MCID: KLP006
MIFTS: 16

Klippel-Feil Syndrome 3, Autosomal Dominant malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases categories

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 46 9 22


Classifications:



External Ids:

OMIM46 613702

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

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OMIM:46 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 and has symptoms including autosomal dominant inheritance, scoliosis and cervical vertebrae fusion (c5/c6). An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (growth differentiation factor 3).

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

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 autosomal dominant inheritance HP:0000006
2 scoliosis HP:0002650
3 cervical vertebrae fusion (c5/c6) HP:0004635
4 irido-fundal coloboma HP:0007748

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

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Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 3, Autosomal Dominant

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 Dominant22

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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet