KFS3
MCID: KLP006
MIFTS: 14

Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal 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 58 76 30 13 6 74
Kfs3 58 76
Klippel-Feil Syndrome, Type 3, Autosomal Dominant 41

Characteristics:

HPO:

33
klippel-feil syndrome 3, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613702
MeSH 45 D007714
MedGen 43 C3150967
SNOMED-CT via HPO 70 263681008 39302008
UMLS 74 C3150967

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

OMIM : 58 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). Affiliated tissues include bone, and related phenotypes are chorioretinal coloboma and iris coloboma

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 33 HP:0000567
2 iris coloboma 33 HP:0000612
3 thoracic scoliosis 33 HP:0002943
4 cervical c5/c6 vertebrae fusion 33 HP:0004635
5 cervical c3/c4 vertebral fusion 33 HP:0030281

Clinical features from OMIM:

613702

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 30 GDF3

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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

42
Bone

Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

Articles related to Klippel-Feil Syndrome 3, Autosomal Dominant:

# Title Authors Year
1
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. ( 19864492 )
2010

Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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

76
# 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.796C> T (p.Arg266Cys) single nucleotide variant Likely benign rs140926412 GRCh37 Chromosome 12, 7842773: 7842773
2 GDF3 NM_020634.2(GDF3): c.796C> T (p.Arg266Cys) single nucleotide variant Likely benign rs140926412 GRCh38 Chromosome 12, 7690177: 7690177
3 GDF3 NM_020634.2(GDF3): c.982G> C (p.Val328Leu) single nucleotide variant Benign rs2302516 GRCh37 Chromosome 12, 7842587: 7842587
4 GDF3 NM_020634.2(GDF3): c.982G> C (p.Val328Leu) single nucleotide variant Benign rs2302516 GRCh38 Chromosome 12, 7689991: 7689991
5 GDF3 NM_020634.2(GDF3): c.709A> G (p.Thr237Ala) single nucleotide variant Uncertain significance rs934067367 GRCh37 Chromosome 12, 7842860: 7842860
6 GDF3 NM_020634.2(GDF3): c.709A> G (p.Thr237Ala) single nucleotide variant Uncertain significance rs934067367 GRCh38 Chromosome 12, 7690264: 7690264

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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