KFS3
MCID: KLP006
MIFTS: 19

Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3) malady

Categories: Genetic diseases, Rare diseases, Ear diseases

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

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

Name: Klippel-Feil Syndrome 3, Autosomal Dominant 54 66 29 13 69
Kfs3 66

Characteristics:

HPO:

32
klippel-feil syndrome 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613702
MedGen 40 C3150967
MeSH 42 D007714

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

OMIM : 54 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 cervical c2/c3 vertebral fusion. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3).

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 3 11.2
2 klippel-feil syndrome 1, autosomal dominant 10.9

Symptoms & Phenotypes for Klippel-Feil Syndrome 3, Autosomal Dominant

Clinical features from OMIM:

613702

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

32
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 cervical c5/c6 vertebrae fusion 32 HP:0004635
3 cervical c2/c3 vertebral fusion 32 HP:0004602
4 irido-fundal coloboma 32 HP:0007748

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

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

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 3, Autosomal Dominant 29

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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

66
id Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg266Cys VAR_065148 rs140926412

Expression for Klippel-Feil Syndrome 3, Autosomal Dominant

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

Pathways for Klippel-Feil Syndrome 3, Autosomal Dominant

GO Terms for Klippel-Feil Syndrome 3, Autosomal Dominant

Sources for Klippel-Feil Syndrome 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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