MCID: ISL096
MIFTS: 25

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 56
Congenital Cervical Vertebral Fusion 56
Congenital Fused Cervical Segments 56
Klippel-Feil Malformation 56
Klippel-Feil Sequence 56

Characteristics:

Orphanet epidemiological data:

56
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 leber congenital amaurosis 17, 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:

id Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 1, autosomal dominant 11.2
2 leber congenital amaurosis 17 9.6 GDF3 GDF6
3 itpa-related altered drug metabolism 9.5 GDF3 GDF6
4 partial optic atrophy 9.5 GDF3 GDF6
5 essential iris atrophy 9.4 GDF3 GDF6
6 malignant tumor of undescended testis 9.2 GDF3 GDF6
7 idiopathic hypersomnia without long sleep time 9.0 GDF3 GDF6 MEOX1
8 purulent acute otitis media 9.0 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:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 facial asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
4 webbed neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000465
5 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
6 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
7 sprengel anomaly 56 32 frequent (33%) Frequent (79-30%) HP:0000912
8 abnormality of the cranial nerves 56 32 occasional (7.5%) Occasional (29-5%) HP:0001291
9 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
11 low posterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0002162
12 spina bifida 56 32 occasional (7.5%) Occasional (29-5%) HP:0002414
13 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
14 abnormality of the shoulder 56 32 frequent (33%) Frequent (79-30%) HP:0003043
15 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
16 ectopic anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0004397
17 abnormality of the sacrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0005107
18 abnormal vertebral segmentation and fusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0005640
19 congenital muscular torticollis 56 32 frequent (33%) Frequent (79-30%) HP:0005988
20 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
21 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
22 abnormality of the vertebral column 56 Very frequent (99-80%)
23 malformation of the heart and great vessels 56 Occasional (29-5%)
24 cervical vertebral fusion (c2/c3) 56 Very frequent (99-80%)
25 cervical c2/c3 vertebral fusion 32 hallmark (90%) HP:0004602

Drugs & Therapeutics for Isolated Klippel-Feil Syndrome

Interventional clinical trials:


id 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:

39
Heart, Bone

Publications for Isolated Klippel-Feil Syndrome

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:

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.5 GDF3 GDF6 MEOX1
2 regulation of apoptotic process GO:0042981 9.37 GDF3 GDF6
3 SMAD protein signal transduction GO:0060395 9.26 GDF3 GDF6
4 cell development GO:0048468 9.16 GDF3 GDF6
5 regulation of MAPK cascade GO:0043408 8.96 GDF3 GDF6
6 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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