SPDA1
MCID: SPN225
MIFTS: 62

Spondyloarthropathy 1 (SPDA1) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Spondyloarthropathy 1

Aliases & Descriptions for Spondyloarthropathy 1:

Name: Spondyloarthropathy 1 54 66 38
Ankylosing Spondylitis 38 12 50 25 66 41 14 69
Spondylitis, Ankylosing 25 29 42
Bechterew Syndrome 50 24 66
Spondylarthritis Ankylopoietica 25 66
Marie-Strumpell Spondylitis 50 66
Reiter Syndrome 66 69
Ankylosing Spondylitis, Susceptibility to 24
Spondyloarthropathy, Susceptibility to, 1 13
Spondyloarthropathy 1, Susceptibility to 24
Ankylosing Spondylitis Risk Factor 24
Spondyloarthritis Ankylopoietica 25
Ankylosing Spondyloarthritis 50
Ankylosing Spondylarthritis 66
Marie-Strumpel Spondylitis 24
Spondylitis Ankylopoietica 25
Marie-Struempell Disease 25
Marie-Strumpell Disease 12
Rheumatoid Spondylitis 66
Spondylitis Ankylosans 66
Spondylitis Ankylosing 52
Spondylarthropathies 69
Arthritis, Psoriatic 69
Psoriatic Arthritis 66
Bekhterev's Disease 12
Arthritis, Reactive 69
Reactive Arthritis 66
Bekhterev Syndrome 12
Bechterew Disease 25
Spda1 66
As 25

Characteristics:

HPO:

32
spondyloarthropathy 1:
Inheritance heterogeneous multifactorial inheritance


Classifications:



External Ids:

OMIM 54 106300
Disease Ontology 12 DOID:7147
ICD10 33 M45
ICD9CM 35 720.0
NCIt 47 C84564
SNOMED-CT 64 156619005 9631008
UMLS 69 C0038013

Summaries for Spondyloarthropathy 1

OMIM : 54 Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders... (106300) more...

MalaCards based summary : Spondyloarthropathy 1, also known as ankylosing spondylitis, is related to discitis and uveitis, and has symptoms including pain, stiffness in the spine and stiffness in the neck. An important gene associated with Spondyloarthropathy 1 is HLA-B (Major Histocompatibility Complex, Class I, B), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Adalimumab and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

Disease Ontology : 12 A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has symptom pain, has symptom stiffness in the spine, has symptom stiffness in the neck, has symptom stiffness in the hips, has symptom stiffness in the jaw and has symptom stiffness in the rib cage.

Genetics Home Reference : 25 Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.

NIH Rare Diseases : 50 ankylosing spondylitis (as) is a type of chronic, inflammatory arthritis that mainly affects the spine. it usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. back movement gradually becomes more limited as the vertebrae fuse together. the condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. as is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop as. in most cases, treatment involves exercise and medications to relieve pain and inflammation. last updated: 2/9/2015

MedlinePlus : 41 ankylosing spondylitis is a type of arthritis of the spine. it causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. in some people, it can affect other joints. as is more common and more severe in men. it often runs in families. the cause is unknown, but it is likely that both genes and factors in the environment play a role. early symptoms of as include back pain and stiffness. these problems often start in late adolescence or early adulthood. over time, as can fuse your vertebrae together, limiting movement. some people have symptoms that come and go. others have severe, ongoing pain. a diagnosis of as is based on your medical history and a physical examination. you may also have imaging or blood tests. as has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. eating a healthy diet, not smoking, and exercising can also help. in rare cases, you may need surgery to straighten the spine. nih: national institute of arthritis and musculoskeletal and skin disease

UniProtKB/Swiss-Prot : 66 Spondyloarthropathy 1: A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints.

