophyHP:0040284
3 HP:0000716DepressionHP:0040284
4 HP:0001260DysarthriaHP: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:0003677Slowly progressive
20 HP:0000486Strabismus
21 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_175929.2(FGF14):c.502delA (p.Arg168Aspfs)2259FGF14Pathogenic587776685RCV000008585; NMedGen:C1836383,OMIM:609307,ORPHA:9876413102379082102379082NM_175929.2:c.502delANP_787125.1:p.Arg168AspfsOMIM Allelic Variant:601515.0002C1836383 609307 Spinocerebellar ataxia 27
NM_175929.2(FGF14):c.449T>C (p.Phe150Ser)2259FGF14Pathogenic104894393RCV000008584; NMedGen:C1836383,OMIM:609307,ORPHA:9876413102379135102379135NM_175929.2:c.449T>CNP_787125.1:p.Phe150SerNC_000013.10:g.102379135A>GOMIM Allelic Variant:601515.0001C1836383 609307 Spinocerebellar ataxia 27