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:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)

       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:10125
Name:Sensorimotor neuropathy with ataxia, autosomal dominant
Definition:
Alternative IDs:OMIM:607458
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537197 |C10.228.854.787/C537197 |C10.574.500.825/C537197 |C16.320.400.780/C537197
Synonyms:SCA18 |SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT |SMNA |Spinocerebellar ataxia 18
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537197
MeSH: C537197
OMIM: 607458;

Genes: SCA18;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003674Onset
3 HP:0001284Areflexia
4 HP:0003487Babinski sign
5 HP:0001272Cerebellar atrophy
6 HP:0002075Dysdiadochokinesis
7 HP:0001310Dysmetria
8 HP:0001265Hyporeflexia
9 HP:0003690Limb muscle weakness
10 HP:0000639Nystagmus
11 HP:0001761Pes cavus
12 HP:0007240Progressive gait ataxia
13 HP:0003390Sensory axonal neuropathy
14 HP:0003202Skeletal muscle atrophy
15 HP:0001337Tremor
Disease Causing ClinVar Variants