STLS
MCID: STL007
MIFTS: 42

Steel Syndrome (STLS)

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

Aliases & Classifications for Steel Syndrome

MalaCards integrated aliases for Steel Syndrome:

Name: Steel Syndrome 57 58 72 36 29 6 70
Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, and Short Stature 57 72
Stls 57 72
Bilateral Hip and Radial Head Dislocations-Short Stature-Scoliosis-Carpal Coalitions-Pes Cavus-Facial Dysmorphism Syndrome 58
Hip Dislocation 44
Syndrome, Steel 39

Characteristics:

Orphanet epidemiological data:

58
steel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
steel syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 615155
KEGG 36 H02300
ICD10 32 S73.0
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA438117
UMLS 70 C3554594

Summaries for Steel Syndrome

KEGG : 36 Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been reported mutations in COL27A1 is responsible for Steel syndrome. COL27A1 encodes the pro-alpha chain of fibrillar collagen type XXVII. It has been suggested that COL27A1 may play an important role during cartilage mineralization.

MalaCards based summary : Steel Syndrome, also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature, is related to dwarfism, proportionate, with hip dislocation and ehlers-danlos syndrome, arthrochalasia type, 1. An important gene associated with Steel Syndrome is COL27A1 (Collagen Type XXVII Alpha 1 Chain). The drugs Clonidine and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and prostate, and related phenotypes are global developmental delay and sensorineural hearing impairment

OMIM® : 57 Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010). (615155) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Steel syndrome: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge.

Related Diseases for Steel Syndrome

Diseases related to Steel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 190)
# Related Disease Score Top Affiliating Genes
1 dwarfism, proportionate, with hip dislocation 11.4
2 ehlers-danlos syndrome, arthrochalasia type, 1 11.2
3 cutis laxa, autosomal recessive, type ia 11.2
4 uruguay faciocardiomusculoskeletal syndrome 11.2
5 wieacker-wolff syndrome 11.2
6 ehlers-danlos syndrome, arthrochalasia type, 2 11.2
7 arthrochalasia ehlers-danlos syndrome 11.2
8 beukes hip dysplasia 11.2
9 central core disease of muscle 11.1
10 larsen syndrome 11.1
11 cyprus facial neuromusculoskeletal syndrome 11.0
12 ectodermal dysplasia, trichoodontoonychial type 11.0
13 joint laxity, familial 11.0
14 microphthalmia with limb anomalies 11.0
15 camptodactyly syndrome, guadalajara, type ii 11.0
16 cerebellar hypoplasia with endosteal sclerosis 11.0
17 geroderma osteodysplasticum 11.0
18 ulna and fibula, absence of, with severe limb deficiency 11.0
19 delpire-mcneill syndrome 11.0
20 autosomal recessive cutis laxa type i 11.0
21 deaf1-associated disorders 11.0
22 avascular necrosis 10.9
23 cerebral palsy 10.7
24 osteonecrosis 10.6
25 developmental dysplasia of the hip 1 10.5
26 slipped capital femoral epiphysis 10.5
27 hip subluxation 10.4
28 legg-calve-perthes disease 10.4
29 osteochondrosis 10.4
30 down syndrome 10.4
31 osteochondritis dissecans 10.3
32 congenital amyoplasia 10.3
33 spastic cerebral palsy 10.3
34 distal arthrogryposis 10.2
35 septic arthritis 10.2
36 osteoarthritis 10.2
37 arthritis 10.2
38 spasticity 10.2
39 neural tube defects 10.2
40 osteomyelitis 10.2
41 spastic quadriplegia 10.2
42 plica syndrome 10.2
43 synovitis 10.2
44 neurofibromatosis 10.2
45 back pain 10.2
46 scoliosis 10.1
47 coxa vara 10.1
48 kabuki syndrome 1 10.1
49 torticollis 10.1
50 pain agnosia 10.1

Graphical network of the top 20 diseases related to Steel Syndrome:



