MCID: KLP007
MIFTS: 30

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 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:



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OMIM49 118100
MedGen34 C1861689
MeSH36 D007714
UMLS65 C1861689

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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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

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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 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

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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

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Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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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

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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:

67
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
1regulation of MAPK cascadeGO:00434089.2GDF3, GDF6
2BMP signaling pathwayGO:00305099.1GDF3, GDF6
3growthGO:00400079.1GDF3, GDF6
4SMAD protein signal transductionGO:00603959.0GDF3, GDF6
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.8GDF3, GDF6

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet