KFS
MCID: KLP003
MIFTS: 44

Klippel-Feil Syndrome (KFS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome

MalaCards integrated aliases for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 12 25 54 37 44 15
Klippel Feil Syndrome 53 29 6
Congenital Dystrophia Brevicollis 12 25
Cervical Vertebral Fusion 53 25
Klippel-Feil Deformity, Deafness and Facial Asymmetry 12
Congenital Synostosis of Cervical Vertebrae 12
Klippel-Feil Syndrome, Autosomal Dominant 73
Autosomal Dominant Klippel-Feil Syndrome 12
Cervical Vertebral Fusion Syndrome 25
Vertebral Cervical Fusion Syndrome 25
Klippel-Feil and Turner Syndrome 12
Dystrophia Brevicollis Congenita 25
Fusion of Cervical Vertebrae 25
Cervical Fusion Syndrome 25
Klippel-Feil Deformity 25
Klippel-Feil Sequence 25
Klippelfeil Syndrome 76
Kfs 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10426
ICD10 33 Q76.1
ICD9CM 35 756.16
MeSH 44 D007714
NCIt 50 C98967
SNOMED-CT 68 5601008
KEGG 37 H00852

Summaries for Klippel-Feil Syndrome

NINDS : 54 Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing.  Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.

MalaCards based summary : Klippel-Feil Syndrome, also known as klippel feil syndrome, is related to klippel-feil syndrome 2, autosomal recessive and isolated klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include bone, spinal cord and heart, and related phenotypes are growth/size/body region and embryo

Disease Ontology : 12 A physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

Genetics Home Reference : 25 Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.

NIH Rare Diseases : 53 Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.

Wikipedia : 76 Klippel�??Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare condition... more...

Related Diseases for Klippel-Feil Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 2, autosomal recessive 34.0 RIPPLY2 MEOX1
2 isolated klippel-feil syndrome 33.5 MEOX1 GDF6 GDF3
3 scoliosis 30.1 RIPPLY2 PAX1 GDF3
4 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.9
5 klippel-feil syndrome 3, autosomal dominant 12.8
6 klippel-feil syndrome 1, autosomal dominant 12.8
7 frontonasal dysplasia klippel feil syndrome 12.4
8 sprengel deformity 11.8
9 cardiospondylocarpofacial syndrome 11.7
10 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.7
11 murcs association 11.7
12 segmentation syndrome 1 11.4
13 mental retardation, skeletal dysplasia, and abducens palsy 11.4
14 dermoid cyst 10.6
15 diastematomyelia 10.5
16 situs inversus 10.5
17 cleft palate, isolated 10.4
18 thoracic outlet syndrome 10.4
19 syringomyelia 10.4
20 schizophrenia 10.3
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
22 hydrocephalus 10.3
23 quadriplegia 10.3
24 aortic valve disease 1 10.3
25 neural tube defects 10.3
26 renal hypodysplasia/aplasia 1 10.3
27 pierre robin syndrome 10.3
28 craniosynostosis 10.3
29 myelomeningocele 10.3
30 meningocele 10.3
31 respiratory failure 10.3
32 heart disease 10.3
33 ankylosis 10.3
34 teratoma 10.3
35 meningitis 10.3
36 aortic coarctation 10.3
37 chiari malformation 10.3
38 isolated pierre robin sequence 10.3
39 neurenteric cyst 10.3
40 deficiency anemia 10.2
41 amyotrophic lateral sclerosis 1 10.1
42 atrial standstill 1 10.1
43 cervical rib 10.1
44 coarctation of aorta 10.1
45 fibrodysplasia ossificans progressiva 10.1
46 frontonasal dysplasia 1 10.1
47 hernia, hiatus 10.1
48 macroglossia 10.1
49 palatopharyngeal incompetence 10.1
50 proteus syndrome 10.1

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome:



Diseases related to Klippel-Feil Syndrome

Symptoms & Phenotypes for Klippel-Feil Syndrome

MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.72 GDF3 GDF6 MEOX1 PAX1 RIPPLY2
2 embryo MP:0005380 9.67 GDF3 MEOX1 PAX1 RIPPLY2
3 mortality/aging MP:0010768 9.63 GDF3 GDF6 MEOX1 MYO18B PAX1 RIPPLY2
4 limbs/digits/tail MP:0005371 9.56 GDF6 MEOX1 PAX1 RIPPLY2
5 muscle MP:0005369 9.26 MEOX1 MYO18B PAX1 RIPPLY2
6 skeleton MP:0005390 8.92 GDF6 MEOX1 PAX1 RIPPLY2

Drugs & Therapeutics for Klippel-Feil Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Airway Management of Pediatric Patients With Klippel-Feil Syndrome Recruiting NCT03741790
2 Study of Titanium-Coated PEEK Cages for Degenerative Disc Disease Recruiting NCT03565224
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Study Using the CervicalStim Device Following Cervical Fusion Enrolling by invitation NCT03177473

Search NIH Clinical Center for Klippel-Feil Syndrome

Cochrane evidence based reviews: klippel-feil syndrome

Genetic Tests for Klippel-Feil Syndrome

Genetic tests related to Klippel-Feil Syndrome:

# Genetic test Affiliating Genes
1 Klippel Feil Syndrome 29

Anatomical Context for Klippel-Feil Syndrome

MalaCards organs/tissues related to Klippel-Feil Syndrome:

41
Bone, Spinal Cord, Heart, Brain, Lung, Kidney, Colon

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 395)
# Title Authors Year
1
Spinal anesthesia with a low dosage of local anesthetic for urgent cesarean delivery in a parturient with Klippel-Feil syndrome. ( 30218886 )
2019
2
A Case of Intrathoracic Carotid Bifurcation Without Klippel-Feil Syndrome. ( 28967590 )
2018
3
Anomalous vertebral arteries in Klippel-Feil syndrome with occipitalized atlas: CT angiography. ( 29904491 )
2018
4
Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children. ( 29372238 )
2018
5
Concomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel-Feil Syndrome: A Case Report. ( 29763351 )
2018
6
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. ( 29492320 )
2018
7
Sedation in a child with Klippel-Feil syndrome scheduled for magnetic resonance imaging. ( 29619791 )
2018
8
Dexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome. ( 29887292 )
2018
9
The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. ( 29886918 )
2018
10
Klippel Feil Syndrome ( 29630209 )
2018
11
Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome. ( 30277257 )
2018
12
The Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report. ( 30258737 )
2018
13
Klippel-Feil Syndrome with Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report. ( 30028777 )
2018
14
"Sandwich Deformity" in Klippel-Feil syndrome: A "Full-Spectrum" presentation of associated craniovertebral junction abnormalities. ( 29731280 )
2018
15
Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome. ( 28387188 )
2017
16
Endoscopic third ventriculostomy for hydrocephalus in a patient with Klippel-Feil syndrome: a case report. ( 28781856 )
2017
17
Anesthetic Management for Twice in a Child with Klippel-Feil Syndrome. ( 29693948 )
2017
18
Unicornuate Uterus in Klippel Feil Syndrome. ( 28410901 )
2017
19
Lateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report. ( 29137102 )
2017
20
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome: Erratum. ( 28199244 )
2017
21
Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis. ( 28553382 )
2017
22
Klippel-Feil syndrome: Interchange of Plan A and B for airway management in the same patient under different circumstances. ( 28250492 )
2017
23
Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report. ( 28357553 )
2017
24
Cervical Deformity and Potential Difficult Airway Management in Klippel-Feil Syndrome. ( 29194060 )
2017
25
Endoscopic Resection of Skull Base Teratoma in Klippel-Feil Syndrome through Use of Combined Ultrasonic and Bipolar Diathermy Platforms. ( 28133560 )
2017
26
The Crossed Flexor Plantar Response in Patients with Klippel-Feil Syndrome. ( 28626413 )
2017
27
Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. ( 26990409 )
2016
28
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
29
A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. ( 27162441 )
2016
30
A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome. ( 27390547 )
2016
31
Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report. ( 27673225 )
2016
32
Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome. ( 27539778 )
2016
33
Airway management in newborn with Klippel-Feil syndrome. ( 27591474 )
2016
34
Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 lateral Mass and C2 Fixation and Reduction Technique. ( 27465418 )
2016
35
The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. ( 27444288 )
2016
36
Arterial thoracic outlet syndrome in Klippel-Feil syndrome. ( 26909867 )
2016
37
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
38
Klippel-Feil syndrome with butterfly vertebrae: rare case. ( 27032897 )
2016
39
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
40
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome. ( 27301052 )
2016
41
Association of Craniovertebral Junction Anomalies, Klippel-Feil Syndrome, Ruptured Dermoid Cyst and Mirror Movement in One Patient: A Unique Case and Literature Review. ( 26768882 )
2016
42
Monsters and the case of L. Joseph: AndrAc Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine. ( 27364256 )
2016
43
Large ovarian cystadenofibroma causing large bowel obstruction in a patient with Klippel-Feil syndrome-A case report. ( 26780471 )
2016
44
Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report. ( 29901000 )
2016
45
Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. ( 26096264 )
2015
46
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
47
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ( 26238661 )
2015
48
A rare case of Klippel-Feil syndrome associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and spina bifida. ( 26259886 )
2015
49
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. ( 25806098 )
2015
50
Congenital cervical vertebrae clefts in Klippel-Feil syndrome. ( 25724430 )
2015

