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:
expandKlippel-Feil Syndrome (D007714)
..Starting node
..expandKlippel Feil syndrome recessive type (C536888)

       Child Nodes:



 Sister Nodes: 
..expandCalabro syndrome (C537960)
..expandKlippel Feil syndrome dominant type (C536887) Child1
..expandKlippel Feil syndrome recessive type (C536888)
..expandSegmentation syndrome 1 (C537538)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6115
Name:Klippel Feil syndrome recessive type
Definition:
Alternative IDs:OMIM:214300
ParentIDs:MESH:D007714
TreeNumbers:C05.116.099.370.535/C536888 |C05.660.551/C536888 |C16.131.621.551/C536888
Synonyms:Cervical vertebral fusion, autosomal recessive |KFS2 |Kfs, Autosomal Recessive |KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE |Klippel-Feil Syndrome, Autosomal Recessive
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C536888
MeSH: C536888
OMIM: 214300;

Genes: MEOX1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000377Abnormality of the pinna
3 HP:0004602Cervical C2/C3 vertebral fusion
4 HP:0000175Cleft palate
5 HP:0000204Cleft upper lip
6 HP:0000405Conductive hearing impairment
7 HP:0002949Fused cervical vertebrae
8 HP:0000466Limited neck range of motion
9 HP:0002162Low posterior hairline
10 HP:0002650Scoliosis
11 HP:0000407Sensorineural hearing impairment
12 HP:0000470Short neck
13 HP:0000912Sprengel anomaly
14 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004527.3(MEOX1):c.250C>T (p.Gln84Ter)4222MEOX1Pathogenic713993044RCV000149546; NMedGen:C1859209,OMIM:214300174173865341738653NM_004527.3:c.250C>TNP_004518.1:p.Gln84TerNC_000017.10:g.41738653G>AOMIM Allelic Variant:600147.0003C1859209 214300 Klippel-Feil syndrome 2, autosomal recessive
NM_001009994.2(RIPPLY2):c.299delT (p.Leu100Argfs)134701RIPPLY2Likely pathogenic;Uncertain significance864309489RCV000202450; RCV000207167; NMedGen:C1859209,OMIM:214300; MedGen:CN22180968456702084567020NM_001009994.2:c.299delTNP_001009994.1:p.Leu100ArgfsOMIM Allelic Variant:609891.0003C1859209 214300 Klippel-Feil syndrome 2, autosomal recessive; CN221809 not provided