MCID: KLP007
MIFTS: 26

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 51 69 26 12
Cervical Vertebral Fusion Autosomal Dominant 69
Klippel-Feil Syndrome, Autosomal Dominant 67
Cervical Vertebral Fusion Congenital 69
Fused Cervical Segments Congenital 69
 
Congenital Klippel-Feil Segment 69
Isolated Klippel-Feil Syndrome 69
Klippel-Feil Malformation 69
Klippel-Feil Sequence 69
Kfs1 69

Characteristics:

HPO:

63
klippel-feil syndrome 1, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 118100
MedGen36 C1861689
MeSH38 D007714

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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OMIM:51 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). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 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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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:

idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome11.2
2isolated klippel-feil syndrome11.1
3klippel-feil syndrome 3, autosomal dominant10.8
4klippel-feil syndrome 210.8
5klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism10.8

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

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

 63 (show all 19)
id Description HPO Frequency HPO Source Accession
1 limited neck range of motion63 hallmark (90%) HP:0000466
2 short neck63 hallmark (90%) HP:0000470
3 cervical c2/c3 vertebral fusion63 hallmark (90%) HP:0004602
4 abnormal vertebral segmentation and fusion63 hallmark (90%) HP:0005640
5 low posterior hairline63 typical (50%) HP:0002162
6 scoliosis63 30% HP:0002650
7 sprengel anomaly63 21% HP:0000912
8 abnormality of cardiovascular system morphology63 21% HP:0030680
9 facial asymmetry63 20% HP:0000324
10 webbed neck63 20% HP:0000465
11 congenital muscular torticollis63 20% HP:0005988
12 bimanual synkinesia63 9% HP:0001335
13 abnormality of the ribs63 occasional (7.5%) HP:0000772
14 abnormality of limb bone morphology63 occasional (7.5%) HP:0002813
15 posterior fossa cyst63 occasional (7.5%) HP:0007291
16 unilateral renal agenesis63 7% HP:0000122
17 cleft palate63 rare (5%) HP:0000175
18 mixed hearing impairment63 rare (5%) HP:0000410
19 cervicomedullary schisis63 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 Dominant26

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

35
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:

69
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_001001557.3(GDF6): c.746C> A (p.Ala249Glu)SNVPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.3(GDF6): c.866T> C (p.Leu289Pro)SNVPathogenicrs63751220GRCh37Chr 8, 97157293: 97157293
3GDF6NM_001001557.3(GDF6): c.1271A> G (p.Lys424Arg)SNVPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888
4GDF6NM_001001557.3(GDF6): c.125G> T (p.Gly42Val)SNVPathogenicrs121909354GRCh37Chr 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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GO Terms for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet