MCID: KLP006
MIFTS: 14

Klippel-Feil Syndrome 3, Autosomal Dominant

Categories: Genetic diseases, Ear diseases, Rare diseases

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

MalaCards integrated aliases for Klippel-Feil Syndrome 3, Autosomal Dominant:

Name: Klippel-Feil Syndrome 3, Autosomal Dominant 53 71 28 13 69
Kfs3 53 71

Characteristics:

HPO:

31
klippel-feil syndrome 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613702
MedGen 39 C3150967
MeSH 41 D007714
SNOMED-CT via HPO 65 263681008 39302008
UMLS 69 C3150967

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

OMIM : 53 Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (613702)

MalaCards based summary : Klippel-Feil Syndrome 3, Autosomal Dominant, is also known as kfs3, and has symptoms including chorioretinal coloboma, iris coloboma and thoracic scoliosis. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3).

UniProtKB/Swiss-Prot : 71 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 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant

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

Clinical features from OMIM:

613702

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

31
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 31 HP:0000567
2 iris coloboma 31 HP:0000612
3 thoracic scoliosis 31 HP:0002943
4 cervical c5/c6 vertebrae fusion 31 HP:0004635
5 cervical c3/c4 vertebral fusion 31 HP:0030281

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 3, Autosomal Dominant 28 GDF3

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:

71
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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