MCID: KLP003
MIFTS: 46

Klippel-Feil Syndrome

Categories: Rare diseases, Ear diseases, Genetic 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
Kfs 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10426
ICD10 33 Q76.1
ICD9CM 35 756.16
MeSH 44 D007714
NCIt 50 C98967
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 cervical vertebra, bone and spinal cord, and related phenotypes are growth/size/body region and embryo

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.

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.

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.

Wikipedia : 76 Klippel–Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil... 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 116)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 2, autosomal recessive 33.2 MEOX1 RIPPLY2
2 isolated klippel-feil syndrome 32.5 GDF3 GDF6 MEOX1
3 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.7
4 klippel-feil syndrome 3, autosomal dominant 12.7
5 klippel-feil syndrome 1, autosomal dominant 12.7
6 frontonasal dysplasia klippel feil syndrome 12.2
7 sprengel deformity 11.6
8 cardiospondylocarpofacial syndrome 11.5
9 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.5
10 murcs association 11.5
11 segmentation syndrome 1 11.2
12 mental retardation, skeletal dysplasia, and abducens palsy 11.2
13 cervicitis 10.8
14 dermoid cyst 10.5
15 diastematomyelia 10.3
16 situs inversus 10.3
17 cleft palate, isolated 10.3
18 scoliosis 10.3
19 thoracic outlet syndrome 10.2
20 schizophrenia 10.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
22 hydrocephalus 10.2
23 quadriplegia 10.2
24 syringomyelia 10.2
25 type i 10.2
26 neural tube defects 10.1
27 renal hypodysplasia/aplasia 1 10.1
28 pierre robin syndrome 10.1
29 craniosynostosis 10.1
30 meningocele 10.1
31 respiratory failure 10.1
32 ankylosis 10.1
33 teratoma 10.1
34 meningitis 10.1
35 aortic coarctation 10.1
36 isolated pierre robin sequence 10.1
37 aneurysm 10.1
38 neurenteric cyst 10.1
39 amyotrophic lateral sclerosis 1 9.9
40 atrial standstill 1 9.9
41 cervical rib 9.9
42 coarctation of aorta 9.9
43 fibrodysplasia ossificans progressiva 9.9
44 frontonasal dysplasia 1 9.9
45 hernia, hiatus 9.9
46 macroglossia 9.9
47 palatopharyngeal incompetence 9.9
48 proteus syndrome 9.9
49 rheumatoid arthritis 9.9
50 down syndrome 9.9

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 MYO18B PAX1 RIPPLY2 MEOX1
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 Prospective Follow-up Study of Titanium-Coated PEEK Cages for Degenerative Disc Disease Recruiting NCT03565224
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 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

The Foundational Model of Anatomy Ontology organs/tissues related to Klippel-Feil Syndrome:

19
Cervical Vertebra

MalaCards organs/tissues related to Klippel-Feil Syndrome:

