MCID: KLP006
MIFTS: 19

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 51 69 26 12 67
 
Kfs3 69

Characteristics:

HPO:

63
klippel-feil syndrome 3, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 613702
MedGen36 C3150967
MeSH38 D007714

Summaries for Klippel-Feil Syndrome 3, 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... (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:69 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 Klippel-Feil Syndrome 4

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 311.2
2klippel-feil syndrome 1, autosomal dominant10.9

Symptoms for Klippel-Feil Syndrome 3, Autosomal Dominant

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Clinical features from OMIM:

613702

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

 63
id Description HPO Frequency HPO Source Accession
1 scoliosis63 HP:0002650
2 cervical c5/c6 vertebrae fusion63 HP:0004635
3 irido-fundal coloboma63 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 Dominant26

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:

69
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_020634.2(GDF3): c.796C> T (p.Arg266Cys)SNVPathogenicrs140926412GRCh37Chr 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
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