Variations for Klippel-Feil Syndrome

ClinVar genetic disease variations for Klippel-Feil Syndrome:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
2 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
3 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
4 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
5 GDF6 NM_001001557.3(GDF6): c.*2243G> C single nucleotide variant Likely benign rs142786788 GRCh37 Chromosome 8, 97154548: 97154548
6 GDF6 NM_001001557.3(GDF6): c.*2243G> C single nucleotide variant Likely benign rs142786788 GRCh38 Chromosome 8, 96142320: 96142320
7 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh38 Chromosome 8, 96144242: 96144243
8 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh37 Chromosome 8, 97156470: 97156471
9 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh38 Chromosome 8, 96143782: 96143782
10 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh37 Chromosome 8, 97156010: 97156010
11 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh38 Chromosome 8, 96143721: 96143721
12 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh37 Chromosome 8, 97155949: 97155949
13 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh38 Chromosome 8, 96143479: 96143479
14 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh37 Chromosome 8, 97155707: 97155707
15 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh38 Chromosome 8, 96143473: 96143473
16 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh37 Chromosome 8, 97155701: 97155701
17 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh38 Chromosome 8, 96143133: 96143134
18 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh37 Chromosome 8, 97155361: 97155362
19 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh38 Chromosome 8, 96142562: 96142562
20 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh37 Chromosome 8, 97154790: 97154790
21 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh38 Chromosome 8, 96144627: 96144627
22 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh37 Chromosome 8, 97156855: 97156855
23 GDF6 NM_001001557.3(GDF6): c.*172A> G single nucleotide variant Likely benign rs115207215 GRCh38 Chromosome 8, 96144391: 96144391
24 GDF6 NM_001001557.3(GDF6): c.*172A> G single nucleotide variant Likely benign rs115207215 GRCh37 Chromosome 8, 97156619: 97156619
25 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh38 Chromosome 8, 96144314: 96144314
26 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh37 Chromosome 8, 97156542: 97156542
27 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh38 Chromosome 8, 96144295: 96144295
28 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh37 Chromosome 8, 97156523: 97156523
29 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh37 Chromosome 8, 97156516: 97156523
30 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh38 Chromosome 8, 96144288: 96144295
31 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh37 Chromosome 8, 97156515: 97156515
32 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh38 Chromosome 8, 96144287: 96144287
33 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh38 Chromosome 8, 96144283: 96144283
34 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh37 Chromosome 8, 97156511: 97156511
35 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh38 Chromosome 8, 96144183: 96144183
36 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh37 Chromosome 8, 97156411: 97156411
37 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh38 Chromosome 8, 96143986: 96143986
38 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh37 Chromosome 8, 97156214: 97156214
39 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh38 Chromosome 8, 96143796: 96143796
40 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh37 Chromosome 8, 97156024: 97156024
41 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh38 Chromosome 8, 96142393: 96142393
42 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh37 Chromosome 8, 97154621: 97154621
43 GDF6 NM_001001557.3(GDF6): c.*2195C> T single nucleotide variant Likely benign rs114060293 GRCh38 Chromosome 8, 96142368: 96142368
44 GDF6 NM_001001557.3(GDF6): c.*2195C> T single nucleotide variant Likely benign rs114060293 GRCh37 Chromosome 8, 97154596: 97154596
45 GDF6 NM_001001557.3(GDF6): c.*2216C> T single nucleotide variant Benign rs7003079 GRCh38 Chromosome 8, 96142347: 96142347
46 GDF6 NM_001001557.3(GDF6): c.*2216C> T single nucleotide variant Benign rs7003079 GRCh37 Chromosome 8, 97154575: 97154575
47 GDF6 NM_001001557.3(GDF6): c.356A> G (p.Gln119Arg) single nucleotide variant Likely benign rs140579014 GRCh38 Chromosome 8, 96160337: 96160337
48 GDF6 NM_001001557.3(GDF6): c.356A> G (p.Gln119Arg) single nucleotide variant Likely benign rs140579014 GRCh37 Chromosome 8, 97172565: 97172565
49 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh38 Chromosome 8, 96145189: 96145189
50 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh37 Chromosome 8, 97157417: 97157417

Expression for Klippel-Feil Syndrome

Search GEO for disease gene expression data for Klippel-Feil Syndrome.

Pathways for Klippel-Feil Syndrome

Pathways related to Klippel-Feil Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Klippel-Feil Syndrome

Biological processes related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.49 GDF3 PAX1
2 BMP signaling pathway GO:0030509 9.48 GDF3 GDF6
3 cell development GO:0048468 9.46 GDF3 GDF6
4 regulation of MAPK cascade GO:0043408 9.43 GDF3 GDF6
5 SMAD protein signal transduction GO:0060395 9.4 GDF3 GDF6
6 somitogenesis GO:0001756 9.37 PAX1 RIPPLY2
7 multicellular organism development GO:0007275 9.35 GDF3 GDF6 MEOX1 PAX1 RIPPLY2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 GDF3 GDF6
9 bone morphogenesis GO:0060349 9.26 PAX1 RIPPLY2
10 somite rostral/caudal axis specification GO:0032525 9.16 GDF3 RIPPLY2
11 sclerotome development GO:0061056 8.62 MEOX1 PAX1

Molecular functions related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 GDF3 GDF6
2 transforming growth factor beta receptor binding GO:0005160 8.62 GDF3 GDF6

Sources for Klippel-Feil Syndrome

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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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