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 isolated klippel-feil syndrome. 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).

Related Diseases for Klippel-Feil Syndrome 1

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant Klippel-Feil Syndrome 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

Diseases related to Klippel-Feil Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 1, autosomal dominant 32.8 LRRK2 GDF6
2 isolated klippel-feil syndrome 10.1 LRRK2 GDF6
3 parkinson disease 8, autosomal dominant 10.0 LRRK2 GDF6
4 hereditary late-onset parkinson disease 10.0 LRRK2 GDF6
5 leber congenital amaurosis 17 10.0 GDF6 GDF5
6 microphthalmia, isolated 4 10.0 GDF6 GDF5
7 brachydactyly, type a1, c 10.0 GDF6 GDF5
8 sugarman brachydactyly 9.9 GDF5 BMPR1B
9 bone deterioration disease 9.9 GDF6 GDF5
10 brachydactyly, type a1, b 9.9 GDF5 BMPR1B
11 acromesomelic dysplasia, hunter-thompson type 9.9 GDF5 BMPR1B
12 acromesomelic dysplasia 9.9 GDF5 BMPR1B
13 chondrodysplasia, grebe type 9.9 GDF5 BMPR1B
14 du pan syndrome 9.9 GDF5 BMPR1B
15 bone structure disease 9.8 GDF6 GDF5
16 brachydactyly, type c 9.8 GDF5 BMPR1B
17 klippel-feil syndrome 9.8 LRRK2 GDF6 GDF5
18 synostoses, tarsal, carpal, and digital 9.7 GDF6 GDF5 BMPR1B
19 proximal symphalangism 9.7 GDF6 GDF5 BMPR1B
20 brachydactyly, type a1 9.7 GDF6 GDF5 BMPR1B
21 multiple synostoses syndrome 9.7 GDF6 GDF5 BMPR1B
22 brachydactyly, type a2 9.7 GDF6 GDF5 BMPR1B
23 three m syndrome 1 9.7 OBSL1 CCDC8
24 silver-russell syndrome 1 9.6 OBSL1 CCDC8
25 chromosome 2q35 duplication syndrome 9.6 GDF5 BMPR1B
26 isolated growth hormone deficiency, type ia 9.6 OBSL1 CCDC8

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

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 9.43 OBSL1 LRRK2
2 cartilage development GO:0051216 9.4 GDF5 BMPR1B
3 SMAD protein signal transduction GO:0060395 9.37 GDF6 GDF5
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 GDF6 GDF5
5 regulation of mitotic nuclear division GO:0007088 9.26 OBSL1 CCDC8
6 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.16 GDF5 BMPR1B
7 BMP signaling pathway GO:0030509 9.13 GDF6 GDF5 BMPR1B
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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