STLS
MCID: STL007
MIFTS: 43

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 56 58 73 36 29 6 71
Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, and Short Stature 56 73
Stls 56 73
Bilateral Hip and Radial Head Dislocations-Short Stature-Scoliosis-Carpal Coalitions-Pes Cavus-Facial Dysmorphism Syndrome 58
Hip Dislocation 43
Syndrome, Steel 39

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
steel syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 615155
KEGG 36 H02300
ICD10 32 S73.0
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA438117
UMLS 71 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 supranuclear palsy, progressive, 1. An important gene associated with Steel Syndrome is COL27A1 (Collagen Type XXVII Alpha 1 Chain). The drugs Bupivacaine and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related phenotypes are global developmental delay and sensorineural hearing impairment

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 210)
# Related Disease Score Top Affiliating Genes
1 dwarfism, proportionate, with hip dislocation 12.5
2 supranuclear palsy, progressive, 1 11.6
3 myelomeningocele 11.6
4 classic progressive supranuclear palsy syndrome 11.6
5 central core disease of muscle 11.5
6 larsen syndrome 11.5
7 hutchinson-gilford progeria syndrome 11.5
8 beukes hip dysplasia 11.4
9 ehlers-danlos syndrome, arthrochalasia type, 1 11.4
10 cutis laxa, autosomal recessive, type ia 11.4
11 uruguay faciocardiomusculoskeletal syndrome 11.4
12 wieacker-wolff syndrome 11.4
13 ehlers-danlos syndrome, arthrochalasia type, 2 11.4
14 arthrochalasia ehlers-danlos syndrome 11.4
15 stickler syndrome 11.3
16 parkinson-dementia syndrome 11.2
17 cyprus facial neuromusculoskeletal syndrome 11.2
18 ectodermal dysplasia, trichoodontoonychial type 11.2
19 joint laxity, familial 11.2
20 microphthalmia with limb anomalies 11.2
21 camptodactyly syndrome, guadalajara, type ii 11.2
22 cerebellar hypoplasia with endosteal sclerosis 11.2
23 deafness, conductive, with ptosis and skeletal anomalies 11.2
24 geroderma osteodysplasticum 11.2
25 ulna and fibula, absence of, with severe limb deficiency 11.2
26 autosomal recessive cutis laxa type i 11.2
27 deaf1-associated disorders 11.2
28 avascular necrosis 11.0
29 cerebral palsy 10.8
30 osteonecrosis 10.6
31 developmental dysplasia of the hip 1 10.5
32 slipped capital femoral epiphysis 10.5
33 hip subluxation 10.4
34 legg-calve-perthes disease 10.4
35 osteochondrosis 10.4
36 down syndrome 10.4
37 alkuraya-kucinskas syndrome 10.3
38 congenital amyoplasia 10.3
39 spastic cerebral palsy 10.3
40 osteochondritis dissecans 10.3
41 adult t-cell leukemia 10.3
42 t-cell lymphoblastic leukemia/lymphoma 10.3
43 leukemia, t-cell, chronic 10.3
44 osteoarthritis 10.2
45 spasticity 10.2
46 distal arthrogryposis 10.2
47 osteomyelitis 10.2
48 spastic quadriplegia 10.2
49 septic arthritis 10.2
50 neurofibromatosis 10.2

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 hypertelorism 31 HP:0000316
4 scoliosis 31 HP:0002650
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:

56
Head And Neck Eyes:
hypertelorism

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

Skeletal Spine:
scoliosis
cervical spine anomalies

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

Drugs & Therapeutics for Steel Syndrome

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
9 Antihypertensive Agents Phase 4
10 Sympatholytics Phase 4
11 Gentamicins Phase 4
12 Sodium Chloride Symporter Inhibitors Phase 4
13 diuretics Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Hormones Phase 4
16 Hormone Antagonists Phase 4
17 Antiemetics Phase 4
18 glucocorticoids Phase 4
19 Gastrointestinal Agents Phase 4
20 Anesthetics Phase 4
21 Pharmaceutical Solutions Phase 4
22 Anesthetics, Local Phase 4
23 Respiratory System Agents Phase 4
24 Adrenergic alpha-Agonists Phase 4
25 Adrenergic beta-Agonists Phase 4
26 Adrenergic Agents Phase 4
27 Vasoconstrictor Agents Phase 4
28 Epinephryl borate Phase 4
29 Anti-Asthmatic Agents Phase 4
30 Adrenergic Agonists Phase 4
31 Neurotransmitter Agents Phase 4
32 Mydriatics Phase 4
33 Analgesics Phase 4
34 Bronchodilator Agents Phase 4
35 Sympathomimetics Phase 4
36 Anti-Inflammatory Agents Phase 4
37 Analgesics, Non-Narcotic Phase 4
38 Cyclooxygenase Inhibitors Phase 4
39 Antirheumatic Agents Phase 4
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41
Morphine Approved, Investigational Phase 3 57-27-2 5288826
42
Tranexamic Acid Approved 1197-18-8 5526
43
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
44
Promethazine Approved, Investigational 60-87-7 4927
45
Histamine Approved, Investigational 51-45-6 774
46
Ondansetron Approved 99614-02-5 4595
47
Lorazepam Approved 846-49-1 3958
48
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
49
Diphenhydramine Approved, Investigational 58-73-1, 147-24-0 3100
50
Cimetidine Approved, Investigational 51481-61-9 2756

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 Reduction of Hip Arthroscopy Post-operative Pain Using Ultrasound-guided Fascia-iliaca Block Completed NCT02365961 Phase 4 ropivicaine;clonidine;Epinephrine;Noropin
2 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
3 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
4 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 Phase 4
5 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Periacetabular (GANZ) Osteotomy Completed NCT03161938 Phase 4 Dexamethasone
6 Liposomal Bupivacaine Versus Bupivacaine With Fascia Iliaca Blockade for Perioperative Pain Management During Hip Arthroscopy: A Double-Blinded Prospective Randomized Control Trial Completed NCT02947178 Phase 4 Bupivacaine;Liposomal Bupivacaine
7 Dual-mobility vs. Single-bearing Components in THA at "High Risk" for Prosthetic Dislocation Recruiting NCT04092634 Phase 4
8 Dual Mobility Acetabular Cups in Revision TJA Recruiting NCT04090359 Phase 4
9 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
10 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
11 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
12 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
13 DURALOC® Option Ceramic-on-Ceramic Hip Prosthesis System PMA Post-approval Study Terminated NCT00546598 Phase 4
14 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
15 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
16 Multicenter Post Approval Study of the Trilogy AB(R) Acetabular System Terminated NCT00715026 Phase 4
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 Postoperative Pain Management Following Total Hip Arthroplasty. A Comparison Between Local Infiltration Analgesia and Ultrasound Guided 3-in-1 Block Completed NCT02568995 Phase 3 ropivacaine + ketorolac + adrenaline
26 The Effect of Perioperative Dexamethasone Administration on Postoperative Pain in Patients Undergoing Periacetabular Osteotomy: A Randomised Double-blind, Placebo-controlled Trial Not yet 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 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
30 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
31 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
32 Full Repairing Versus Partial Repairing of Soft Tissue Surrounding the Hip Joint in Hip Arthroplasty for Femoral Neck Fractures Unknown status NCT02897440
33 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Unknown status NCT03541122
34 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Unknown status NCT02900482
35 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
36 Supercapsular Percutaneously Assisted Total Hip Approach for the Elderly With Femoral Neck Fractures: a Prospective, Open-label, Randomized, Controlled Clinical Trial Unknown status NCT03134664
37 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
38 Soft Tissue Pathology in 100 Patients With Hip Dysplasia Before and After Periacetabular Osteotomy Unknown status NCT02311166
39 Restoration of Leg Length, Offset, and Center of Rotation in Total Hip Replacement Unknown status NCT00738803
40 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
41 Routine Follow up After THA in PAO Patient Completed NCT01657357
42 Periprosthetic Bone Mineral Density After Total Hip Arthroplasty Performed Through a Minimally Invasive Anterior Approach (AMIS) With Either an AMIStem or a Quadra Femoral Component. Completed NCT01285843
43 Transmuscular Quadratus Lumborum Block Block for Congenital Hip Dislocation Surgery: Randomized Controlled Study Completed NCT04212832 Bupivacaine
44 The Need for Supine Position Advise During Sleep in the First 8 Week After a Total Hip Replacement to Prevent Hip Dislocation Completed NCT02107248
45 A Prospective, Randomized, Multicenter, Controlled Study Comparing the Outcomes of Primary Total Hip Arthroplasty Devices Manufactured in China Versus Devices Manufactured Outside of China Completed NCT02399007
46 Ebis: The Eindhoven Breech Intervention Study Completed NCT00516555
47 Stress Analysis of Hip Dysplasia After Corrective Surgery Completed NCT01575977
48 Post Approval Study of the C2a-Taper™ Acetabular System Completed NCT00578851
49 Predictive Factors for the Development of Osteonecrosis After the Treatment of the Developmental Dislocated Hip. A Comparison of Early Open Reduction Versus Late Open Reduction With Combined Pemberton and Femoral Osteotomies Completed NCT01133938
50 Outcome After Arthroscopic Labrum Surgery in Patients Treated With Periacetabular Osteotomy Completed NCT02945995