Related Diseases for Spondyloarthropathy 1

Diseases in the Spondyloarthropathy family:

Spondyloarthropathy 3 Spondyloarthropathy 1
Spondyloarthropathy 2 Juvenile Spondyloarthropathy

Diseases related to Spondyloarthropathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 356)
id Related Disease Score Top Affiliating Genes
1 discitis 29.8 CD40LG CD79A
2 uveitis 29.7 CD40LG CD79A TNF
3 artery disease 29.7 CD40LG CD79A CRP
4 tuberculosis 29.6 CD40LG IL17A TNF
5 collagenous colitis 29.6 CD79A CRP IL17A NOD2 TNF
6 epidermolysis bullosa 29.5 CD79A IL17A NOD2 TNF
7 dermatitis herpetiformis 29.4 CD40LG IL17A MMP3 TNF TNFRSF1B
8 complex regional pain syndrome 29.4 CD40LG IL17A TNF TNFRSF1A
9 cryptococcosis 29.2 CD40LG HLA-B IL17A MRAP TNF TNFRSF1B
10 rheumatoid arthritis 28.8 BGLAP CD40LG CD79A CRP IL17A IL1RN
11 celiac disease 26.5 ANKH BGLAP CD40LG CD79A CRP HLA-B
12 psoriatic arthritis 12.7
13 smoking as a quantitative trait locus 1 11.8
14 smoking as a quantitative trait locus 2 11.8
15 arthritis 11.6
16 psoriasis 11.6
17 angelman syndrome 11.5
18 osteochondrosis 11.3
19 psoriatic juvenile idiopathic arthritis 11.3
20 antisynthetase syndrome 11.2
21 hepatocellular carcinoma 11.1
22 aortic valve disease 2 11.1
23 lip cancer 11.1
24 acute gonococcal salpingitis 10.7
25 lung cancer susceptibility 2 10.7
26 mucopolysaccharidosis is 10.7
27 bronchitis 10.7
28 breast cancer 10.7
29 prostate cancer 10.7
30 spondylitis 10.4
31 alcoholic neuropathy 10.3 CD40LG CD79A
32 camptodactyly vertebral fusion 10.3 CD40LG CD79A
33 swine influenza 10.3 CRP HLA-B TNF
34 spinal polio 10.3 CD40LG CD79A
35 rabies 10.3 CD40LG CD79A
36 unilateral retinoblastoma 10.3 CD40LG CD79A
37 mesangial proliferative glomerulonephritis 10.3 CD40LG CD79A
38 delta chain disease 10.3 CD40LG CD79A
39 spinal canal and spinal cord meningioma 10.3 CD40LG CD79A
40 trichostrongyloidiasis 10.3 CD40LG CD79A
41 colloid adenoma 10.3 CD40LG CD79A
42 heart septal defect 10.3 CD40LG CD79A
43 cutaneous polyarteritis nodosa 10.3 CD40LG CD79A
44 human immunodeficiency virus infectious disease 10.3 CD40LG CRP TNF
45 hemangioma of orbit 10.3 CD40LG CD79A TNF
46 mild pre-eclampsia 10.3 CD40LG CD79A
47 chordoid meningioma 10.3 CRP MMP3 TNF
48 leiomyosarcoma 10.3 CD40LG CD79A CRP
49 chronic mucocutaneous candidiasis 10.3 CD40LG CD79A CRP
50 ovarian serous cystadenocarcinoma 10.3 CD40LG CD79A CRP

Comorbidity relations with Spondyloarthropathy 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Hypertension, Essential Osteoporosis
Rheumatoid Arthritis

Graphical network of the top 20 diseases related to Spondyloarthropathy 1:



Diseases related to Spondyloarthropathy 1

Symptoms & Phenotypes for Spondyloarthropathy 1

Symptoms by clinical synopsis from OMIM:

106300

Clinical features from OMIM:

106300

Symptoms:

12
  • pain
  • stiffness in the spine
  • stiffness in the neck
  • stiffness in the hips
  • stiffness in the jaw
  • stiffness in the rib cage

Human phenotypes related to Spondyloarthropathy 1:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 back pain 32 HP:0003418
2 kyphosis 32 HP:0002808
3 arrhythmia 32 HP:0011675
4 inflammation of the large intestine 32 HP:0002037
5 aortic regurgitation 32 HP:0001659
6 psoriasis 32 HP:0003765
7 enthesitis 32 HP:0100686
8 hip osteoarthritis 32 HP:0008843
9 anterior uveitis 32 HP:0012122

UMLS symptoms related to Spondyloarthropathy 1:


back pain, muscle cramp, sciatica

GenomeRNAi Phenotypes related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 TNFRSF1A TNFRSF1B CD40LG IL17A NOD2 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 TNFRSF1B CD40LG IL17A NOD2 TNF TNFRSF11B
3 Increased shRNA abundance GR00327-A 9.35 BGLAP CD79A HLA-B IL1RN MMP3

MGI Mouse Phenotypes related to Spondyloarthropathy 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 ANKH CD40LG CD79A IL17A IL1RN MMP3
2 homeostasis/metabolism MP:0005376 9.93 CD79A CRP IL17A IL1RN MMP3 NOD2
3 craniofacial MP:0005382 9.87 ANKH IL17A TNF TNFRSF11B TNFRSF1A TNFRSF1B
4 immune system MP:0005387 9.8 TNFRSF1A TNFRSF1B TNFSF11 ANKH CD40LG CD79A
5 skeleton MP:0005390 9.36 ANKH CD40LG IL17A IL1RN MMP3 NOD2

Drugs & Therapeutics for Spondyloarthropathy 1

Drugs for Spondyloarthropathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 242)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 4,Phase 2,Phase 3 331731-18-1 16219006
2
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2 185243-69-0
3
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1 170277-31-3
4
Certolizumab pegol Approved Phase 4,Phase 3,Phase 1 428863-50-7
5
Celecoxib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 169590-42-5 2662
6
Naproxen Approved, Vet_approved Phase 4,Phase 3 22204-53-1 1302 156391
7
Sulfasalazine Approved Phase 4,Phase 2,Phase 3,Phase 1 599-79-1 5353980 5359476
8
Methotrexate Approved Phase 4,Phase 2,Phase 3,Phase 1 1959-05-2, 59-05-2 126941
9
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
10
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
11
Aceclofenac Approved Phase 4 89796-99-6
12
Acetaminophen Approved Phase 4 103-90-2 1983
13
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
14
Pamidronate Approved Phase 4,Phase 1,Phase 2 40391-99-9 4674
15
Apremilast Approved, Investigational Phase 4,Phase 3,Phase 2 608141-41-9 11561674
16
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
19 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
20 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
21 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
23 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Natriuretic Agents Phase 4
28 Natriuretic Peptide, Brain Phase 4
29 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3,Phase 1
31 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
32 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
33 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
34 Vaccines Phase 4,Phase 2
35 Adrenocorticotropic Hormone Phase 4
36 beta-endorphin Phase 4
37 Hormone Antagonists Phase 4,Phase 2,Phase 3
38 Hormones Phase 4,Phase 2,Phase 3
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
40 Melanocyte-Stimulating Hormones Phase 4
41 Anti-Infective Agents Phase 4,Phase 2,Phase 3
42 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
43 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
44 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
45 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
46 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
47 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2,Phase 1
48 Endothelial Growth Factors Phase 4
49 Mitogens Phase 4
50 Bone Density Conservation Agents Phase 4,Phase 1

Interventional clinical trials:

(show top 50) (show all 428)
id Name Status NCT ID Phase
1 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4
2 Effects of Biological Treatment on Blood Pressure and Endothelial Function in Patients With Rheumatoid Arthritis, Psoriatic Arthritis and Ankylosing Spondylitis Unknown status NCT02132234 Phase 4
3 Gastro-protective Effect and Pain Relief Effect of Naxozol Compared to Celecoxib in Patients With Osteoarthritis Unknown status NCT02355236 Phase 4
4 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
5 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
6 Protocol for H.P. Acthar Gel in Moderately to Severely Active Psoriatic Arthritis Unknown status NCT01939132 Phase 4
7 Study Evaluating Etanercept and Sulphasalazine in Ankylosing Spondylitis Completed NCT00247962 Phase 4
8 Study Evaluating Etanercept in Subjects With Ankylosing Spondylitis in Spain Completed NCT00873730 Phase 4
9 Study Evaluating Etanercept for the Treatment of Active, Severe, and Advanced Axial Ankylosing Spondylitis Completed NCT00420238 Phase 4
10 Effect of the Combination of Methotrexate and Adalimumab on Reduction of Immunization in Ankylosing Spondylitis (COMARIS) Completed NCT01895764 Phase 4
11 Study Evaluating Etanercept in Patients With Ankylosing Spondylitis Completed NCT00458185 Phase 4
12 An Open-Label Multicentre Long-Term Extension Study of Etanercept for Ankylosing Spondylitis Completed NCT00444340 Phase 4
13 A Study Of Celecoxib Versus Diclofenac In Patients With Ankylosing Spondylitis Completed NCT02528201 Phase 4
14 Work Productivity in Active Ankylosing Spondylitis (AS) Patients Treated With Enbrel. Completed NCT01421303 Phase 4
15 Analysis of the Peripheral Blood Mononuclear Cells of Patients With Ankylosing Spondylitis During Infliximab Treatment (Study P04465)(COMPLETED) Completed NCT00778869 Phase 4
16 A Study of the Efficacy and Tolerance of Remicade in the Treatment of Active Ankylosing Spondylitis (Study P04042)(COMPLETED) Completed NCT00779012 Phase 4
17 Growth Factor Concentration to Predict an Ankylosing Spondylitis Patient's Response to Infliximab (Study P04041)(COMPLETED) Completed NCT00779935 Phase 4
18 The Incidence of Extra-Articular Manifestations in Participants With Ankylosing Spondylitis Treated With Golimumab (MK-8259-012) Completed NCT01668004 Phase 4
19 Relapse of Ankylosing Spondylitis Patients Withdrawal Etanercept After Clinical Remission: a Following-up Study Completed NCT02915354 Phase 4
20 Study Investigating Enbrel Treatment for Ankylosing Spondylitis Completed NCT00195416 Phase 4
21 Extension Study Evaluating Etanercept in Ankylosing Spondylitis Completed NCT00410046 Phase 4
22 Study Evaluating The Use Of Etanercept In Patients With Ankylosing Spondylitis Completed NCT00544557 Phase 4
23 Infliximab and Methotrexate in Ankylosing Spondylitis Completed NCT00507403 Phase 4
24 Efficacy and Safety of Kunxian Capsule in Treatment Patients With Early Ankylosing Spondylitis Completed NCT00953979 Phase 4
25 Treatment With Alendronate in Patients With Ankylosing Spondylitis (AS) Completed NCT01104987 Phase 4
26 Effects of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) on RAdiographic Damage in Ankylosing Spondylitis Completed NCT00715091 Phase 4
27 Effect of Anti-TNF (Alpha) Treatment on Vascular Stiffness in Ankylosing Spondylitis (AS) Completed NCT01212653 Phase 4
28 Combination Methotrexate and Infliximab Completed NCT00432432 Phase 4
29 Efficacy and Safety Study of Infliximab (Remicade) to Treat Early Ankylosing Spondylitis Completed NCT00936143 Phase 4
30 An Observational Study of Infliximab Injection in Ankylosing Spondylitis, Rheumatoid Arthritis, Psoriatic Arthritis and Psoriasis Participants Completed NCT00760669 Phase 4
31 Tramadol/Acetaminophen(Ultracet) AS add-on Therapy in the Treatment of Patients With Ankylosing Spondylitis Completed NCT00647517 Phase 4
32 Total Glucosides Paeony Capsules in Maintaining Clinical Remission in Patients With Ankylosing Spondylitis Which Achieve Clinical Remission After Anti-TNF Therapy Completed NCT01517620 Phase 4
33 Intestinal Inflammation in Ankylosing Spondylitis and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4
34 Post Marketing Surveillance of Remicade Completed NCT00724529 Phase 4
35 TNFalfa Blocking Treatment of Spondylarthropathies Completed NCT00133315 Phase 4
36 Evaluation of a Protocol for Dose Reduction in Patients With Spondylarthropathies and Clinical Remission With Anti-TNF Completed NCT01604629 Phase 4
37 Adalimumab in Axial Spondyloarthritis (ASIM) - MRI and Biomarkers in Patients With Spondyloarthritis Completed NCT01029847 Phase 4
38 Golimumab Versus Pamidronate for the Treatment of Axial Spondyloarthropathy: a 48-week Trial Completed NCT01718951 Phase 4
39 Study Comparing the Efficacy and Safety of Continuing Versus Withdrawing Adalimumab Therapy in Maintaining Remission in Subjects With Non-Radiographic Axial Spondyloarthritis Completed NCT01808118 Phase 4
40 A Study to Evaluate the NSAIDS Sparing Effect of Etanercept in Subjects With Axial Spondyloarthritis Completed NCT01298531 Phase 4
41 A Study of the Use of the Madrid Ultrasound Scoring System in the Treatment of Anti-TNF Blocker to Peripheral Tendonitis in Patients With Spondyloarthritis Completed NCT02960035 Phase 4
42 Prevalence of Psoriatic Arthritis in Adults With Psoriasis: An Estimate From Dermatology Practice Completed NCT01147874 Phase 4
43 Tumor Necrosis Factors (TNF)-α Blockade for Psoriatic Arthritis Completed NCT00432406 Phase 4
44 A Study in Participants With Psoriatic Arthritis Attending Dermatology Clinics Completed NCT02470481 Phase 4
45 Centocor Microarray Study of Patients Completed NCT00462072 Phase 4
46 HUmira in Psoriatic Arthritis Completed NCT01465438 Phase 4
47 Study Evaluating Etanercept on Skin and Joint Disease in Psoriatic Arthritis Completed NCT00245960 Phase 4
48 NSAIDs Added to Anti-TNF Therapy Versus Anti-TNF Therapy Alone on Progression of Structural Damage in the Spine in Ankylosing Spondylitis Recruiting NCT02758782 Phase 4
49 A Randomized, Double-blind, Placebo-controlled Multicenter Study of Secukinumab (AIN457) to Examine the Clinical Efficacy and the Nonsteroidal Anti-inflammatory Drug (NSAID)-Sparing Effect of Secukinumab Over 16 Weeks in Patients With Ankylosing Spondylit Recruiting NCT02763046 Phase 4
50 Biomarkers Identification of Anti-tumor Necrosis Factor (TNF) α Agent's Efficacy in Ankylosing Spondylitis Patients Recruiting NCT02492217 Phase 4