Diseases related to Steel Syndrome

Symptoms & Phenotypes for Steel Syndrome

Human phenotypes related to Steel Syndrome:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 sensorineural hearing impairment 31 very rare (1%) HP:0000407
3 scoliosis 31 HP:0002650
4 hypertelorism 31 HP:0000316
5 wide nasal bridge 31 HP:0000431
6 short stature 31 HP:0004322
7 prominent forehead 31 HP:0011220
8 dislocated radial head 31 HP:0003083

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
cervical spine anomalies

Growth Height:
short stature

Head And Neck Nose:
broad nasal bridge

Neurologic Central Nervous System:
developmental delay (in some patients)

Skeletal Limbs:
dislocated radial heads

Skeletal Feet:
bilateral talipes cavus

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
long, oval-shaped face

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Skeletal Pelvis:
congenital hip dislocations, resistant to surgical treatment

Skeletal Hands:
carpal coalition (fusion of carpal bones)

Clinical features from OMIM®:

615155 (Updated 05-Apr-2021)

Drugs & Therapeutics for Steel Syndrome

Drugs for Steel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8 Sodium Chloride Symporter Inhibitors Phase 4
9 diuretics Phase 4
10 Antihypertensive Agents Phase 4
11 Sympatholytics Phase 4
12 Gastrointestinal Agents Phase 4
13 Antiemetics Phase 4
14 Hormone Antagonists Phase 4
15 glucocorticoids Phase 4
16 Hormones Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Gentamicins Phase 4
19 Anesthetics Phase 4
20 Anesthetics, Local Phase 4
21 Anti-Asthmatic Agents Phase 4
22 Respiratory System Agents Phase 4
23 Vasoconstrictor Agents Phase 4
24 Epinephryl borate Phase 4
25 Adrenergic alpha-Agonists Phase 4
26 Adrenergic beta-Agonists Phase 4
27 Adrenergic Agents Phase 4
28 Sympathomimetics Phase 4
29 Neurotransmitter Agents Phase 4
30 Analgesics Phase 4
31 Mydriatics Phase 4
32 Adrenergic Agonists Phase 4
33 Bronchodilator Agents Phase 4
34 Pharmaceutical Solutions Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Cyclooxygenase Inhibitors Phase 4
38 Antirheumatic Agents Phase 4
39 Anti-Inflammatory Agents, Non-Steroidal Phase 4
40
tannic acid Approved 1401-55-4
41
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
42
Tranexamic Acid Approved 1197-18-8 5526
43
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
44
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
45
Acetaminophen Approved 103-90-2 1983
46 Polymethyl Methacrylate
47 Coagulants
48 Antifibrinolytic Agents
49 Hemostatics
50
Ethylene 74-85-1 6325

Interventional clinical trials:

(show top 50) (show all 130)
# Name Status NCT ID Phase Drugs
1 Prospective Double-blind Randomized Clinical Trial Comparing Gait Analysis and Clinical Function After Metal on Metal Total Hip Arthroplasty With Large Diameter Femoral Head and Metal on Metal Total Hip Resurfacing. Completed NCT04516239 Phase 4
2 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 Phase 4
3 Reduction of Hip Arthroscopy Post-operative Pain Using Ultrasound-guided Fascia-iliaca Block Completed NCT02365961 Phase 4 ropivicaine;clonidine;Epinephrine;Noropin
4 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Periacetabular (GANZ) Osteotomy Completed NCT03161938 Phase 4 Dexamethasone
5 A Prospective, Randomised, Uncontrolled, Single-Centre, Post-Market Surveillance Study To Evaluate The Performance Of SmartSet® HV and SmartSet® GHV Bone Cements In Primary Cemented Total Hip Arthroplasty(THA) Completed NCT00872066 Phase 4
6 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
7 Efficacy of a Peri-Operative Surgical-Site, Multimodal Drug Injection in Pediatric Patients With Cerebral Palsy Undergoing Hip Surgery: A Randomized Controlled Trial Recruiting NCT04074265 Phase 4 Ropivacaine injection;normal saline
8 Quadratus Lumborum vs Erector Spinae Supplementary Blocks With Lumbar Plexus Blocks for Hip PAO Recruiting NCT04481451 Phase 4 Ropivacaine
9 Dual Mobility Acetabular Cups in Revision TJA Recruiting NCT04090359 Phase 4
10 Dual-mobility vs. Single-bearing Components in THA at "High Risk" for Prosthetic Dislocation Recruiting NCT04092634 Phase 4
11 An Uncontrolled, Multi-Centre, Prospective, Post Marketing Surveillance Study to Monitor the Long Term Survivorship of the DePuy PROXIMA™ Hip in Subjects Requiring a Total Hip Replacement Terminated NCT00208455 Phase 4
12 Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy PROXIMA™ Hip in Subjects With Indications Suitable for a Primary Total Hip Arthroplasty Terminated NCT01134445 Phase 4
13 Prospective, Uncontrolled, Multi-Centre, Post-Marketing Surveillance Study to Evaluate the Long-Term Performance of Summit Tapered Hip in Cementless Total Hip Arthroplasty Terminated NCT00208390 Phase 4
14 Prospective Multi-Centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-Term Performance of the DePuy ASR Hip System in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00208377 Phase 4
15 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup Prosthesis With a Metal on Metal Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00208364 Phase 4
16 Randomised, Controlled, Prospective, Multi-Centre, Post Market Surveillance Study Comparing a Ceramic-on-Metal Bearing and a Metal-on-Metal Bearing in Subjects Requiring Primary Total Hip Arthroplasty for Non-Inflammatory Degenerative Joint Disease Terminated NCT00873444 Phase 4
17 Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of a Large Metal-on-Metal (MoM) Bearing Comprising a DePuy ASR™ Cup in Conjunction With Either a DePuy ASR™ Hip Resurfacing Femoral Component or a DePuy ASR™ XL Head in Subjects With Indications Suitable for Either a Primary Resurfacing Arthroplasty or Primary Total Hip Arthroplasty Terminated NCT00872547 Phase 4
18 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle™ Acetabular Cup Prosthesis With a Ceramic-on-ceramic Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00872222 Phase 4
19 Prospective Single-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy ASR™ Hip in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00872794 Phase 4
20 Prospective, Uncontrolled, Two-centre, RSA, Post-market Surveillance Study to Evaluate the Stability of the C-Stem™ AMT Femoral Component in Primary Total Hip Arthroplasty. Terminated NCT00872573 Phase 4
21 A Multi-centre, Prospective, Uncontrolled Post Market Clinical Follow-up Study (PMCFS) to Monitor the Survival and Performance of the DeltaMotion Cup System in Subjects Requiring a Total Hip Replacement Terminated NCT01635166 Phase 4
22 Multicenter Post Approval Study of the Trilogy AB(R) Acetabular System Terminated NCT00715026 Phase 4
23 DURALOC® Option Ceramic-on-Ceramic Hip Prosthesis System PMA Post-approval Study Terminated NCT00546598 Phase 4
24 A Randomized Multicentre Clinical Trial Comparing The Metal on Metal Hip System Versus The Metal on Highly Crossed Linked Polyethylene System Terminated NCT01422564 Phase 4
25 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup System With a Metal on Enduron Polyethylene Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
26 The Effect of Perioperative Dexamethasone Administration on Postoperative Pain in Patients Undergoing Periacetabular Osteotomy: A Randomised Double-blind, Placebo-controlled Trial Recruiting NCT03874936 Phase 2, Phase 3 Dexamethasone 24mg Solution for Injection;Saline Solution for Injection
27 A Multi-centre, Randomised, Parallel Group, Controlled Study to Compare the Performance of the Future Hip Against Three Currently Used Implants in Total Hip Replacement Terminated NCT00208468 Phase 3
28 Clinical and Radiographic Evaluation to Compare a Polished and Non-polished Collared Stem and a Polished and Non Polished Collarless Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
29 Full Repairing Versus Partial Repairing of Soft Tissue Surrounding the Hip Joint in Hip Arthroplasty for Femoral Neck Fractures Unknown status NCT02897440
30 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Unknown status NCT03541122
31 Soft Tissue Pathology in 100 Patients With Hip Dysplasia Before and After Periacetabular Osteotomy Unknown status NCT02311166
32 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
33 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Unknown status NCT02900482
34 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Unknown status NCT03193385
35 A Randomized Multi-Centre Controlled Trial of Large Diameter (36/40 mm) Versus Conventional Diameter (32 mm) Femoral Heads for the Prevention of Post Revision Arthroplasty Dislocation Unknown status NCT00175500
36 "True Incidence of Hip Dislocation After Primary THA - a Nationwide Population Study" Unknown status NCT03859791
37 Investigation of the Value of Femoral Shortening Osteotomy During Open Treatment of Developmental Dislocation of the Hip in Waliking Age Group Unknown status NCT02633904
38 Total Hip Replacement - MP-1 Acetabular Liner Unknown status NCT02503891
39 "Patient Reported Outcome After Dislocation of a Primary THA" Unknown status NCT03860025
40 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
41 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
42 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
43 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
44 Accuracy of Computer-assisted Template-based Implant Placement Using Conventional Impression and Scan Model or Digital Impression: a Randomized Controlled Trial Unknown status NCT03764176
45 Closure of Implant Emergence Profile Unknown status NCT03536156
46 A New Spinal Brace Design Concept for the Treatment of Adolescent Idiopathic Scoliosis Unknown status NCT03365804
47 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
48 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Completed NCT01193673
49 Erector Spinae Plane Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Completed NCT03949686 Saline Solution;Bupivacaine
50 Post Approval Study of the C2a-Taper™ Acetabular System Completed NCT00578851

Search NIH Clinical Center for Steel Syndrome

Cochrane evidence based reviews: hip dislocation

Genetic Tests for Steel Syndrome

Genetic tests related to Steel Syndrome:

# Genetic test Affiliating Genes
1 Steel Syndrome 29 COL27A1

Anatomical Context for Steel Syndrome

MalaCards organs/tissues related to Steel Syndrome:

40
Bone, Skin, Prostate, Eye, Colon, Kidney, Thyroid

Publications for Steel Syndrome

Articles related to Steel Syndrome:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 61 6 57
28276056 2017
2
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. 61 57 6
28322503 2017
3
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 61 6 57
24986830 2015
4
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. 57 6
28895531 2017
5
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. 61 6
31913554 2020
6
Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. 61 57
20357596 2010
7
A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children. 57
8423186 1993
8
A comprehensive review of anticancer mechanisms of action of Alantolactone. 61
33454597 2021
9
Measurement of Shear Wave Speed and Normalized Elastic Modulus of Human Skin with and without Dermal Striae Using Shear Wave Elastography. 61
33349514 2021
10
Spontaneous Tumor Lysis Syndrome: A Rare Presentation in Plasmablastic Lymphoma. 61
33643508 2021
11
Spontaneous tumour lysis syndrome in multiple myeloma with loss of 17p13.1, t(4;14) and monosomy 13. 61
33547114 2021
12
Are sesquiterpene lactones the elusive KARRIKIN-INSENSITIVE2 ligand? 61
33521891 2021
13
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities. 61
33359165 2021
14
Universality of the Triangular Theory of Love: Adaptation and Psychometric Properties of the Triangular Love Scale in 25 Countries. 61
32783568 2021
15
Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene. 61
33411029 2021
16
What dominates the changeable pharmacokinetics of natural sesquiterpene lactones and diterpene lactones: a review focusing on absorption and metabolism. 61
33211987 2020
17
Butyrate-containing structured lipids inhibit RAC1 and epithelial-to-mesenchymal transition markers: a chemopreventive mechanism against hepatocarcinogenesis. 61
32920087 2020
18
Influence of Preparation Design, Marginal Gingiva Location, and Tooth Morphology on the Accuracy of Digital Impressions for Full-Crown Restorations: An In Vitro Investigation. 61
33316958 2020
19
Spontaneous Tumor Lysis Syndrome in an Adenocarcinoma of Unknown Origin. 61
33489580 2020
20
Effect of Shading on the Sesquiterpene Lactone Content and Phytotoxicity of Cultivated Cardoon Leaf Extracts. 61
33052675 2020
21
2D/3D accuracies of implant position after guided surgery using different surgical protocols: A retrospective study. 61
32063539 2020
22
A Needle in the Haystack: A Rare Case of Spontaneous Tumor Lysis in Newly Diagnosed Chronic Lymphocytic Leukemia Unmasked by Acute Renal Failure. 61
33274154 2020
23
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. 61
32376988 2020
24
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. 61
32360765 2020
25
A case of spontaneous tumor lysis syndrome in extensive-stage small-cell lung cancer: A rare oncologic emergency. 61
32832733 2020
26
Toxicogenetic evaluation of Smallanthus sonchifolius (yacon) as a herbal medicine. 61
32325177 2020
27
Sesquiterpene Lactones from Calea pinnatifida: Absolute Configuration and Structural Requirements for Antitumor Activity. 61
32630070 2020
28
When the Tumor Lyses: A Case Report on Spontaneous Tumor Lysis Syndrome. 61
32999659 2020
29
Fatal Spontaneous Tumor Lysis Syndrome in a Patient with Metastatic Colon Cancer: A Clinical Case of Rare Oncological Emergency. 61
32508557 2020
30
Comparative transcriptomics reveals candidate transcription factors involved in costunolide biosynthesis in medicinal plant-Saussurea lappa. 61
32035965 2020
31
Ion energy-loss characteristics and friction in a free-electron gas at warm dense matter and nonideal dense plasma conditions. 61
32575188 2020
32
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. 61
31903681 2020
33
Intricate Interplay of Entwined Metabolic and Inflammatory Life-threatening Processes in Tumor Lysis Syndrome Complicating Prostate Cancer: A Systematic Review with a Single Institution Experience. 61
32226700 2020
34
Does working channel position influence the effectiveness of flexible ureteroscopy? Results from an in vitro study. 61
31610080 2020
35
Performance of revised national tuberculosis control program in Bihar: A situational analysis. 61
32318411 2020
36
Silencing of germacrene A synthase genes reduces guaianolide oxalate content in Cichorium intybus L. 61
31668117 2020
37
Mechanical characterisation of human and porcine scalp tissue at dynamic strain rates. 61
31430703 2019
38
You Can't Always Blame the Chemo: A Rare Case of Spontaneous Tumor Lysis Syndrome in a Patient with Invasive Ductal Cell Carcinoma of the Breast. 61
31890391 2019
39
Catalytic Plasticity of Germacrene A Oxidase Underlies Sesquiterpene Lactone Diversification. 61
31534022 2019
40
Man of Steel Syndrome: Silicone and Mineral Oil Injections With Associated Hypercalcemia, Hypophosphatemia, and Proximal Muscle Weakness. 61
31687644 2019
41
Characterization of CYP71AX36 from Sunflower (Helianthus annuus L., Asteraceae). 61
31586110 2019
42
Natural Sesquiterpene Lactones of the 4,15-iso-Atriplicolide Type are Inhibitors of Trypanothione Reductase. 61
31623252 2019
43
Preparation of Sesquiterpene Lactone-Loaded PLA Nanoparticles and Evaluation of Their Antitrypanosomal Activity. 61
31167374 2019
44
Influence of Genotype and Harvest Time on the Cynara cardunculus L. Sesquiterpene Lactone Profile. 61
31094509 2019
45
Testosterone Profiles After Brachytherapy for Localized Prostate Cancer. 61
30716344 2019
46
Reciprocity? International Preceptors' Perceptions of Global Health Elective Learners at African Sites. 61
30896132 2019
47
A Rare Case of Spontaneous Tumor Lysis Syndrome in Idiopathic Primary Myelofibrosis. 61
30712053 2019
48
Spontaneous Tumor Lysis Syndrome Secondary to Small-Cell Neuroendocrine Carcinoma of Unknown Origin: A Rare Case Report and Literature Review. 61
31065393 2019
49
Identifying and mapping TB hot spots in an urban slum by integratingGeographic positioning system and the local postman - A pilot study. 61
30878070 2019
50
Complementary Quantitative Structure⁻Activity Relationship Models for the Antitrypanosomal Activity of Sesquiterpene Lactones. 61
30467296 2018

Variations for Steel Syndrome

ClinVar genetic disease variations for Steel Syndrome:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL27A1 NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) SNV Pathogenic 559387 rs1401322428 GRCh37: 9:116958287-116958287
GRCh38: 9:114196007-114196007
2 COL27A1 NM_032888.4(COL27A1):c.521_528del (p.Cys174fs) Deletion Pathogenic 559388 rs1554787559 GRCh37: 9:116930356-116930363
GRCh38: 9:114168076-114168083
3 COL27A1 NM_032888.4(COL27A1):c.3556-2A>G SNV Pathogenic 559511 rs1554821679 GRCh37: 9:117033006-117033006
GRCh38: 9:114270726-114270726
4 COL27A1 NM_032888.4(COL27A1):c.93del (p.Phe32fs) Deletion Pathogenic 807556 rs1588550383 GRCh37: 9:116925025-116925025
GRCh38: 9:114162745-114162745
5 COL27A1 NM_032888.4(COL27A1):c.3075del (p.Lys1026fs) Deletion Pathogenic 807557 rs5900078 GRCh37: 9:117014912-117014912
GRCh38: 9:114252632-114252632
6 COL27A1 NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) SNV Pathogenic 143245 rs140950220 GRCh37: 9:116958257-116958257
GRCh38: 9:114195977-114195977
7 COL27A1 NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu) SNV Pathogenic 870446 GRCh37: 9:116982108-116982108
GRCh38: 9:114219828-114219828
8 COL27A1 NM_032888.4(COL27A1):c.4979_4983del (p.Gly1660fs) Deletion Likely pathogenic 828066 GRCh37: 9:117068837-117068841
GRCh38: 9:114306557-114306561
9 COL27A1 NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) SNV Likely pathogenic 1031005 GRCh37: 9:117028890-117028890
GRCh38: 9:114266610-114266610
10 COL27A1 NM_032888.4(COL27A1):c.5215A>G (p.Lys1739Glu) SNV Uncertain significance 1031006 GRCh37: 9:117070056-117070056
GRCh38: 9:114307776-114307776
11 COL27A1 NM_032888.4(COL27A1):c.62+4A>G SNV Uncertain significance 1031007 GRCh37: 9:116918296-116918296
GRCh38: 9:114156016-114156016
12 COL27A1 NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) SNV Uncertain significance 1031526 GRCh37: 9:117068828-117068828
GRCh38: 9:114306548-114306548
13 COL27A1 NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg) SNV Uncertain significance 692220 GRCh37: 9:116994102-116994102
GRCh38: 9:114231822-114231822
14 COL27A1 NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr) SNV Uncertain significance 827678 GRCh37: 9:116930130-116930130
GRCh38: 9:114167850-114167850
15 COL27A1 NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp) SNV Uncertain significance 547982 rs143398547 GRCh37: 9:116930076-116930076
GRCh38: 9:114167796-114167796

UniProtKB/Swiss-Prot genetic disease variations for Steel Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 COL27A1 p.Gly697Arg VAR_072564 rs140950220

Expression for Steel Syndrome

Search GEO for disease gene expression data for Steel Syndrome.

Pathways for Steel Syndrome

GO Terms for Steel Syndrome

Sources for Steel 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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