KFS1
MCID: KLP007
MIFTS: 26

Klippel-Feil Syndrome 1, Autosomal Dominant (KFS1) malady

Categories: Genetic diseases, Rare diseases, Ear diseases

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

Aliases & Descriptions for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant 54 66 29 13
Cervical Vertebral Fusion Autosomal Dominant 66
Klippel-Feil Syndrome, Autosomal Dominant 69
Cervical Vertebral Fusion Congenital 66
Fused Cervical Segments Congenital 66
Congenital Klippel-Feil Segment 66
Isolated Klippel-Feil Syndrome 66
Klippel-Feil Malformation 66
Klippel-Feil Sequence 66
Kfs1 66

Characteristics:

HPO:

32
klippel-feil syndrome 1, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 118100
MedGen 40 C1861689
MeSH 42 D007714

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

OMIM : 54 Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the... (118100) more...

MalaCards based summary : Klippel-Feil Syndrome 1, Autosomal Dominant, also known as cervical vertebral fusion autosomal dominant, is related to klippel-feil syndrome and isolated klippel-feil syndrome, and has symptoms including short neck, scoliosis and cleft palate. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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.

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 3, Autosomal Dominant
Klippel-Feil Syndrome 2 Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

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

id Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 11.2
2 isolated klippel-feil syndrome 11.2
3 klippel-feil syndrome 3, autosomal dominant 10.8
4 klippel-feil syndrome 2 10.8
5 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 10.8
6 kallmann syndrome 9.9

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 by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

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

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 scoliosis 32 HP:0002650
3 cleft palate 32 HP:0000175
4 low posterior hairline 32 HP:0002162
5 webbed neck 32 HP:0000465
6 sprengel anomaly 32 HP:0000912
7 abnormality of the ribs 32 HP:0000772
8 facial asymmetry 32 HP:0000324
9 abnormality of cardiovascular system morphology 32 HP:0030680
10 congenital muscular torticollis 32 HP:0005988
11 unilateral renal agenesis 32 HP:0000122
12 abnormal vertebral segmentation and fusion 32 HP:0005640
13 mixed hearing impairment 32 HP:0000410
14 abnormality of limb bone morphology 32 HP:0002813
15 bimanual synkinesia 32 HP:0001335
16 posterior fossa cyst 32 HP:0007291
17 limited neck range of motion 32 HP:0000466
18 cervical c2/c3 vertebral fusion 32 HP:0004602
19 cervicomedullary schisis 32 HP:0030325

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 1, Autosomal Dominant 29

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

39
Bone

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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