MCID: KLP006
MIFTS: 14

Klippel-Feil Syndrome 3, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Ear 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 57 75 29 13 6 73
Kfs3 57 75
Klippel-Feil Syndrome, Type 3, Autosomal Dominant 40

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 613702
MedGen 42 C3150967
MeSH 44 D007714
SNOMED-CT via HPO 69 263681008 39302008
UMLS 73 C3150967

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

OMIM : 57 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. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3). Related phenotypes are chorioretinal coloboma and iris coloboma

UniProtKB/Swiss-Prot : 75 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:

32
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 32 HP:0000567
2 iris coloboma 32 HP:0000612
3 thoracic scoliosis 32 HP:0002943
4 cervical c5/c6 vertebrae fusion 32 HP:0004635
5 cervical c3/c4 vertebral fusion 32 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 29 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:

75
# Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg266Cys VAR_065148 rs140926412

ClinVar genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF3 NM_020634.2(GDF3): c.982G> C (p.Val328Leu) single nucleotide variant Benign rs2302516 GRCh38 Chromosome 12, 7689991: 7689991
2 GDF3 NM_020634.2(GDF3): c.982G> C (p.Val328Leu) single nucleotide variant Benign rs2302516 GRCh37 Chromosome 12, 7842587: 7842587
3 GDF3 NM_020634.2(GDF3): c.709A> G (p.Thr237Ala) single nucleotide variant Uncertain significance rs934067367 GRCh38 Chromosome 12, 7690264: 7690264
4 GDF3 NM_020634.2(GDF3): c.709A> G (p.Thr237Ala) single nucleotide variant Uncertain significance rs934067367 GRCh37 Chromosome 12, 7842860: 7842860

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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