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

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

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

Name: Klippel-Feil Syndrome 1, Autosomal Dominant ⁵⁴ ⁶⁶ ²⁹ ¹³

Cervical Vertebral Fusion Autosomal Dominant ⁶⁶

Klippel-Feil Syndrome, Autosomal Dominant ⁶⁹

Cervical Vertebral Fusion Congenital ⁶⁶

Fused Cervical Segments Congenital ⁶⁶

Congenital Klippel-Feil Segment ⁶⁶

Isolated Klippel-Feil Syndrome ⁶⁶

Klippel-Feil Malformation ⁶⁶

Klippel-Feil Sequence ⁶⁶

Kfs1 ⁶⁶

Characteristics:

HPO:

³²

klippel-feil syndrome 1, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁴ 118100

MedGen ⁴⁰ C1861689

MeSH ⁴² D007714

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Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

OMIM : ⁵⁴ 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 short neck, scoliosis and cleft palate. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : ⁶⁶ 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.

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Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

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	Klippel-Feil Syndrome 4

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

id	Related Disease	Score
1	klippel-feil syndrome	11.2
2	isolated klippel-feil syndrome	11.2
3	klippel-feil syndrome 3, autosomal dominant	10.8
4	klippel-feil syndrome 2	10.8
5	klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	10.8
6	kallmann syndrome	9.9

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

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Symptoms & Phenotypes for Klippel-Feil Syndrome 1, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

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

³² (show all 19)

id	Description	HPO Source Accession
1	short neck ³²	HP:0000470
2	scoliosis ³²	HP:0002650
3	cleft palate ³²	HP:0000175
4	low posterior hairline ³²	HP:0002162
5	webbed neck ³²	HP:0000465
6	sprengel anomaly ³²	HP:0000912
7	abnormality of the ribs ³²	HP:0000772
8	facial asymmetry ³²	HP:0000324
9	abnormality of cardiovascular system morphology ³²	HP:0030680
10	congenital muscular torticollis ³²	HP:0005988
11	unilateral renal agenesis ³²	HP:0000122
12	abnormal vertebral segmentation and fusion ³²	HP:0005640
13	mixed hearing impairment ³²	HP:0000410
14	abnormality of limb bone morphology ³²	HP:0002813
15	bimanual synkinesia ³²	HP:0001335
16	posterior fossa cyst ³²	HP:0007291
17	limited neck range of motion ³²	HP:0000466
18	cervical c2/c3 vertebral fusion ³²	HP:0004602
19	cervicomedullary schisis ³²	HP:0030325

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

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

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

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Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 1, Autosomal Dominant:

id	Genetic test	Affiliating Genes
1	Klippel-Feil Syndrome 1, Autosomal Dominant ²⁹

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Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

³⁹

Bone

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Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Genes for Klippel-Feil Syndrome 1, Autosomal Dominant

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

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	GDF6	Growth Differentiation Factor 6	1230.62	Molecular basis known ⁵⁴ Pathogenic ⁶ Causative variation ⁶⁶ GeneCards inferred via : Disorders Variants (show sections)	18425797 19129173 23307924

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Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

⁶⁶

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:

⁶

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GDF6	NM_001001557.3(GDF6): c.125G> T (p.Gly42Val)	single nucleotide variant	Pathogenic	rs121909354	GRCh37	Chromosome 8, 97172796: 97172796

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Expression for Klippel-Feil Syndrome 1, Autosomal Dominant

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

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Pathways for Klippel-Feil Syndrome 1, Autosomal Dominant

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GO Terms for Klippel-Feil Syndrome 1, Autosomal Dominant

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Klippel-Feil Syndrome 1, Autosomal Dominant (KFS1) malady

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

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

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Diseases in the Klippel-Feil Syndrome family:

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

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

Symptoms & Phenotypes for Klippel-Feil Syndrome 1, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Interventional clinical trials:

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 1, Autosomal Dominant:

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes for Klippel-Feil Syndrome 1, Autosomal Dominant

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

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

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

Expression for Klippel-Feil Syndrome 1, Autosomal Dominant

Pathways for Klippel-Feil Syndrome 1, Autosomal Dominant

GO Terms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant