KFS
MCID: KLP003
MIFTS: 47

Klippel-Feil Syndrome (KFS)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome

MalaCards integrated aliases for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 12 73 43 53 36 44 15 32
Klippel Feil Syndrome 20 29 6
Congenital Dystrophia Brevicollis 12 43
Cervical Vertebral Fusion 20 43
Klippel-Feil Deformity, Deafness and Facial Asymmetry 12
Congenital Synostosis of Cervical Vertebrae 12
Klippel-Feil Syndrome, Autosomal Dominant 70
Autosomal Dominant Klippel-Feil Syndrome 12
Cervical Vertebral Fusion Syndrome 43
Vertebral Cervical Fusion Syndrome 43
Klippel-Feil and Turner Syndrome 12
Dystrophia Brevicollis Congenita 43
Fusion of Cervical Vertebrae 43
Cervical Fusion Syndrome 43
Klippel-Feil Deformity 43
Klippel-Feil Sequence 43
Kfs 43

Classifications:



External Ids:

Disease Ontology 12 DOID:10426
KEGG 36 H00852
ICD9CM 34 756.16
MeSH 44 D007714
NCIt 50 C98967
SNOMED-CT 67 268349005
ICD10 32 Q76.1
UMLS 70 C0022738 C1861689

Summaries for Klippel-Feil Syndrome

MedlinePlus Genetics : 43 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.In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.

MalaCards based summary : Klippel-Feil Syndrome, also known as klippel feil syndrome, is related to klippel-feil syndrome 2, autosomal recessive and klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism. An important gene associated with Klippel-Feil Syndrome is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are TGF-beta signaling pathway and Mesodermal Commitment Pathway. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and eye, and related phenotypes are embryo and growth/size/body region

Disease Ontology : 12 A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

GARD : 20 Klippel Feil syndrome (KFS) is a condition affecting the development of the bones in the spine. People with KFS are born with abnormal fusion of at least two spinal bones (vertebrae) in the neck. Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. Some people with KFS have no symptoms. Others may have frequent headaches, back and neck pain, and other nerve issues. People with KFS are at risk for severe spinal injury. KFS can occur along with other types of birth defects, and sometimes KFS occurs as a feature of another disorder or syndrome. The cause of most cases of KFS is unknown, but sometimes it is caused by genetic alterations ( mutations ) in one of several different genes. This condition is diagnosed based on a clinical examination, the symptoms, and imaging studies. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.

NINDS : 53 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.

KEGG : 36 Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.

Wikipedia : 73 Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital... 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 Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

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

(show top 50) (show all 238)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 2, autosomal recessive 33.2 RIPPLY2 MYO18B MEOX1
2 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 33.2 MYO18B-AS1 MYO18B
3 klippel-feil syndrome 1, autosomal dominant 33.1 MYO18B LRRK2 GDF6
4 klippel-feil syndrome 4 32.8 MYO18B-AS1 MYO18B
5 klippel-feil syndrome 1 32.2 LRRK2 GDF6 GDF5
6 isolated klippel-feil syndrome 32.0 RIPPLY2 MEOX1 LRRK2 GDF6 GDF3
7 syringomyelia 31.1 GDF6 GDF3
8 meningocele 30.7 MESP2 HES7
9 cleft palate, isolated 30.6 RPS26 PAX9 PAX1 GDF6
10 dysostosis 30.3 TBX6 RIPPLY2 MESP2 LFNG HES7 GDF5
11 coloboma of macula 30.0 KIR2DS4 GDF6 GDF3
12 leber congenital amaurosis 17 30.0 GDF6 GDF5
13 microphthalmia, isolated 4 30.0 GDF6 GDF5
14 spina bifida occulta 30.0 PAX1 MESP2 HES7 GDF6 GDF3
15 scoliosis 29.6 TBX6 ROBO3 RIPPLY2 PAX1 MESP2 LFNG
16 spondylocostal dysostosis, autosomal recessive 29.6 TBX6 RIPPLY2 MESP2 LFNG HES7
17 sacral defect with anterior meningocele 29.4 TBX6 MESP2 LFNG HES7
18 klippel-feil syndrome 3, autosomal dominant 11.9
19 cardiospondylocarpofacial syndrome 11.7
20 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.6
21 klippel-feil syndrome 3 11.5
22 x-linked skeletal dysplasia-intellectual disability syndrome 11.4
23 sprengel deformity 11.3
24 frontonasal dysplasia klippel feil syndrome 11.3
25 segmentation syndrome 1 11.3
26 branchiootic syndrome 1 10.6
27 neural tube defects 10.6
28 benign teratoma 10.6
29 synostosis 10.6
30 cystic teratoma 10.6
31 mature teratoma 10.6
32 syringomyelia, noncommunicating isolated 10.5
33 diastematomyelia 10.5
34 situs inversus 10.5
35 cervical rib 10.4
36 renal hypodysplasia/aplasia 1 10.4
37 hydrocephalus 10.4
38 chiari malformation 10.4
39 coarctation of aorta 10.4
40 myelomeningocele 10.4
41 quadriplegia 10.4
42 radiculopathy 10.4
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
44 respiratory failure 10.3
45 ankylosis 10.3
46 thoracic outlet syndrome 10.3
47 encephalocele 10.3
48 microtia 10.3
49 microphthalmia, isolated, with coloboma 6 10.3 GDF6 GDF3
50 amyotrophic lateral sclerosis 1 10.3

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 embryo MP:0005380 10.15 BAZ1B GDF3 GDF5 HES7 LFNG MEOX1
2 growth/size/body region MP:0005378 10.1 BAZ1B GDF3 GDF5 GDF6 HES7 LFNG
3 mortality/aging MP:0010768 10.03 BAZ1B GDF3 GDF5 GDF6 HES7 LFNG
4 limbs/digits/tail MP:0005371 9.96 GDF5 GDF6 HES7 LFNG MEOX1 MESP2
5 muscle MP:0005369 9.5 BAZ1B MEOX1 MESP2 MYO18B PAX1 PAX9
6 skeleton MP:0005390 9.4 BAZ1B GDF5 GDF6 HES7 LFNG LRRK2

Drugs & Therapeutics for Klippel-Feil Syndrome

Drugs for Klippel-Feil Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
3 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Follow-up Study of CeSPACE XP - Titanium Coated PEEK Cages - for the Treatment of Degenerative Cervical Disc Disease Completed NCT03565224
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 A Multi-Center, Open-Label, Prospective Study of CervicalStim Device™ as Adjunctive Care Following Cervical Fusion Active, not recruiting NCT03177473
4 Airway Management of Pediatric Patients With Klippel-Feil Syndrome Active, not recruiting NCT03741790

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:

40
Spinal Cord, Bone, Eye, Heart, Kidney, Uterus, Brain

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 772)
# Title Authors PMID Year
1
Rare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome. 61
33737271 2021
2
Prenatal diagnosis of Sprengel's deformity in a patient with Klippel-Feil Syndrome. 61
33756309 2021
3
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. 61
33663658 2021
4
Endoscopic Endonasal Transclival Odontoidectomy for Basilar Invagination: Operative Video and Technical Nuances. 61
33717805 2021
5
Sprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report. 61
33220477 2021
6
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. 61
33179433 2021
7
Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome. 61
33708882 2021
8
Surgical treatment of a complex craniocervical malformation combined with posterior cranial fossa teratoma: a case report and literature review. 61
33461616 2021
9
Cervical myelopathy in a child with Sprengel shoulder and Klippel-Feil syndrome. 61
32749619 2021
10
Cervical myelopathy secondary to omovertebral bone in the pediatric patient with Sprengel deformity. 61
33530049 2021
11
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 61
33276377 2020
12
Letter to the Editor Regarding "Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome". 61
33227858 2020
13
In Reply to the Letter to the Editor Regarding "Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome". 61
33227859 2020
14
Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome. 61
32652274 2020
15
GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth. 61
33147457 2020
16
Occipital Plate Fixation in the Pediatric Population. 61
32301850 2020
17
Central sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome. 61
32620190 2020
18
Modified Woodward's procedure confers functional improvement in Sprengel's deformity. 61
33136795 2020
19
Omovertebral bone causing traumatic compression of the cervical spinal cord and acute neurological deficits in a patient with Sprengel's deformity and Klippel-Feil syndrome: case report. 61
32977313 2020
20
Surgical Treatment for Central Sleep Apnea due to Occipitocervical Compression Myelopathy in a Patient with Klippel-Feil Syndrome. 61
32553602 2020
21
Intervertebral Disc Calcification and Klippel-Feil Syndrome. 61
33088418 2020
22
Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature. 61
32339744 2020
23
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. 61
32212228 2020
24
Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment. 61
31923127 2020
25
Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report. 61
32617481 2020
26
Cervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review. 61
32351029 2020
27
Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion. 61
32459778 2020
28
Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome. 61
31931249 2020
29
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome. 61
32278351 2020
30
Intrathoracic bifurcation of the left common carotid artery associated with rib fusion and Klippel-Feil syndrome. 61
31531710 2020
31
Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report. 61
30028777 2020
32
Letter to the editor concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265]. 61
31773276 2020
33
Answer to the Letter to the Editor of B. Hu et al. concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265]. 61
31773274 2020
34
Letter to the Editor. Klippel-Feil syndrome. 61
32109868 2020
35
A New Method for Assessment of Upright Posture Intolerance. 61
32071672 2020
36
Fracture-Dislocation of the Cervical Spine Secondary to Low-Impact Trauma in a Patient with Klippel-Feil Syndrome: A Case Report. 61
32039303 2020
37
Klippel-Feil syndrome: a review of the literature. 61
31577545 2020
38
Two-level cervical disc arthroplasty in patients with Klippel-Feil syndrome: A case report and review of the literature. 61
33093999 2020
39
Papillary Lesions of the Male Breast: A Study of 117 Cases and Brief Review of the Literature Demonstrate a Broad Clinicopathologic Spectrum. 61
31403965 2020
40
Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. 61
31835254 2019
41
Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. 61
31363914 2019
42
Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism. 61
31723672 2019
43
Imaging of Thoracic Wall Abnormalities. 61
31544369 2019
44
Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia. 61
31295597 2019
45
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review. 61
31214770 2019
46
Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging. 61
31246314 2019
47
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. 61
31195167 2019
48
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019
49
Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation. 61
31101983 2019
50
Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends. 61
31772424 2019

Variations for Klippel-Feil Syndrome

ClinVar genetic disease variations for Klippel-Feil Syndrome:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) Duplication Likely pathogenic 634522 rs1569172839 GRCh37: 22:26299683-26299684
GRCh38: 22:25903716-25903717
2 GDF6 NM_001001557.4(GDF6):c.*271_*272insCTC Insertion Uncertain significance 364034 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
3 GDF6 NM_001001557.4(GDF6):c.*320_*321insCTTT Insertion Uncertain significance 364026 rs886063199 GRCh37: 8:97156470-97156471
GRCh38: 8:96144242-96144243
4 GDF6 NM_001001557.4(GDF6):c.*268_*275delinsCTTT Indel Uncertain significance 364032 rs886063205 GRCh37: 8:97156516-97156523
GRCh38: 8:96144288-96144295
5 GDF6 NM_001001557.4(GDF6):c.*322_*323insTT Insertion Uncertain significance 364024 rs886063197 GRCh37: 8:97156468-97156469
GRCh38: 8:96144240-96144241
6 GDF6 NM_001001557.4(GDF6):c.*273_*274CT[20] Microsatellite Uncertain significance 364027 rs71275339 GRCh37: 8:97156473-97156478
GRCh38: 8:96144245-96144250
7 GDF6 NM_001001557.4(GDF6):c.*272_*278del Deletion Uncertain significance 364030 rs886063203 GRCh37: 8:97156513-97156519
GRCh38: 8:96144285-96144291
8 GDF6 NM_001001557.4(GDF6):c.*271_*272insC Insertion Uncertain significance 364033 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
9 GDF6 NM_001001557.4(GDF6):c.*321_*322del Deletion Uncertain significance 364025 rs886063198 GRCh37: 8:97156469-97156470
GRCh38: 8:96144241-96144242
10 MYO18B NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) SNV Likely benign 587504 rs1568989210 GRCh37: 22:26164619-26164619
GRCh38: 22:25768652-25768652
11 GDF6 NM_001001557.4(GDF6):c.*1429_*1430del Deletion Likely benign 364012 rs139734303 GRCh37: 8:97155361-97155362
GRCh38: 8:96143133-96143134
12 GDF6 NM_001001557.3(GDF6):c.*2243G>C SNV Likely benign 369618 rs142786788 GRCh37: 8:97154548-97154548
GRCh38: 8:96142320-96142320
13 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Likely benign 8373 rs121909353 GRCh37: 8:97156888-97156888
GRCh38: 8:96144660-96144660
14 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Likely benign 8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185

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:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 TBX6 PAX9 HES7 GDF3
2 10.06 TBX6 RIPPLY2 MESP2 LFNG HES7

GO Terms for Klippel-Feil Syndrome

Cellular components related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.1 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.05 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7
2 skeletal system development GO:0001501 9.7 PAX1 HES7 GDF3
3 Notch signaling pathway GO:0007219 9.65 RIPPLY2 MESP2 HES7
4 BMP signaling pathway GO:0030509 9.61 GDF6 GDF5 GDF3
5 SMAD protein signal transduction GO:0060395 9.58 GDF6 GDF5 GDF3
6 embryonic pattern specification GO:0009880 9.54 RIPPLY2 RIPPLY1
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.5 GDF6 GDF5 GDF3
8 positive regulation of chondrocyte differentiation GO:0032332 9.49 GDF6 GDF5
9 post-anal tail morphogenesis GO:0036342 9.46 RIPPLY2 HES7
10 somitogenesis GO:0001756 9.46 RIPPLY2 PAX1 LFNG HES7
11 multicellular organism development GO:0007275 9.4 TBX6 ROBO3 RIPPLY2 RIPPLY1 PAX9 PAX1
12 somite specification GO:0001757 9.37 RIPPLY1 MEOX1
13 sclerotome development GO:0061056 9.26 PAX1 MEOX1
14 somite rostral/caudal axis specification GO:0032525 9.26 TBX6 RIPPLY2 RIPPLY1 MESP2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7
3 growth factor activity GO:0008083 9.5 GDF6 GDF5 GDF3
4 DNA-binding transcription factor activity GO:0003700 9.35 TBX6 PAX9 PAX1 MESP2 MEOX1
5 sequence-specific double-stranded DNA binding GO:1990837 9.1 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7

Sources for Klippel-Feil Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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