MCID: KLP006
MIFTS: 16

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 49 11 67 24 65
 
Kfs3 67

Characteristics:

HPO:

61
klippel-feil syndrome 3, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 613702
MedGen34 C3150967
MeSH36 D007714
UMLS65 C3150967

Summaries for Klippel-Feil Syndrome 3, 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... (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 vertebrae fusion (c5/c6) and irido-fundal coloboma. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 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 vertebrae fusion (c5/c6) HP:0004635
3 irido-fundal coloboma HP:0007748

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

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Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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MalaCards organs/tissues related to Klippel-Feil Syndrome 3, Autosomal Dominant:

33
Bone

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:

67
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
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