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:
expandHearing Loss, Conductive (D006314)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMyopia (D009216)
..Starting node
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)

       Child Nodes:



 Sister Nodes: 
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandBlepharoptosis myopia ectopia lentis (C536236)
..expandBornholm Eye Disease (C564092)
..expandCohen syndrome (C536438)
..expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDonnai-Barrow syndrome (C536390)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGastrocutaneous syndrome (C535651)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandMASS syndrome (C536030)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyopia 1 (C564091)
..expandMyopia 10 (C563758)
..expandMyopia 11 (C566490)
..expandMyopia 12 (C566489)
..expandMyopia 13 (C564473)
..expandMyopia 14 (C565202)
..expandMyopia 15 (C567193)
..expandMyopia 16 (C567259)
..expandMyopia 18, Autosomal Recessive (C567606)
..expandMYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
..expandMyopia 2 (C563541)
..expandMYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
..expandMyopia 3 (C566397)
..expandMyopia 5 (C563922)
..expandMyopia 6 (C536105)
..expandMyopia 7 (C563761)
..expandMyopia 8 (C563760)
..expandMyopia 9 (C563759)
..expandMyopia, Degenerative (D047728)
..expandNight blindness skeletal anomalies unusual facies (C536121)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNoble Bass Sherman syndrome (C536124)
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandPolydactyly myopia syndrome (C536331)
..expandSinus Node Disease and Myopia (C566690)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3098
Name:Deafness, Cochlear, with Myopia and Intellectual Impairment
Definition:
Alternative IDs:
ParentIDs:MESH:D006314|MESH:D008607|MESH:D009216
TreeNumbers:C09.218.458.341.562/C565645 |C10.597.606.643/C565645 |C10.597.751.418.341.562/C565645 |C11.744.636/C565645 |C23.888.592.604.646/C565645 |C23.888.592.763.393.341.562/C565645 |F03.550.600/C565645
Synonyms:
Slim Mappings:Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C565645
MeSH: C565645
OMIM: 221200;

Genes: SLITRK6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000405Conductive hearing impairment
3 HP:0000790Hematuria
4 HP:0011003High myopia
5 HP:0001249Intellectual disability
6 HP:0000093Proteinuria
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_032229.2(SLITRK6):c.1240C>T (p.Gln414Ter)84189SLITRK6Pathogenic587777069RCV000074448; NMedGen:C1857342,OMIM:221200138636940486369404NM_032229.2:c.1240C>TNP_115605.2:p.Gln414TerNC_000013.10:g.86369404G>AOMIM Allelic Variant:609681.0001C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment
NM_032229.2(SLITRK6):c.890C>A (p.Ser297Ter)84189SLITRK6Pathogenic587777070RCV000074449; NMedGen:C1857342,OMIM:221200138636975486369754NM_032229.2:c.890C>ANP_115605.2:p.Ser297Ter13:g.86369754G>TOMIM Allelic Variant:609681.0002C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment
NM_032229.2(SLITRK6):c.541C>T (p.Arg181Ter)84189SLITRK6Pathogenic587777071RCV000074450; NMedGen:C1857342,OMIM:221200138637010386370103NM_032229.2:c.541C>TNP_115605.2:p.Arg181TerNC_000013.10:g.86370103G>AOMIM Allelic Variant:609681.0003C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment