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 52 70 27 12 68
 
Kfs3 70

Characteristics:

HPO:

64
klippel-feil syndrome 3, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613702
MedGen37 C3150967
MeSH39 D007714

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

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OMIM:52 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:70 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 scoliosis64 HP:0002650
2 cervical c5/c6 vertebrae fusion64 HP:0004635
3 irido-fundal coloboma64 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 Dominant27

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet