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:
expandCerebellar Ataxia (D002524)
Parent Node:
expandLeukoencephalopathies (D056784)
Parent Node:
expandSpastic Paraplegia, Hereditary (D015419)
..Starting node
..expandAtaxia, Spastic, 3, Autosomal Recessive (C566956)

       Child Nodes:



 Sister Nodes: 
..expandAmyotrophic Dystonic Paraplegia (C566292)
..expandArena syndrome (C537428)
..expandAtaxia, Spastic, 1, Autosomal Dominant (C566993)
..expandAtaxia, Spastic, 2, Autosomal Recessive (C566969)
..expandAtaxia, Spastic, 3, Autosomal Recessive (C566956)
..expandBahemuka Brown syndrome (C537797)
..expandCosteff optic atrophy syndrome (C535311)
..expandFitzsimmons Walson Mellor syndrome (C537937)
..expandFitzsimmons-Guilbert syndrome (C537938)
..expandFitzsimmons-McLachlan-Gilbert syndrome (C537058)
..expandHereditary spastic paralysis, infantile onset ascending (C537217)
..expandLeukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandMASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..expandMAST Syndrome (C565409)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandNakamura Osame syndrome (C538335)
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandSpastic diplegia infantile type (C537481)
..expandSpastic paraplegia 10, autosomal dominant (C537482)
..expandSpastic paraplegia 11, autosomal recessive (C537483)
..expandSpastic paraplegia 12, autosomal dominant (C537484)
..expandSpastic paraplegia 13, autosomal dominant (C537485)
..expandSpastic paraplegia 14, autosomal recessive (C537486)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSpastic paraplegia 16, X-linked (C536643)
..expandSpastic paraplegia 17 (C536644)
..expandSpastic Paraplegia 18, Autosomal Recessive (C567628)
..expandSpastic paraplegia 19, autosomal dominant (C536856)
..expandSpastic paraplegia 2, X-linked (C536857)
..expandSpastic paraplegia 20, autosomal recessive (C536858)
..expandSpastic paraplegia 23 (C536859)
..expandSpastic paraplegia 24 (C536860)
..expandSpastic paraplegia 25, autosomal recessive (C536861)
..expandSpastic paraplegia 26, autosomal recessive (C536862)
..expandSpastic Paraplegia 27, Autosomal Recessive (C563807)
..expandSpastic paraplegia 29, autosomal dominant (C536863)
..expandSpastic paraplegia 3, autosomal dominant (C536864)
..expandSpastic Paraplegia 31, Autosomal Dominant (C565210)
..expandSpastic Paraplegia 32, Autosomal Recessive (C566983)
..expandSpastic Paraplegia 33, Autosomal Dominant (C565214)
..expandSpastic Paraplegia 34, X-Linked (C567465)
..expandSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..expandSpastic Paraplegia 36, Autosomal Dominant (C567930)
..expandSpastic Paraplegia 37, Autosomal Dominant (C567931)
..expandSpastic Paraplegia 38, Autosomal Dominant (C567349)
..expandSpastic Paraplegia 39, Autosomal Recessive (C567433)
..expandSpastic paraplegia 4, autosomal dominant (C536865)
..expandSPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..expandSpastic Paraplegia 42, Autosomal Dominant (C567262)
..expandSpastic Paraplegia 44, Autosomal Recessive (C567707)
..expandSPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..expandSPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..expandSPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..expandSpastic Paraplegia 5a, Autosomal Recessive (C564811)
..expandSpastic paraplegia 6, autosomal dominant (C536866)
..expandSpastic Paraplegia 7, Autosomal Recessive (C564599)
..expandSpastic paraplegia 8, autosomal dominant (C536867)
..expandSpastic paraplegia 9, autosomal dominant (C536868)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandSpastic paraplegia epilepsy mental retardation (C536869)
..expandSpastic paraplegia neuropathy poikiloderma (C536870)
..expandSpastic Paraplegia Type 11 (C580453)
..expandSpastic Paraplegia Type 3a (C580455)
..expandSpastic Paraplegia Type 4 (C580456)
..expandSpastic paraplegia type 5A, recessive (C536871)
..expandSpastic paraplegia type 5B, recessive (C536872)
..expandSpastic Paraplegia Type 7 (C580457)
..expandSpastic Paraplegia Type 8 (C580458)
..expandSpastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..expandSpastic paraplegia with Kallmann syndrome (C536873)
..expandSpastic Paraplegia With Myoclonic Epilepsy (C564810)
..expandSpastic paraplegia with precocious puberty (C536874)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandSpastic Paraplegia-50, Autosomal Recessive (C567858)
..expandVolcke Soekarman syndrome (C537718)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:986
Name:Ataxia, Spastic, 3, Autosomal Recessive
Definition:
Alternative IDs:OMIM:611390
ParentIDs:MESH:D002524|MESH:D015419|MESH:D056784
TreeNumbers:C10.228.140.252.190/C566956 |C10.228.140.695/C566956 |C10.500.300.820/C566956 |C10.574.500.495.820/C566956 |C10.597.350.090.500/C566956 |C10.668.829.800.300.820/C566956 |C16.131.666.300.820/C566956 |C16.320.400.375.820/C566956 |C23.888.592.350.090.200/C566956
Synonyms:ARSAL |Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE |SPAX3
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C566956
MeSH: C566956
OMIM: 611390;

Genes: MARS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001272Cerebellar atrophy
3 HP:0002120Cerebral cortical atrophy
4 HP:0100543Cognitive impairment
5 HP:0001260DysarthriaHP:0040284
6 HP:0001310Dysmetria
7 HP:0001332Dystonia
8 HP:0002066Gait ataxia
9 HP:0000666Horizontal nystagmus
10 HP:0001347Hyperreflexia
11 HP:0002352LeukoencephalopathyHP:0040284
12 HP:0012712Mild hearing impairment
13 HP:0002650ScoliosisHP:0040284
14 HP:0002497Spastic ataxia
15 HP:0001257Spasticity
16 HP:0000012Urinary urgencyHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
DUP192935MARS2Pathogenic-1RCV000087060; NGene:100379201,MedGen:C1969645,OMIM:611390,ORPHA:3146032198570130198571911NM_138395.3:c.1_1782dup1782OMIM Allelic Variant:609728.0002C1969645 611390 Ataxia, spastic, 3, autosomal recessive
NM_138395.3(MARS2):c.682_949del268 (p.Gly228Profs)92935MARS2Pathogenic-1RCV000087059; NGene:100379201,MedGen:C1969645,OMIM:611390,ORPHA:3146032198570811198571078NM_138395.3:c.682_949del268NP_612404.1:p.Gly228ProfsOMIM Allelic Variant:609728.0001,dbVar:nssv3761590,dbVar:nsv1067907C1969645 611390 Ataxia, spastic, 3, autosomal recessive