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:
expandAtaxia (D001259)
..Starting node
..expandAtaxia, Sensory, Autosomal Dominant (C563818)

       Child Nodes:



 Sister Nodes: 
..expandAbetalipoproteinemia neuropathy (C540309)
..expandArts syndrome (C535388)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia with Fasciculations (C566246)
..expandAtaxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
..expandAtaxia with vitamin E deficiency (C535393)
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
..expandAtaxia, Sensory, Autosomal Dominant (C563818)
..expandAtaxia, Spastic, with Congenital Miosis (C566247)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandBangstad syndrome (C537902)
..expandBehr syndrome (C537669)
..expandBhaskar Jagannathan syndrome (C535437)
..expandCANOMAD syndrome (C537980)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCataract ataxia deafness (C538283)
..expandCataracts, ataxia, short stature, and mental retardation (C535345)
..expandCerebellar Ataxia (D002524) Child70
..expandCerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandCOACH syndrome (C536430)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDiaminopentanuria (C565630)
..expandEpisodic Ataxia (C580065)
..expandEpisodic ataxia with nystagmus (C535506)
..expandEpisodic Ataxia, Type 1 (C563278)
..expandEpisodic Ataxia, Type 3 (C564697)
..expandEpisodic Ataxia, Type 4 (C564698)
..expandEpisodic Ataxia, Type 7 (C567459)
..expandErythrokeratodermia with ataxia (C535738)
..expandFragile X Tremor Ataxia Syndrome (C564105)
..expandGait Ataxia (D020234)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandJoubert Syndrome 7 (C566916)
..expandLeukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandMyokymia 1 (C567174)
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPeripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandReardon Wilson Cavanagh syndrome (C535295)
..expandRichards-Rundle syndrome (C535674)
..expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
..expandSpastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)
..expandTryptophanuria With Dwarfism (C562658)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:983
Name:Ataxia, Sensory, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:MESH:D001259
TreeNumbers:C10.597.350.090/C563818 |C23.888.592.350.090/C563818
Synonyms:
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C563818
MeSH: C563818
OMIM: 608984;

Genes: RNF170;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0001284Areflexia
4 HP:0003487Babinski sign
5 HP:0003409Distal sensory impairment of all modalities
6 HP:0006962Gait instability, worse in the dark
7 HP:0001265Hyporeflexia
8 HP:0002403Positive Romberg sign
9 HP:0010871Sensory ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001160224.1(RNF170):c.490G>A (p.Gly164Arg)81790RNF170Likely pathogenic797045006RCV000190504; NMedGen:C1837015,OMIM:60898484270604742706047NM_001160224.1:c.490G>ANP_001153696.1:p.Gly164ArgNC_000008.10:g.42706047C>T-C1837015 608984 Ataxia, sensory, autosomal dominant
NM_001160223.1(RNF170):c.640A>G (p.Ile214Val)81790RNF170Likely pathogenic587780441RCV000118187; NMedGen:C1837015,OMIM:60898484271143942711439NM_001160223.1:c.640A>GNP_001153695.1:p.Ile214ValNC_000008.10:g.42711439T>C-C1837015 608984 Ataxia, sensory, autosomal dominant
NM_001160223.1(RNF170):c.595C>T (p.Arg199Cys)81790RNF170Pathogenic397514478RCV000024296; NMedGen:C1837015,OMIM:60898484271148442711484NM_001160223.1:c.595C>TNP_001153695.1:p.Arg199CysNC_000008.10:g.42711484G>AOMIM Allelic Variant:614649.0001C1837015 608984 Ataxia, sensory, autosomal dominant