MCID: ISL096
MIFTS: 30

Isolated Klippel-Feil Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Klippel-Feil Syndrome

MalaCards integrated aliases for Isolated Klippel-Feil Syndrome:

Name: Isolated Klippel-Feil Syndrome 58
Congenital Cervical Vertebral Fusion 58
Congenital Fused Cervical Segments 58
Klippel-Feil Malformation 58
Klippel-Feil Sequence 58

Characteristics:

Orphanet epidemiological data:

58
isolated klippel-feil syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Isolated Klippel-Feil Syndrome

MalaCards based summary : Isolated Klippel-Feil Syndrome, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Isolated Klippel-Feil Syndrome is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone and heart, and related phenotypes are short neck and webbed neck

Related Diseases for Isolated Klippel-Feil Syndrome

Diseases related to Isolated Klippel-Feil Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 31.2 MEOX1 GDF6 GDF3
2 klippel-feil syndrome 1, autosomal dominant 11.6
3 syringomyelia, noncommunicating isolated 10.2
4 fetal alcohol syndrome 10.2
5 alcohol-related birth defect 10.2
6 charcot-marie-tooth disease 10.2
7 tooth disease 10.2
8 syringomyelia 10.2
9 neurofibromatosis 10.2
10 frontonasal dysplasia 1 10.1
11 branchiootic syndrome 1 10.1
12 sleep apnea 10.1
13 kallmann syndrome 10.1
14 meningitis 10.1
15 mollaret meningitis 10.1
16 microphthalmia, isolated, with coloboma 6 9.5 GDF6 GDF3
17 microphthalmia 9.4 GDF6 GDF3
18 spina bifida occulta 9.4 GDF6 GDF3
19 colobomatous microphthalmia 9.3 GDF6 GDF3
20 coloboma of macula 9.2 GDF6 GDF3

Graphical network of the top 20 diseases related to Isolated Klippel-Feil Syndrome:



Diseases related to Isolated Klippel-Feil Syndrome

Symptoms & Phenotypes for Isolated Klippel-Feil Syndrome

Human phenotypes related to Isolated Klippel-Feil Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
3 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
4 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
5 abnormal vertebral segmentation and fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005640
6 cervical c2/c3 vertebral fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0004602
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
10 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
11 abnormality of the shoulder 58 31 frequent (33%) Frequent (79-30%) HP:0003043
12 congenital muscular torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0005988
13 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
15 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
17 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
18 abnormal cranial nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001291
19 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
21 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
22 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
23 malformation of the heart and great vessels 58 Occasional (29-5%)
24 abnormality of the vertebral column 58 Very frequent (99-80%)

Drugs & Therapeutics for Isolated Klippel-Feil Syndrome

Search Clinical Trials , NIH Clinical Center for Isolated Klippel-Feil Syndrome

Genetic Tests for Isolated Klippel-Feil Syndrome

Anatomical Context for Isolated Klippel-Feil Syndrome

MalaCards organs/tissues related to Isolated Klippel-Feil Syndrome:

40
Bone, Heart

Publications for Isolated Klippel-Feil Syndrome

Articles related to Isolated Klippel-Feil Syndrome:

(show all 15)
# Title Authors PMID Year
1
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 6
24073994 2013
2
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
3
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 6
23290072 2013
4
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 6
19864492 2010
5
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
6
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008
7
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301552 2004
8
Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature. 61
27275209 2015
9
Developmental anomalies of the scapula-the "omo"st forgotten bone. 61
12884444 2003
10
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? 61
7762597 1995
11
Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome. 61
8241656 1993
12
Klippel-Feil sequence and sleep-disordered breathing in two children. 61
8420417 1993
13
Cervical neurenteric fistula causing recurrent meningitis in Klippel-Feil sequence: case report and literature review. 61
1876469 1991
14
Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence? 61
2355722 1990
15
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. 61
6641005 1983

Variations for Isolated Klippel-Feil Syndrome

ClinVar genetic disease variations for Isolated Klippel-Feil Syndrome:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)duplication Likely pathogenic 634522 rs1569172839 22:26299683-26299684 22:25903716-25903717
2 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)SNV Conflicting interpretations of pathogenicity 8371 rs121909352 8:97157413-97157413 8:96145185-96145185
3 GDF6 NM_001001557.4(GDF6):c.*268_*275delinsCTTTindel Uncertain significance 364032 rs886063205 8:97156516-97156523 8:96144288-96144295
4 GDF6 NM_001001557.4(GDF6):c.*320_*321insCTTTinsertion Uncertain significance 364026 rs886063199 8:97156470-97156471 8:96144242-96144243
5 GDF6 NM_001001557.4(GDF6):c.*272_*278deldeletion Uncertain significance 364030 rs886063203 8:97156513-97156519 8:96144285-96144291
6 GDF6 NM_001001557.4(GDF6):c.*321_*322deldeletion Uncertain significance 364025 rs886063198 8:97156469-97156470 8:96144241-96144242
7 GDF6 NM_001001557.4(GDF6):c.*271_*272insCinsertion Uncertain significance 364033 rs1554571161 8:97156519-97156520 8:96144291-96144292
8 GDF6 NM_001001557.4(GDF6):c.*271_*272insCTCinsertion Uncertain significance 364034 rs1554571161 8:97156519-97156520 8:96144291-96144292
9 GDF6 NM_001001557.4(GDF6):c.*322_*323insTTinsertion Uncertain significance 364024 rs886063197 8:97156468-97156469 8:96144240-96144241
10 GDF6 NM_001001557.4(GDF6):c.*273_*274CT[20]short repeat Uncertain significance 364027 rs71275339 8:97156473-97156478 8:96144245-96144250
11 GDF6 NM_001001557.3(GDF6):c.*2243G>CSNV Likely benign 369618 rs142786788 8:97154548-97154548 8:96142320-96142320
12 GDF6 NM_001001557.4(GDF6):c.*1429_*1430deldeletion Likely benign 364012 rs139734303 8:97155361-97155362 8:96143133-96143134
13 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)SNV Likely benign 8373 rs121909353 8:97156888-97156888 8:96144660-96144660
14 MYO18B NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp)SNV Likely benign 587504 rs1568989210 22:26164619-26164619 22:25768652-25768652

Expression for Isolated Klippel-Feil Syndrome

Search GEO for disease gene expression data for Isolated Klippel-Feil Syndrome.

Pathways for Isolated Klippel-Feil Syndrome

GO Terms for Isolated Klippel-Feil Syndrome

Biological processes related to Isolated Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.43 MEOX1 GDF6 GDF3
2 BMP signaling pathway GO:0030509 9.16 GDF6 GDF3
3 SMAD protein signal transduction GO:0060395 8.96 GDF6 GDF3
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.62 GDF6 GDF3

Molecular functions related to Isolated Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.96 GDF6 GDF3
2 growth factor activity GO:0008083 8.62 GDF6 GDF3

Sources for Isolated Klippel-Feil Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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