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
..expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)

       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:10355
Name:SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
Definition:
Alternative IDs:
ParentIDs:MESH:D001259
TreeNumbers:C10.597.350.090/613672 |C23.888.592.350.090/613672
Synonyms:SPAX4
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: 613672
MeSH: 613672
OMIM: 613672;

Genes: MTPAP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003487Babinski sign
3 HP:0000750Delayed speech and language development
4 HP:0001260Dysarthria
5 HP:0000712Emotional labilityHP:0040283
6 HP:0001265Hyporeflexia
7 HP:0000639Nystagmus
8 HP:0000648Optic atrophy
9 HP:0003677Slowly progressive
10 HP:0002497Spastic ataxia
11 HP:0002313Spastic paraparesis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp)55149MTPAPPathogenic267606900RCV000000002; NMedGen:C3150925,OMIM:613672,ORPHA:254343103060285530602855NM_018109.3:c.1432A>GNP_060579.3:p.Asn478AspNC_000010.10:g.30602855T>COMIM Allelic Variant:613669.0001C3150925 613672 Ataxia, spastic, 4, autosomal recessive