MCID: KLP006
MIFTS: 18

Klippel-Feil Syndrome 3, Autosomal Dominant malady

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

Aliases & Classifications for Klippel-Feil Syndrome 3, Autosomal Dominant

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Aliases & Descriptions for Klippel-Feil Syndrome 3, Autosomal Dominant:

Name: Klippel-Feil Syndrome 3, Autosomal Dominant 50 68 25 12
 
Kfs3 68

Characteristics:

HPO:

62
klippel-feil syndrome 3, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613702
MedGen35 C3150967
MeSH37 D007714

Summaries for Klippel-Feil Syndrome 3, 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... (613702) more...

MalaCards based summary: Klippel-Feil Syndrome 3, Autosomal Dominant, also known as kfs3, is related to klippel-feil syndrome 3 and klippel-feil syndrome 1, autosomal dominant, and has symptoms including scoliosis, cervical c5/c6 vertebrae fusion and irido-fundal coloboma. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3).

UniProtKB/Swiss-Prot:68 Klippel-Feil syndrome 3, 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.

Related Diseases for Klippel-Feil Syndrome 3, 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

Diseases related to Klippel-Feil Syndrome 3, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome 311.4
2klippel-feil syndrome 1, autosomal dominant10.0

Symptoms for Klippel-Feil Syndrome 3, Autosomal Dominant

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Clinical features from OMIM:

613702

HPO human phenotypes related to Klippel-Feil Syndrome 3, Autosomal Dominant:

id Description Frequency HPO Source Accession
1 scoliosis HP:0002650
2 cervical c5/c6 vertebrae fusion HP:0004635
3 irido-fundal coloboma HP:0007748

Drugs & Therapeutics for Klippel-Feil Syndrome 3, 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 3, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

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Genetic tests related to Klippel-Feil Syndrome 3, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 3, Autosomal Dominant25

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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Animal Models for Klippel-Feil Syndrome 3, Autosomal Dominant or affiliated genes

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Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

68
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412

Clinvar genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773

Expression for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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Search GEO for disease gene expression data for Klippel-Feil Syndrome 3, Autosomal Dominant.

Pathways for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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GO Terms for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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Sources for Klippel-Feil Syndrome 3, 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