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

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 375)
# Title Authors Year
1
A Case of Intrathoracic Carotid Bifurcation Without Klippel-Feil Syndrome. ( 28967590 )
2018
2
Anomalous vertebral arteries in Klippel-Feil syndrome with occipitalized atlas: CT angiography. ( 29904491 )
2018
3
Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children. ( 29372238 )
2018
4
Concomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel-Feil Syndrome: A Case Report. ( 29763351 )
2018
5
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. ( 29492320 )
2018
6
Sedation in a child with Klippel-Feil syndrome scheduled for magnetic resonance imaging. ( 29619791 )
2018
7
Dexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome. ( 29887292 )
2018
8
The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. ( 29886918 )
2018
9
Klippel Feil Syndrome ( 29630209 )
2018
10
"Sandwich Deformity" in Klippel-Feil syndrome: A "Full-Spectrum" presentation of associated craniovertebral junction abnormalities. ( 29731280 )
2018
11
Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome. ( 28387188 )
2017
12
Endoscopic third ventriculostomy for hydrocephalus in a patient with Klippel-Feil syndrome: a case report. ( 28781856 )
2017
13
Anesthetic Management for Twice in a Child with Klippel-Feil Syndrome. ( 29693948 )
2017
14
Unicornuate Uterus in Klippel Feil Syndrome. ( 28410901 )
2017
15
Lateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report. ( 29137102 )
2017
16
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome: Erratum. ( 28199244 )
2017
17
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
18
Klippel-Feil syndrome: Interchange of Plan A and B for airway management in the same patient under different circumstances. ( 28250492 )
2017
19
Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report. ( 28357553 )
2017
20
Cervical Deformity and Potential Difficult Airway Management in Klippel-Feil Syndrome. ( 29194060 )
2017
21
Endoscopic Resection of Skull Base Teratoma in Klippel-Feil Syndrome through Use of Combined Ultrasonic and Bipolar Diathermy Platforms. ( 28133560 )
2017
22
The Crossed Flexor Plantar Response in Patients with Klippel-Feil Syndrome. ( 28626413 )
2017
23
Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. ( 26990409 )
2016
24
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
25
A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. ( 27162441 )
2016
26
A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome. ( 27390547 )
2016
27
Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report. ( 27673225 )
2016
28
Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome. ( 27539778 )
2016
29
Airway management in newborn with Klippel-Feil syndrome. ( 27591474 )
2016
30
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
31
The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. ( 27444288 )
2016
32
Arterial thoracic outlet syndrome in Klippel-Feil syndrome. ( 26909867 )
2016
33
Large ovarian cystadenofibroma causing large bowel obstruction in a patient with Klippel-Feil syndrome-A case report. ( 26780471 )
2016
34
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
35
Klippel-Feil syndrome with butterfly vertebrae: rare case. ( 27032897 )
2016
36
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
37
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
38
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
39
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome. ( 27301052 )
2016
40
Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. ( 26096264 )
2015
41
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
42
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ( 26238661 )
2015
43
A rare case of Klippel-Feil syndrome associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and spina bifida. ( 26259886 )
2015
44
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. ( 25806098 )
2015
45
Congenital cervical vertebrae clefts in Klippel-Feil syndrome. ( 25724430 )
2015
46
Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion. ( 25937113 )
2015
47
Prevalence of Klippel-Feil Syndrome in a Surgical Series of Patients with Cervical Spondylotic Myelopathy: Analysis of the Prospective, Multicenter AOSpine North America Study. ( 26225278 )
2015
48
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature. ( 26438353 )
2015
49
The success of direct laryngoscopy in children with Klippel-Feil syndrome. ( 26381356 )
2015
50
Klippel-feil syndrome and unilateral diaphragmatic paralysis. ( 25834691 )
2015

Variations for Klippel-Feil Syndrome

ClinVar genetic disease variations for Klippel-Feil Syndrome:

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
2 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
3 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
4 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
5 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh38 Chromosome 8, 96144283: 96144283
6 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh37 Chromosome 8, 97154621: 97154621
7 GDF6 NM_001001557.3(GDF6): c.*2170A> C single nucleotide variant Likely benign rs141085775 GRCh38 Chromosome 8, 96142393: 96142393
8 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh37 Chromosome 8, 97156024: 97156024
9 GDF6 NM_001001557.3(GDF6): c.*767T> C single nucleotide variant Likely benign rs569599062 GRCh38 Chromosome 8, 96143796: 96143796
10 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh37 Chromosome 8, 97156214: 97156214
11 GDF6 NM_001001557.3(GDF6): c.*577A> T single nucleotide variant Likely benign rs75587676 GRCh38 Chromosome 8, 96143986: 96143986
12 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh37 Chromosome 8, 97156411: 97156411
13 GDF6 NM_001001557.3(GDF6): c.*380A> G single nucleotide variant Benign rs2440199 GRCh38 Chromosome 8, 96144183: 96144183
14 GDF6 NM_001001557.3(GDF6): c.*280T> C single nucleotide variant Uncertain significance rs886063202 GRCh37 Chromosome 8, 97156511: 97156511
15 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh38 Chromosome 8, 96144287: 96144287
16 GDF6 NM_001001557.3(GDF6): c.*276T> C single nucleotide variant Uncertain significance rs886063204 GRCh37 Chromosome 8, 97156515: 97156515
17 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh37 Chromosome 8, 97156516: 97156523
18 GDF6 NM_001001557.3(GDF6): c.*268_*275delGTTTTCTCinsCTTT indel Uncertain significance rs886063205 GRCh38 Chromosome 8, 96144288: 96144295
19 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh38 Chromosome 8, 96144627: 96144627
20 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh37 Chromosome 8, 97156523: 97156523
21 GDF6 NM_001001557.3(GDF6): c.*268G> C single nucleotide variant Uncertain significance rs575001243 GRCh38 Chromosome 8, 96144295: 96144295
22 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh38 Chromosome 8, 96144314: 96144314
23 GDF6 NM_001001557.3(GDF6): c.*249G> A single nucleotide variant Uncertain significance rs886063206 GRCh37 Chromosome 8, 97156542: 97156542
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.*172A> G single nucleotide variant Likely benign rs115207215 GRCh38 Chromosome 8, 96144391: 96144391
26 GDF6 NM_001001557.3(GDF6): c.1304C> T (p.Ala435Val) single nucleotide variant Uncertain significance rs140782427 GRCh37 Chromosome 8, 97156855: 97156855
27 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh37 Chromosome 8, 97154790: 97154790
28 GDF6 NM_001001557.3(GDF6): c.*2001A> G single nucleotide variant Likely benign rs36028712 GRCh38 Chromosome 8, 96142562: 96142562
29 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh37 Chromosome 8, 97155361: 97155362
30 GDF6 NM_001001557.3(GDF6): c.*1429_*1430delAG deletion Likely benign rs139734303 GRCh38 Chromosome 8, 96143133: 96143134
31 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh38 Chromosome 8, 96143473: 96143473
32 GDF6 NM_001001557.3(GDF6): c.*1090G> C single nucleotide variant Likely benign rs80085212 GRCh37 Chromosome 8, 97155701: 97155701
33 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh37 Chromosome 8, 97155707: 97155707
34 GDF6 NM_001001557.3(GDF6): c.*1084C> A single nucleotide variant Likely benign rs77181285 GRCh38 Chromosome 8, 96143479: 96143479
35 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh37 Chromosome 8, 97155949: 97155949
36 GDF6 NM_001001557.3(GDF6): c.*842T> C single nucleotide variant Likely benign rs192657480 GRCh38 Chromosome 8, 96143721: 96143721
37 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh37 Chromosome 8, 97156010: 97156010
38 GDF6 NM_001001557.3(GDF6): c.*781G> A single nucleotide variant Likely benign rs528002823 GRCh38 Chromosome 8, 96143782: 96143782
39 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh37 Chromosome 8, 97156470: 97156471
40 GDF6 NM_001001557.3(GDF6): c.*320_*321insCTTT insertion Uncertain significance rs886063199 GRCh38 Chromosome 8, 96144242: 96144243
41 GDF6 NM_001001557.3(GDF6): c.*272_*278delTCTCTCT deletion Uncertain significance rs886063203 GRCh38 Chromosome 8, 96144285: 96144291
42 GDF6 NM_001001557.3(GDF6): c.*272_*278delTCTCTCT deletion Uncertain significance rs886063203 GRCh37 Chromosome 8, 97156513: 97156519
43 GDF6 NM_001001557.3(GDF6): c.*28G> A single nucleotide variant Likely benign rs367847329 GRCh37 Chromosome 8, 97156763: 97156763
44 GDF6 NM_001001557.3(GDF6): c.*28G> A single nucleotide variant Likely benign rs367847329 GRCh38 Chromosome 8, 96144535: 96144535
45 GDF6 NM_001001557.3(GDF6): c.870C> T (p.Phe290=) single nucleotide variant Uncertain significance rs765928590 GRCh37 Chromosome 8, 97157289: 97157289
46 GDF6 NM_001001557.3(GDF6): c.870C> T (p.Phe290=) single nucleotide variant Uncertain significance rs765928590 GRCh38 Chromosome 8, 96145061: 96145061
47 GDF6 NM_001001557.3(GDF6): c.852C> G (p.Ser284=) single nucleotide variant Likely benign rs74498875 GRCh37 Chromosome 8, 97157307: 97157307
48 GDF6 NM_001001557.3(GDF6): c.852C> G (p.Ser284=) single nucleotide variant Likely benign rs74498875 GRCh38 Chromosome 8, 96145079: 96145079
49 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh37 Chromosome 8, 97157417: 97157417
50 GDF6 NM_001001557.3(GDF6): c.742C> A (p.Arg248Ser) single nucleotide variant Likely benign rs750809706 GRCh38 Chromosome 8, 96145189: 96145189

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 SMAD protein signal transduction GO:0060395 9.46 GDF3 GDF6
4 cell development GO:0048468 9.43 GDF3 GDF6
5 regulation of MAPK cascade GO:0043408 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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