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:
expandDeafness (D003638)
..Starting node
..expandDEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)

       Child Nodes:



 Sister Nodes: 
..expandAlbinism deafness syndrome (C537042)
..expandALPORT SYNDROME, X-LINKED (OMIM:301050)
..expandArthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..expandAyazi syndrome (C537793)
..expandBranchiogenic-Deafness Syndrome (C563780)
..expandBurn-Mckeown syndrome (C537411)
..expandCardioauditory syndrome of Sanchez Cascos (C535577)
..expandCharcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCoxoauricular Syndrome (C565148)
..expandDavenport Donlan syndrome (C535988)
..expandDeaf-Blind Disorders (D054062) Child26
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
..expandDEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
..expandDEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
..expandDEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..expandDEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..expandDEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandDeafness, congenital onychodystrophy, recessive form (C538204)
..expandDeafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Vitiligo and Achalasia (C565642)
..expandDEAFNESS, NONSYNDROMIC, MODIFIER 1 (OMIM:605429)
..expandDEAFNESS, Y-LINKED 1 (OMIM:400043)
..expandDementia, familial Danish (C538209)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandEmphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandFine-Lubinsky syndrome (C537933)
..expandFountain syndrome (C537270)
..expandHerrmann syndrome (C538113)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHyperlipoproteinemia, Type II, and Deafness (C564170)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJohnson neuroectodermal syndrome (C535882)
..expandJones syndrome (C535886)
..expandKeratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandLynch Lee Murday syndrome (C537713)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMeyenburg-Altherr-Uehlinger syndrome (C537574)
..expandMicrocephaly deafness syndrome (C537326)
..expandMUCKLE-WELLS SYNDROME (OMIM:191900)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandMyoclonus, Cerebellar Ataxia, and Deafness (C563549)
..expandNasodigitoacoustic syndrome (C538337)
..expandNathalie syndrome (C538342)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandNonsyndromic Deafness (C580334)
..expandOpticocochleodentate Degeneration (C563002)
..expandPERRAULT SYNDROME 3 (OMIM:614129)
..expandRamos Arroyo Clark syndrome (C535286)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRichards-Rundle syndrome (C535674)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSchlegelberger Grote syndrome (C536635)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSpastic paraplegia 24 (C536860)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTibia, Absence of, with Congenital Deafness (C564764)
..expandTietz syndrome (C536919)
..expandWells Jankovic syndrome (C536692)
..expandWright Dyck syndrome (C536749)
..expandX-linked mental retardation Gustavson type (C536759)
..expandYemenite deaf-blind hypopigmentation syndrome (C536771)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3093
Name:DEAFNESS, AUTOSOMAL RECESSIVE 89
Definition:
Alternative IDs:
ParentIDs:MESH:D003638
TreeNumbers:C09.218.458.341.186/613916 |C10.597.751.418.341.186/613916 |C23.888.592.763.393.341.186/613916
Synonyms:DFNB89
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 613916
MeSH: 613916
OMIM: 613916;

Genes: KARS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000365Hearing impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001130089.1(KARS):c.1129G>A (p.Asp377Asn)3735KARSPathogenic397514746RCV000054526; NMedGen:C3151351,OMIM:613916167566562475665624NM_001130089.1:c.1129G>ANP_001123561.1:p.Asp377AsnNC_000016.9:g.75665624C>TOMIM Allelic Variant:601421.0004C3151351 613916 Deafness, autosomal recessive 89
NM_001130089.1(KARS):c.517T>C (p.Tyr173His)3735KARSPathogenic397514745RCV000054525; NMedGen:C3151351,OMIM:613916167567040175670401NM_001130089.1:c.517T>CNP_001123561.1:p.Tyr173HisNC_000016.9:g.75670401A>GOMIM Allelic Variant:601421.0003C3151351 613916 Deafness, autosomal recessive 89