MCID: KLP012
MIFTS: 16

Klippel-Feil Syndrome 1

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome 1

MalaCards integrated aliases for Klippel-Feil Syndrome 1:

Name: Klippel-Feil Syndrome 1 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080589

Summaries for Klippel-Feil Syndrome 1

Disease Ontology : 12 A Klippel-Feil syndrome that has material basis in heterozygous mutation in the GDF6 gene on chromosome 8q22.

MalaCards based summary : Klippel-Feil Syndrome 1 is related to klippel-feil syndrome 1, autosomal dominant and parkinson disease 8, autosomal dominant. An important gene associated with Klippel-Feil Syndrome 1 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are Hippo signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone.

Related Diseases for Klippel-Feil Syndrome 1

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome 1:



Diseases related to Klippel-Feil Syndrome 1

Symptoms & Phenotypes for Klippel-Feil Syndrome 1

Drugs & Therapeutics for Klippel-Feil Syndrome 1

Search Clinical Trials , NIH Clinical Center for Klippel-Feil Syndrome 1

Genetic Tests for Klippel-Feil Syndrome 1

Anatomical Context for Klippel-Feil Syndrome 1

MalaCards organs/tissues related to Klippel-Feil Syndrome 1:

40
Bone

Publications for Klippel-Feil Syndrome 1

Variations for Klippel-Feil Syndrome 1

Expression for Klippel-Feil Syndrome 1

Search GEO for disease gene expression data for Klippel-Feil Syndrome 1.

Pathways for Klippel-Feil Syndrome 1

Pathways related to Klippel-Feil Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 GDF6 GDF5 BMPR1B
2 10.77 GDF6 GDF5 BMPR1B

GO Terms for Klippel-Feil Syndrome 1

Cellular components related to Klippel-Feil Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3M complex GO:1990393 8.62 OBSL1 CCDC8

Biological processes related to Klippel-Feil Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi organization GO:0007030 9.46 OBSL1 LRRK2
2 positive regulation of neuron differentiation GO:0045666 9.43 GDF6 GDF5
3 cartilage development GO:0051216 9.4 GDF5 BMPR1B
4 SMAD protein signal transduction GO:0060395 9.37 GDF6 GDF5
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 GDF6 GDF5
6 regulation of mitotic nuclear division GO:0007088 9.26 OBSL1 CCDC8
7 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.16 GDF5 BMPR1B
8 BMP signaling pathway GO:0030509 9.13 GDF6 GDF5 BMPR1B
9 positive regulation of chondrocyte differentiation GO:0032332 8.8 GDF6 GDF5 BMPR1B

Sources for Klippel-Feil Syndrome 1

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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