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

Aliases & Classifications for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁹OMIM, ¹¹diseasecard, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ⁶⁵UMLS, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant ⁴⁹ ¹¹ ⁶⁷ ²⁴

Cervical Vertebral Fusion Autosomal Dominant ⁶⁷

Klippel-Feil Syndrome, Autosomal Dominant ⁶⁵

Cervical Vertebral Fusion Congenital ⁶⁷

Fused Cervical Segments Congenital ⁶⁷

Congenital Klippel-Feil Segment ⁶⁷

Isolated Klippel-Feil Syndrome ⁶⁷

Klippel-Feil Malformation ⁶⁷

Klippel-Feil Sequence ⁶⁷

Kfs1 ⁶⁷

Characteristics:

HPO:

⁶¹

klippel-feil syndrome 1, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM⁴⁹ 118100

MedGen³⁴ C1861689

MeSH³⁶ D007714

UMLS⁶⁵ C1861689

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ³³MalaCards
See all MalaCards sources

OMIM:⁴⁹ Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the... (118100) more...

MalaCards based summary: Klippel-Feil Syndrome 1, Autosomal Dominant, also known as cervical vertebral fusion autosomal dominant, is related to klippel-feil syndrome and isolated klippel-feil syndrome, and has symptoms including abnormal vertebral segmentation and fusion, cervical vertebral fusion (c2/c3) and short neck. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6), and among its related pathways is TGF-beta Signaling Pathway (sino). Affiliated tissues include bone and heart.

UniProtKB/Swiss-Prot:⁶⁷ Klippel-Feil syndrome 1, autosomal dominant: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases in the Klippel-Feil Syndrome family:

klippel-feil syndrome 1, autosomal dominant	Klippel-Feil Syndrome 3, Autosomal Dominant
Klippel-Feil Syndrome 2	Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3

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

(show all 15)

id	Related Disease	Score	Top Affiliating Genes
1	klippel-feil syndrome	11.4
2	isolated klippel-feil syndrome	11.4
3	kallmann syndrome	10.0
4	klippel-feil syndrome 3, autosomal dominant	9.9
5	klippel-feil syndrome 2	9.9
6	klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	9.9
7	polyvalvular heart disease syndrome	9.7	GDF3, GDF6
8	leber congenital amaurosis 17	9.7	GDF3, GDF6
9	microphthalmia, isolated 4	9.7	GDF3, GDF6
10	microphthalmia with coloboma 6, digenic	9.6	GDF3, GDF6
11	pyruvate dehydrogenase phosphatase deficiency	9.6	GDF3, GDF6
12	isolated nonsyndromic congenital heart disease/defects	9.5	GDF3, GDF6
13	interstitial nephritis	9.5	GDF3, GDF6
14	partial cryptophthalmia	9.4	GDF3, GDF6
15	stable condition keratoconus	9.3	GDF3, GDF6

Graphical network of diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant:

Symptoms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

HPO human phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

(show all 19)

id	Description	Frequency	HPO Source Accession
1	abnormal vertebral segmentation and fusion	hallmark (90%)	HP:0005640
2	cervical vertebral fusion (c2/c3)	hallmark (90%)	HP:0004602
3	short neck	hallmark (90%)	HP:0000470
4	limited neck range of motion	hallmark (90%)	HP:0000466
5	low posterior hairline	typical (50%)	HP:0002162
6	scoliosis	30%	HP:0002650
7	abnormality of cardiovascular system morphology	21%	HP:0030680
8	sprengel anomaly	21%	HP:0000912
9	congenital muscular torticollis	20%	HP:0005988
10	webbed neck	20%	HP:0000465
11	facial asymmetry	20%	HP:0000324
12	bimanual synkinesia	9%	HP:0001335
13	posterior fossa cyst	occasional (7.5%)	HP:0007291
14	abnormality of limb bone morphology	occasional (7.5%)	HP:0002813
15	abnormality of the ribs	occasional (7.5%)	HP:0000772
16	unilateral renal agenesis	7%	HP:0000122
17	mixed hearing impairment	rare (5%)	HP:0000410
18	cleft palate	rare (5%)	HP:0000175
19	cervicomedullary schisis		HP:0030325

Drugs & Therapeutics for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
³³MalaCards
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MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

³³

Bone, Heart

Animal Models for Klippel-Feil Syndrome 1, Autosomal Dominant or affiliated genes

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	GDF6	Growth Differentiation Factor 6	1230.65	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ GeneCards inferred via : Disorders, Variants (show sections)
2	GDF3	Growth Differentiation Factor 3	500.00	Molecular basis known ⁴⁹

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar, ⁸dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

⁶⁷

id	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Ala249Glu	VAR_046903	rs121909352
2	GDF6	p.Leu289Pro	VAR_046904	rs63751220
3	GDF6	p.Gly42Val	VAR_063024	rs121909354
4	GDF6	p.Lys424Arg	VAR_063029	rs121909353

Clinvar genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GDF6	NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)	single nucleotide variant	Pathogenic	rs121909352	GRCh37	Chr 8, 97157413: 97157413
2	GDF6	NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)	single nucleotide variant	Pathogenic	rs63751220	GRCh37	Chr 8, 97157293: 97157293
3	GDF6	NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)	single nucleotide variant	Pathogenic	rs121909353	GRCh37	Chr 8, 97156888: 97156888
4	GDF6	NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)	single nucleotide variant	Pathogenic	rs121909354	GRCh37	Chr 8, 97172796: 97172796

Expression for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
¹⁷Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Klippel-Feil Syndrome 1, Autosomal Dominant.

Pathways for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁵²PathCards, ⁵⁸SinoBiological
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Pathways related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	TGF-beta Signaling Pathway (sino)⁵⁸ Show member pathways TGF-beta Signaling Pathway⁵⁸	9.1	GDF3, GDF6

GO Terms for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
¹⁸Gene Ontology
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Biological processes related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of MAPK cascade	GO:0043408	9.2	GDF3, GDF6
2	BMP signaling pathway	GO:0030509	9.1	GDF3, GDF6
3	growth	GO:0040007	9.1	GDF3, GDF6
4	SMAD protein signal transduction	GO:0060395	9.0	GDF3, GDF6
5	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	8.8	GDF3, GDF6