MCID: KLP007
MIFTS: 32

Klippel-Feil Syndrome 1, Autosomal Dominant malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Ear diseases

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

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

Name: Klippel-Feil Syndrome 1, Autosomal Dominant 50 68 25 12
Cervical Vertebral Fusion Autosomal Dominant 68
Cervical Vertebral Fusion Congenital 68
Fused Cervical Segments Congenital 68
Congenital Klippel-Feil Segment 68
 
Isolated Klippel-Feil Syndrome 68
Klippel-Feil Malformation 68
Klippel-Feil Sequence 68
Kfs1 68

Characteristics:

HPO:

62
klippel-feil syndrome 1, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 118100
MedGen35 C1861689
MeSH37 D007714

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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OMIM:50 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 limited neck range of motion, short neck and cervical c2/c3 vertebral fusion. 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.

UniProtKB/Swiss-Prot:68 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

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



Diseases related to klippel-feil syndrome 1, autosomal dominant

Symptoms for Klippel-Feil Syndrome 1, Autosomal Dominant

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

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

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

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 1, Autosomal Dominant25

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

34
Bone

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

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Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

68
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Leu289ProVAR_046904rs63751220
3GDF6p.Gly42ValVAR_063024rs121909354
4GDF6p.Lys424ArgVAR_063029rs121909353

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)single nucleotide variantPathogenicrs63751220GRCh37Chr 8, 97157293: 97157293
3GDF6NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)single nucleotide variantPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888
4GDF6NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)single nucleotide variantPathogenicrs121909354GRCh37Chr 8, 97172796: 97172796

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

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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

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1GDF3, GDF6

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

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

idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:00603959.5GDF3, GDF6
2growthGO:00400079.4GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3GDF3, GDF6
4cell developmentGO:00484689.3GDF3, GDF6
5regulation of MAPK cascadeGO:00434089.1GDF3, GDF6
6regulation of apoptotic processGO:00429818.8GDF3, GDF6

Molecular functions related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:00051609.6GDF3, GDF6
2growth factor activityGO:00080839.1GDF3, GDF6
3cytokine activityGO:00051258.8GDF3, GDF6

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet