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:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHearing Loss (D034381)
..Starting node
..expandCATSHL syndrome (C537975)

       Child Nodes:



 Sister Nodes: 
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandBehr syndrome (C537669)
..expandBranchial arch syndrome X-linked (C537102)
..expandCATSHL syndrome (C537975)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDeafness (D003638) Child108
..expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
..expandDeafness, Autosomal Dominant, Due To Mutation In Myo1a (C567266)
..expandDeafness, Autosomal Recessive 36, Without Vestibular Involvement (C567219)
..expandDeafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..expandDeafness, Unilateral, With Delayed Endolymphatic Hydrops (C567420)
..expandDeafness-Craniofacial Syndrome (C565118)
..expandHearing Loss, Bilateral (D006312) Child5
..expandHEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO (OMIM:613290)
..expandHearing Loss, Conductive (D006314) Child21
..expandHearing Loss, Functional (D006315)
..expandHearing Loss, High-Frequency (D006316)
..expandHearing Loss, Mixed Conductive-Sensorineural (D046089) Child3
..expandHearing Loss, Sensorineural (D006319) Child252
..expandHearing Loss, Sudden (D003639)
..expandHearing Loss, Unilateral (D046088) Child1
..expandIris dysplasia hypertelorism deafness (C535537)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrotia, Hearing Impairment, And Cleft Palate (C567359)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..expandOptic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..expandReardon Wilson Cavanagh syndrome (C535295)
..expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1877
Name:CATSHL syndrome
Definition:
Alternative IDs:OMIM:610474
ParentIDs:MESH:D001848|MESH:D006228|MESH:D034381
TreeNumbers:C05.116.099/C537975 |C05.390.408/C537975 |C05.660.585.988.425/C537975 |C09.218.458.341/C537975 |C10.597.751.418.341/C537975 |C16.131.621.585.425/C537975 |C23.888.592.763.393.341/C537975
Synonyms:Camptodactyly, tall stature, and hearing loss syndrome |CATSHL SYNDROME
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537975
MeSH: C537975
OMIM: 610474;

Genes: FGFR3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0001166Arachnodactyly
4 HP:0006417Broad femoral metaphyses
5 HP:0001836Camptodactyly of toe
6 HP:0001263Global developmental delay
7 HP:0000218High palateHP:0040283
8 HP:0004570Increased vertebral height
9 HP:0001249Intellectual disability
10 HP:0009473Joint contracture of the hand
11 HP:0000252Microcephaly
12 HP:0030431Osteochondroma
13 HP:0000767Pectus excavatum
14 HP:0002650Scoliosis
15 HP:0000407Sensorineural hearing impairment
16 HP:0000098Tall stature
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000142.4(FGFR3):c.1637C>A (p.Thr546Lys)2261FGFR3Pathogenic587777857RCV000144699; NMedGen:C1864852,OMIM:610474,ORPHA:85164418073881807388NM_000142.4:c.1637C>ANP_000133.1:p.Thr546Lys4:g.1807388C>AOMIM Allelic Variant:134934.0037C1864852 610474 Camptodactyly, tall stature, and hearing loss syndrome
NM_000142.4(FGFR3):c.1862G>A (p.Arg621His)2261FGFR3Pathogenic121913113RCV000017765; NMedGen:C1864852,OMIM:610474,ORPHA:85164418078031807803NM_000142.4:c.1862G>ANP_000133.1:p.Arg621HisNC_000004.11:g.1807803G>AOMIM Allelic Variant:134934.0029C1864852 610474 Camptodactyly, tall stature, and hearing loss syndrome