MCID: KLP007
MIFTS: 26

Klippel-Feil Syndrome 1, Autosomal Dominant

Categories: Genetic diseases, Ear diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome 1, Autosomal Dominant

MalaCards integrated aliases for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant 53 71 28 13
Kfs1 53 71
Cervical Vertebral Fusion, Autosomal Dominant 53
Cervical Vertebral Fusion Autosomal Dominant 71
Klippel-Feil Syndrome, Autosomal Dominant 69
Cervical Vertebral Fusion Congenital 71
Fused Cervical Segments Congenital 71
Congenital Klippel-Feil Segment 71
Isolated Klippel-Feil Syndrome 71
Klippel-Feil Malformation 71
Klippel-Feil Sequence 71
Kfs 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity (see )
klippel-feil anomaly may be a part of other syndromes, including murcs and sprengel deformity


HPO:

31
klippel-feil syndrome 1, autosomal dominant:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 71 Klippel-Feil syndrome 1, 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. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.

MalaCards based summary : Klippel-Feil Syndrome 1, Autosomal Dominant, also known as kfs1, is related to klippel-feil syndrome and isolated klippel-feil syndrome, and has symptoms including unilateral renal agenesis, cleft palate and facial asymmetry. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone.

OMIM : 53 Klippel-Feil syndrome (KFS) 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). (118100)

Related Diseases for Klippel-Feil Syndrome 1, 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

Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 11.9
2 isolated klippel-feil syndrome 11.2
3 klippel-feil syndrome 2, autosomal recessive 10.9
4 klippel-feil syndrome 3, autosomal dominant 10.9
5 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 10.9

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant:



Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant

Symptoms & Phenotypes for Klippel-Feil Syndrome 1, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckNeck:
short neck
limited neck range of motion

HeadAndNeckMouth:
cleft palate

ChestRibsSternumClaviclesAndScapulae:
sprengel anomaly

HeadAndNeckEars:
hearing loss, conductive
hearing loss, sensorineural

SkeletalSpine:
scoliosis
fusion of cervical vertebrae, most often c2-3

SkinNailsHairHair:
low posterior hairline

HeadAndNeckFace:
facial asymmetry


Clinical features from OMIM:

118100

Human phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 unilateral renal agenesis 31 very rare (1%) HP:0000122
2 cleft palate 31 occasional (7.5%) HP:0000175
3 facial asymmetry 31 very rare (1%) HP:0000324
4 mixed hearing impairment 31 very rare (1%) HP:0000410
5 webbed neck 31 very rare (1%) HP:0000465
6 limited neck range of motion 31 hallmark (90%) HP:0000466
7 short neck 31 hallmark (90%) HP:0000470
8 abnormality of the ribs 31 occasional (7.5%) HP:0000772
9 sprengel anomaly 31 very rare (1%) HP:0000912
10 bimanual synkinesia 31 very rare (1%) HP:0001335
11 low posterior hairline 31 frequent (33%) HP:0002162
12 scoliosis 31 very rare (1%) HP:0002650
13 abnormality of limb bone morphology 31 occasional (7.5%) HP:0002813
14 cervical c2/c3 vertebral fusion 31 hallmark (90%) HP:0004602
15 abnormal vertebral segmentation and fusion 31 hallmark (90%) HP:0005640
16 congenital muscular torticollis 31 very rare (1%) HP:0005988
17 posterior fossa cyst 31 occasional (7.5%) HP:0007291
18 cervicomedullary schisis 31 HP:0030325
19 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680

Drugs & Therapeutics for Klippel-Feil Syndrome 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 1, Autosomal Dominant 28 GDF6

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

38
Bone

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Articles related to Klippel-Feil Syndrome 1, Autosomal Dominant:

# Title Authors Year
1
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? ( 7762597 )
1995
2
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. ( 6641005 )
1983

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

71
# Symbol AA change Variation ID SNP ID
1 GDF6 p.Ala249Glu VAR_046903 rs121909352
2 GDF6 p.Leu289Pro VAR_046904 rs63751220
3 GDF6 p.Gly42Val VAR_063024 rs121909354
4 GDF6 p.Lys424Arg VAR_063029 rs121909353

ClinVar genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.125G> T (p.Gly42Val) single nucleotide variant Pathogenic rs121909354 GRCh37 Chromosome 8, 97172796: 97172796

Expression for Klippel-Feil Syndrome 1, Autosomal Dominant

Search GEO for disease gene expression data for Klippel-Feil Syndrome 1, Autosomal Dominant.

Pathways for Klippel-Feil Syndrome 1, Autosomal Dominant

GO Terms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources for Klippel-Feil Syndrome 1, 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
Content
Loading form....