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, Lung, Skin, T Cells, Thyroid, Prostate, Eye

Publications for Steel Syndrome

Articles related to Steel Syndrome:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 56 6 61
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 6 56
28322503 2017
3
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 61 6 56
24986830 2015
4
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. 6 56
28895531 2017
5
Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. 56 61
20357596 2010
6
A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children. 56
8423186 1993
7
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. 61
32360765 2020
8
Toxicogenetic evaluation of Smallanthus sonchifolius (yacon) as a herbal medicine. 61
32325177 2020
9
Ion energy-loss characteristics and friction in a free-electron gas at warm dense matter and nonideal dense plasma conditions. 61
32575188 2020
10
Comparative transcriptomics reveals candidate transcription factors involved in costunolide biosynthesis in medicinal plant-Saussurea lappa. 61
32035965 2020
11
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. 61
32376988 2020
12
Fatal Spontaneous Tumor Lysis Syndrome in a Patient with Metastatic Colon Cancer: A Clinical Case of Rare Oncological Emergency. 61
32508557 2020
13
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. 61
31913554 2020
14
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. 61
31903681 2020
15
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
16
Does working channel position influence the effectiveness of flexible ureteroscopy? Results from an in vitro study. 61
31610080 2020
17
2D/3D accuracies of implant position after guided surgery using different surgical protocols: A retrospective study. 61
32063539 2020
18
Performance of revised national tuberculosis control program in Bihar: A situational analysis. 61
32318411 2020
19
Silencing of germacrene A synthase genes reduces guaianolide oxalate content in Cichorium intybus L. 61
31668117 2020
20
Mechanical characterisation of human and porcine scalp tissue at dynamic strain rates. 61
31430703 2019
21
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
22
Catalytic Plasticity of Germacrene A Oxidase Underlies Sesquiterpene Lactone Diversification. 61
31534022 2019
23
Characterization of CYP71AX36 from Sunflower (Helianthus annuus L., Asteraceae). 61
31586110 2019
24
Natural Sesquiterpene Lactones of the 4,15-iso-Atriplicolide Type are Inhibitors of Trypanothione Reductase. 61
31623252 2019
25
Man of Steel Syndrome: Silicone and Mineral Oil Injections With Associated Hypercalcemia, Hypophosphatemia, and Proximal Muscle Weakness. 61
31687644 2019
26
Influence of Genotype and Harvest Time on the Cynara cardunculus L. Sesquiterpene Lactone Profile. 61
31094509 2019
27
Preparation of Sesquiterpene Lactone-Loaded PLA Nanoparticles and Evaluation of Their Antitrypanosomal Activity. 61
31167374 2019
28
Testosterone Profiles After Brachytherapy for Localized Prostate Cancer. 61
30716344 2019
29
Reciprocity? International Preceptors' Perceptions of Global Health Elective Learners at African Sites. 61
30896132 2019
30
A Rare Case of Spontaneous Tumor Lysis Syndrome in Idiopathic Primary Myelofibrosis. 61
30712053 2019
31
Spontaneous Tumor Lysis Syndrome Secondary to Small-Cell Neuroendocrine Carcinoma of Unknown Origin: A Rare Case Report and Literature Review. 61
31065393 2019
32
Identifying and mapping TB hot spots in an urban slum by integratingGeographic positioning system and the local postman - A pilot study. 61
30878070 2019
33
Complementary Quantitative Structure⁻Activity Relationship Models for the Antitrypanosomal Activity of Sesquiterpene Lactones. 61
30467296 2018
34
Natural products as inhibitors of Leishmania major dihydroorotate dehydrogenase. 61
30145372 2018
35
Structural characteristics of strongly coupled ions in a dense quantum plasma. 61
30253556 2018
36
Longevity after radiotherapy of stage III lung cancer: superior vena cava obstruction is associated with early mortality. 61
29307206 2018
37
Diversity Modification and Structure-Activity Relationships of Two Natural Products 1β-hydroxy Alantolactone and Ivangustin as Potent Cytotoxic Agents. 61
29379131 2018
38
Biological Activity of Flavonoids and Rare Sesquiterpene Lactones Isolated From Centaurea ragusina L. 61
30190676 2018
39
Effect of lateral oblique cyclic loading on microleakage and screw loosening of implants with different connections. 61
30443303 2018
40
Discovery of a non-stereoselective cytochrome P450 catalyzing either 8α- or 8β-hydroxylation of germacrene A acid from the Chinese medicinal plant, Inula hupehensis. 61
29086444 2018
41
Germacranolide-type sesquiterpene lactones from Smallanthus sonchifolius with promising activity against Leishmania mexicana and Trypanosoma cruzi. 61
29132413 2017
42
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. 61
28696550 2017
43
Quantum Singwi-Tosi-Land-Sjölander approach for interacting inhomogeneous systems under electromagnetic fields: Comparison with exact results. 61
28938817 2017
44
Non-invasive evaluation of skin tension lines with elastic waves. 61
27868283 2017
45
A lateral costal artery complicating video-assisted thorascopic surgery (VATS) pleurectomy. 61
27942946 2017
46
The Value of Active Ultrasound Surveillance for Patients With Small Testicular Lesions. 61
27575843 2017
47
Tumor lysis syndrome in solid tumors: Clinical characteristics and prognosis. 61
27993406 2017
48
Spontaneous Tumor Lysis Syndrome in Small Cell Lung Cancer. 61
28344911 2017
49
Effect of guaianolides in the meiosis reinitiation of amphibian oocytes. 61
27806737 2017
50
Genetic Architecture of Capitate Glandular Trichome Density in Florets of Domesticated Sunflower (Helianthus annuus L.). 61
29375602 2017

