Klippel-Feil Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Klippel-Feil Syndrome 1

MalaCards integrated aliases for Klippel-Feil Syndrome 1:

Name: Klippel-Feil Syndrome 1 ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080589

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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).

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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:

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Symptoms & Phenotypes for Klippel-Feil Syndrome 1

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Drugs & Therapeutics for Klippel-Feil Syndrome 1

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

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Genetic Tests for Klippel-Feil Syndrome 1

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Anatomical Context for Klippel-Feil Syndrome 1

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Publications for Klippel-Feil Syndrome 1

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Genes for Klippel-Feil Syndrome 1

Genes related to Klippel-Feil Syndrome 1 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GDF6	Growth Differentiation Factor 6	Protein Coding	26.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	LRRK2	Leucine Rich Repeat Kinase 2	Protein Coding	7.45	GeneCards inferred via : Variants (show sections)
3	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	5.76	DISEASES inferred ¹⁵
4	GDF5	Growth Differentiation Factor 5	Protein Coding	5.7	DISEASES inferred ¹⁵
5	CCDC8	Coiled-Coil Domain Containing 8	Protein Coding	5.37	DISEASES inferred ¹⁵
6	OBSL1	Obscurin Like Cytoskeletal Adaptor 1	Protein Coding	5.33	DISEASES inferred ¹⁵

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Variations for Klippel-Feil Syndrome 1

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Expression for Klippel-Feil Syndrome 1

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

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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	Hippo signaling pathway ³⁶	11.33	GDF6 GDF5 BMPR1B
2	TGF-beta signaling pathway (KEGG) ³⁶	10.77	GDF6 GDF5 BMPR1B

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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

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Sources for Klippel-Feil Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁶ DrugBank

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²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia