MCID: ISL096
MIFTS: 29

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 55
Congenital Cervical Vertebral Fusion 55
Congenital Fused Cervical Segments 55
Klippel-Feil Malformation 55
Klippel-Feil Sequence 55

Characteristics:

Orphanet epidemiological data:

55
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 1, autosomal dominant and microphthalmia, isolated, with coloboma 6, and has symptoms including cleft palate, facial asymmetry and hearing impairment. An important gene associated with Isolated Klippel-Feil Syndrome is MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include heart and bone.

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 1, autosomal dominant 11.3
2 microphthalmia, isolated, with coloboma 6 9.6 GDF3 GDF6
3 colobomatous microphthalmia 9.6 GDF3 GDF6
4 coloboma of macula 9.5 GDF3 GDF6
5 microphthalmia 9.4 GDF3 GDF6
6 klippel-feil syndrome 9.2 GDF3 GDF6 MEOX1

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:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
2 facial asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
4 webbed neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000465
5 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
7 sprengel anomaly 55 31 frequent (33%) Frequent (79-30%) HP:0000912
8 abnormality of the cranial nerves 55 31 occasional (7.5%) Occasional (29-5%) HP:0001291
9 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
10 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
11 low posterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0002162
12 spina bifida 55 31 occasional (7.5%) Occasional (29-5%) HP:0002414
13 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
14 abnormality of the shoulder 55 31 frequent (33%) Frequent (79-30%) HP:0003043
15 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
16 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
17 cervical c2/c3 vertebral fusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0004602
18 abnormality of the sacrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0005107
19 abnormal vertebral segmentation and fusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0005640
20 congenital muscular torticollis 55 31 frequent (33%) Frequent (79-30%) HP:0005988
21 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
22 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
23 abnormality of the vertebral column 55 Very frequent (99-80%)
24 malformation of the heart and great vessels 55 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:

38
Heart, Bone

Publications for Isolated Klippel-Feil Syndrome

Articles related to Isolated Klippel-Feil Syndrome:

# Title Authors Year
1
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? ( 7762597 )
1995
2
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. ( 6641005 )
1983

Variations for Isolated Klippel-Feil Syndrome

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 9.5 GDF3 GDF6 MEOX1
2 regulation of receptor activity GO:0010469 9.4 GDF3 GDF6
3 regulation of apoptotic process GO:0042981 9.37 GDF3 GDF6
4 SMAD protein signal transduction GO:0060395 9.26 GDF3 GDF6
5 cell development GO:0048468 9.16 GDF3 GDF6
6 regulation of MAPK cascade GO:0043408 8.96 GDF3 GDF6
7 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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