Variations for Steel Syndrome

ClinVar genetic disease variations for Steel Syndrome:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL27A1 NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter)SNV Pathogenic 559387 rs1401322428 9:116958287-116958287 9:114196007-114196007
2 COL27A1 NM_032888.4(COL27A1):c.521_528del (p.Cys174fs)deletion Pathogenic 559388 rs1554787559 9:116930356-116930363 9:114168076-114168083
3 COL27A1 NM_032888.4(COL27A1):c.3556-2A>GSNV Pathogenic 559511 rs1554821679 9:117033006-117033006 9:114270726-114270726
4 COL27A1 NM_032888.4(COL27A1):c.93del (p.Phe32fs)deletion Pathogenic 807556 9:116925025-116925025 9:114162745-114162745
5 COL27A1 NM_032888.4(COL27A1):c.3075del (p.Lys1026fs)deletion Pathogenic 807557 9:117014912-117014912 9:114252632-114252632
6 COL27A1 NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu)SNV Pathogenic 870446 9:116982108-116982108 9:114219828-114219828
7 COL27A1 NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)SNV Pathogenic 143245 rs140950220 9:116958257-116958257 9:114195977-114195977
8 46;XX;t(7;13)(p13;q34)dnTranslocation Pathogenic 267841
9 COL27A1 NM_032888.4(COL27A1):c.2409G>A (p.Leu803=)SNV Likely pathogenic 816478 9:116982112-116982112 9:114219832-114219832
10 COL27A1 NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg)SNV Uncertain significance 692220 9:116994102-116994102 9:114231822-114231822
11 COL27A1 NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp)SNV Uncertain significance 547982 rs143398547 9:116930076-116930076 9:114167796-114167796
12 COL27A1 NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)SNV no interpretation for the single variant 827755 9:116930130-116930130 9:114167850-114167850
13 COL27A1 NM_032888.4(COL27A1):c.3056C>A (p.Pro1019His)SNV no interpretation for the single variant 827756 9:117014895-117014895 9:114252615-114252615

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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