MCID: ISL096
MIFTS: 28

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 59
Congenital Cervical Vertebral Fusion 59
Congenital Fused Cervical Segments 59
Klippel-Feil Malformation 59
Klippel-Feil Sequence 59

Characteristics:

Orphanet epidemiological data:

59
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:



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 MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include heart and bone, and related phenotypes are cleft palate and facial asymmetry

Related Diseases for Isolated Klippel-Feil Syndrome

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

# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 30.1 GDF3 GDF6 MEOX1
2 klippel-feil syndrome 1, autosomal dominant 11.3
3 cervicitis 9.9
4 microphthalmia, isolated, with coloboma 6 9.4 GDF3 GDF6
5 colobomatous microphthalmia 9.3 GDF3 GDF6
6 coloboma of macula 9.2 GDF3 GDF6
7 microphthalmia 9.0 GDF3 GDF6

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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
5 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
6 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
7 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
8 abnormality of the cranial nerves 59 32 occasional (7.5%) Occasional (29-5%) HP:0001291
9 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
11 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
12 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
13 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
14 abnormality of the shoulder 59 32 frequent (33%) Frequent (79-30%) HP:0003043
15 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
16 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
17 cervical c2/c3 vertebral fusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0004602
18 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
19 abnormal vertebral segmentation and fusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005640
20 congenital muscular torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0005988
21 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
22 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
23 abnormality of the vertebral column 59 Very frequent (99-80%)
24 malformation of the heart and great vessels 59 Occasional (29-5%)

Drugs & Therapeutics for Isolated Klippel-Feil Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

41
Heart, Bone

Publications for Isolated Klippel-Feil Syndrome

Articles related to Isolated Klippel-Feil Syndrome:

# Title Authors Year
1
2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. ( 18475245 )
2008

Variations for Isolated Klippel-Feil Syndrome

ClinVar genetic disease variations for Isolated Klippel-Feil Syndrome:

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
2 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
3 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
4 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
5 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh38 Chromosome 8, 96144283: 96144283
6 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh37 Chromosome 8, 97154621: 97154621
7 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh38 Chromosome 8, 96142393: 96142393
8 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh37 Chromosome 8, 97156024: 97156024
9 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh38 Chromosome 8, 96143796: 96143796
10 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh37 Chromosome 8, 97156214: 97156214
11 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh38 Chromosome 8, 96143986: 96143986
12 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh37 Chromosome 8, 97156411: 97156411
13 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh38 Chromosome 8, 96144183: 96144183
14 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh37 Chromosome 8, 97156511: 97156511
15 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh38 Chromosome 8, 96144287: 96144287
16 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh37 Chromosome 8, 97156515: 97156515
17 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh37 Chromosome 8, 97156516: 97156523
18 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh38 Chromosome 8, 96144288: 96144295
19 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh38 Chromosome 8, 96144627: 96144627
20 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh37 Chromosome 8, 97156523: 97156523
21 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh38 Chromosome 8, 96144295: 96144295
22 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh38 Chromosome 8, 96144314: 96144314
23 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh37 Chromosome 8, 97156542: 97156542
24 GDF6 NM_001001557.3(GDF6): c.*172A> G single nucleotide variant Likely benign rs115207215 GRCh37 Chromosome 8, 97156619: 97156619
25 GDF6 NM_001001557.3(GDF6): c.*172A> G single nucleotide variant Likely benign rs115207215 GRCh38 Chromosome 8, 96144391: 96144391
26 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh37 Chromosome 8, 97156855: 97156855
27 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh37 Chromosome 8, 97154790: 97154790
28 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh38 Chromosome 8, 96142562: 96142562
29 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh37 Chromosome 8, 97155361: 97155362
30 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh38 Chromosome 8, 96143133: 96143134
31 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh38 Chromosome 8, 96143473: 96143473
32 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh37 Chromosome 8, 97155701: 97155701
33 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh37 Chromosome 8, 97155707: 97155707
34 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh38 Chromosome 8, 96143479: 96143479
35 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh37 Chromosome 8, 97155949: 97155949
36 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh38 Chromosome 8, 96143721: 96143721
37 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh37 Chromosome 8, 97156010: 97156010
38 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh38 Chromosome 8, 96143782: 96143782
39 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh37 Chromosome 8, 97156470: 97156471
40 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh38 Chromosome 8, 96144242: 96144243
41 GDF6 NM_001001557.3(GDF6): c.*272_*278delTCTCTCT deletion Uncertain significance rs886063203 GRCh38 Chromosome 8, 96144285: 96144291
42 GDF6 NM_001001557.3(GDF6): c.*272_*278delTCTCTCT deletion Uncertain significance rs886063203 GRCh37 Chromosome 8, 97156513: 97156519
43 GDF6 NM_001001557.3(GDF6): c.*28G> A single nucleotide variant Likely benign rs367847329 GRCh37 Chromosome 8, 97156763: 97156763
44 GDF6 NM_001001557.3(GDF6): c.*28G> A single nucleotide variant Likely benign rs367847329 GRCh38 Chromosome 8, 96144535: 96144535
45 GDF6 NM_001001557.3(GDF6): c.870C> T (p.Phe290=) single nucleotide variant Uncertain significance rs765928590 GRCh37 Chromosome 8, 97157289: 97157289
46 GDF6 NM_001001557.3(GDF6): c.870C> T (p.Phe290=) single nucleotide variant Uncertain significance rs765928590 GRCh38 Chromosome 8, 96145061: 96145061
47 GDF6 NM_001001557.3(GDF6): c.852C> G (p.Ser284=) single nucleotide variant Likely benign rs74498875 GRCh37 Chromosome 8, 97157307: 97157307
48 GDF6 NM_001001557.3(GDF6): c.852C> G (p.Ser284=) single nucleotide variant Likely benign rs74498875 GRCh38 Chromosome 8, 96145079: 96145079
49 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh37 Chromosome 8, 97157417: 97157417
50 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh38 Chromosome 8, 96145189: 96145189

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 9.54 GDF3 GDF6 MEOX1
2 regulation of signaling receptor activity GO:0010469 9.43 GDF3 GDF6
3 regulation of apoptotic process GO:0042981 9.4 GDF3 GDF6
4 BMP signaling pathway GO:0030509 9.32 GDF3 GDF6
5 SMAD protein signal transduction GO:0060395 9.26 GDF3 GDF6
6 cell development GO:0048468 9.16 GDF3 GDF6
7 regulation of MAPK cascade GO:0043408 8.96 GDF3 GDF6
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.62 GDF3 GDF6

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 9.16 GDF3 GDF6
2 growth factor activity GO:0008083 8.96 GDF3 GDF6
3 transforming growth factor beta receptor binding GO:0005160 8.62 GDF3 GDF6

Sources for Isolated Klippel-Feil Syndrome

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62 PubMed
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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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