KFS3
MCID: KLP006
MIFTS: 19

Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3)

Categories: Bone diseases, Genetic diseases, Rare diseases
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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 73 28 12 5 71
Kfs3 57 73
Klippel-Feil Syndrome, Type 3, Autosomal Dominant 38

Classifications:



External Ids:

OMIM® 57 613702
OMIM Phenotypic Series 57 PS118100
MeSH 43 D007714
MedGen 40 C3150967
SNOMED-CT via HPO 69 39302008
UMLS 71 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) (Updated 08-Dec-2022)

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 iris coloboma and chorioretinal coloboma

UniProtKB/Swiss-Prot: 73 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

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

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

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 iris coloboma 30 HP:0000612
2 chorioretinal coloboma 30 HP:0000567
3 thoracic scoliosis 30 HP:0002943
4 cervical c5/c6 vertebrae fusion 30 HP:0004635
5 cervical c3/c4 vertebral fusion 30 HP:0030281

Clinical features from OMIM®:

613702 (Updated 08-Dec-2022)

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

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

MalaCards : Bone

Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

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

# Title Authors PMID Year
1
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 57 5
19864492 2010
2
Klippel-Feil syndrome: clinical features and current understanding of etiology. 57
15241163 2004
3
Identification of prevalent potyvirus on maize and johnsongrass in corn fields of Tehran province of Iran and a study on some of its properties. 62
17390895 2006

Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF3 NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) SNV Likely Pathogenic
30591 rs140926412 GRCh37: 12:7842773-7842773
GRCh38: 12:7690177-7690177
2 GDF3 NM_020634.3(GDF3):c.161T>C (p.Ile54Thr) SNV Uncertain Significance
642837 rs910081119 GRCh37: 12:7848164-7848164
GRCh38: 12:7695568-7695568
3 GDF3 NM_020634.3(GDF3):c.709A>G (p.Thr237Ala) SNV Uncertain Significance
538877 rs934067367 GRCh37: 12:7842860-7842860
GRCh38: 12:7690264-7690264
4 GDF3 NM_020634.3(GDF3):c.910T>C (p.Ser304Pro) SNV Uncertain Significance
657164 rs774437736 GRCh37: 12:7842659-7842659
GRCh38: 12:7690063-7690063
5 overlap with 46 genes NC_000012.11:g.(?_6945914)_(9027627_?)dup DUP Uncertain Significance
1004385 GRCh37: 12:6945914-9027627
GRCh38:
6 GDF3 NM_020634.3(GDF3):c.751G>A (p.Ala251Thr) SNV Uncertain Significance
946377 rs764970795 GRCh37: 12:7842818-7842818
GRCh38: 12:7690222-7690222
7 GDF3 NM_020634.3(GDF3):c.186G>A (p.Ala62=) SNV Likely Benign
1081207 GRCh37: 12:7848139-7848139
GRCh38: 12:7695543-7695543
8 GDF3 NM_020634.3(GDF3):c.635C>T (p.Ser212Leu) SNV Likely Benign
717943 rs372790667 GRCh37: 12:7842934-7842934
GRCh38: 12:7690338-7690338
9 GDF3 NM_020634.3(GDF3):c.480C>T (p.Thr160=) SNV Likely Benign
772340 rs141133108 GRCh37: 12:7843089-7843089
GRCh38: 12:7690493-7690493
10 GDF3 NM_020634.3(GDF3):c.579C>T (p.Asn193=) SNV Benign
1562457 GRCh37: 12:7842990-7842990
GRCh38: 12:7690394-7690394
11 GDF3 NM_020634.3(GDF3):c.982G>C (p.Val328Leu) SNV Benign
471501 rs2302516 GRCh37: 12:7842587-7842587
GRCh38: 12:7689991-7689991
12 GDF3 NM_020634.3(GDF3):c.123C>G (p.Pro41=) SNV Benign
1165048 GRCh37: 12:7848202-7848202
GRCh38: 12:7695606-7695606
13 GDF3 NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) SNV Benign
30592 rs387906945 GRCh37: 12:7842655-7842655
GRCh38: 12:7690059-7690059
14 GDF3 NM_020634.3(GDF3):c.637G>A (p.Gly213Arg) SNV Benign
1164810 GRCh37: 12:7842932-7842932
GRCh38: 12:7690336-7690336
15 GDF3 NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) SNV Benign
767184 rs112895783 GRCh37: 12:7842986-7842986
GRCh38: 12:7690390-7690390

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

73
# 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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