Search NIH Clinical Center for Spondyloarthropathy 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spondyloarthropathy 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells to treat ankylosing spondylitis
Embryonic/Adult Cultured Cells Related to Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells (family)
Placenta-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: spondylitis, ankylosing

Genetic Tests for Spondyloarthropathy 1

Genetic tests related to Spondyloarthropathy 1:

id Genetic test Affiliating Genes
1 Ankylosing Spondylitis 29
2 Spondyloarthropathy 1, Susceptibility to 24

Anatomical Context for Spondyloarthropathy 1

MalaCards organs/tissues related to Spondyloarthropathy 1:

39
Bone, Lung, Testes, Heart, Skin, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spondyloarthropathy 1:
id Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate

Publications for Spondyloarthropathy 1

Variations for Spondyloarthropathy 1

ClinVar genetic disease variations for Spondyloarthropathy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HLA-B HLA-B, HLA-B27 undetermined variant risk factor

Expression for Spondyloarthropathy 1

Search GEO for disease gene expression data for Spondyloarthropathy 1.

Pathways for Spondyloarthropathy 1

Pathways related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 CD40LG CD79A CRP HLA-B IL17A IL1RN
2
Show member pathways
13.01 CD40LG HLA-B IL17A IL1RN MMP3 NOD2
3
Show member pathways
12.77 CD40LG HLA-B IL17A TAPBP TNF
4
Show member pathways
12.55 CD40LG CD79A TNF TNFRSF1A TNFRSF1B
5
Show member pathways
12.52 CD40LG TNF TNFRSF11B TNFRSF1A TNFRSF1B TNFSF11
6 12.17 CD40LG TNFRSF1A TNFRSF1B TNFSF11
7 11.98 TNF TNFRSF11B TNFRSF1A TNFSF11
8 11.91 IL17A MMP3 TNF TNFRSF1B
9 11.8 CD40LG TNF TNFRSF1A TNFSF11
10 11.8 MMP3 NOD2 TNF TNFRSF1A TNFRSF1B
11 11.75 IL17A MMP3 TNF TNFSF11
12 11.72 CD40LG CD79A IL17A IL1RN TNF TNFRSF1A
13 11.64 TNF TNFRSF1A TNFRSF1B
14
Show member pathways
11.56 CD40LG MMP3 TNF TNFRSF1A
15
Show member pathways
11.52 CD40LG TNF TNFRSF1A TNFRSF1B TNFSF11
16 11.51 TNF TNFRSF1A TNFRSF1B
17
Show member pathways
11.47 TNF TNFRSF1A TNFRSF1B
18 11.42 IL1RN TNF TNFRSF1A TNFRSF1B
19
Show member pathways
11.36 TNF TNFRSF1A TNFRSF1B
20 11.36 BGLAP TNF TNFRSF11B TNFSF11
21
Show member pathways
11.36 CD40LG TNF TNFRSF11B TNFRSF1A TNFRSF1B TNFSF11
22 11.26 CD40LG TNFRSF1A TNFRSF1B
23 11.24 TNF TNFRSF1A TNFRSF1B
24 11.15 CD40LG IL17A TNF TNFSF11
25 11.07 NOD2 TNF TNFRSF1A
26 10.84 TNFRSF11B TNFSF11
27 10.8 BGLAP TNFRSF11B TNFSF11

GO Terms for Spondyloarthropathy 1

Cellular components related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.81 ANKH CD40LG CD79A HLA-B TNF TNFRSF11B
2 cell surface GO:0009986 9.8 CD40LG HLA-B NOD2 TNF TNFRSF1A
3 extracellular region GO:0005576 9.7 BGLAP CD40LG CRP IL17A IL1RN MMP3
4 external side of plasma membrane GO:0009897 9.67 CD40LG CD79A IL17A TNF
5 membrane raft GO:0045121 9.62 CD79A TNF TNFRSF1A TNFRSF1B
6 extracellular space GO:0005615 9.32 BGLAP CD40LG CRP IL17A IL1RN MMP3
7 plasma membrane GO:0005886 10.03 ANKH CD40LG CD79A HLA-B IL1RN MRAP

Biological processes related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.88 NOD2 TNFRSF11B TNFRSF1A TNFRSF1B
2 regulation of cell proliferation GO:0042127 9.86 TNF TNFRSF11B TNFRSF1A TNFRSF1B
3 apoptotic signaling pathway GO:0097190 9.74 TNF TNFRSF11B TNFRSF1B
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.73 NOD2 TNF TNFRSF1A TNFSF11
5 response to glucocorticoid GO:0051384 9.72 BGLAP IL1RN TNF
6 positive regulation of JNK cascade GO:0046330 9.69 NOD2 TNF TNFSF11
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 CD40LG NOD2 TNF TNFSF11
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 CD40LG TNF TNFRSF11B TNFRSF1A TNFRSF1B TNFSF11
9 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.6 TNF TNFRSF1B
10 response to inorganic substance GO:0010035 9.59 BGLAP TNFRSF11B
11 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.58 IL17A NOD2
12 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.58 TNF TNFRSF1A TNFRSF1B
13 inflammatory response GO:0006954 9.56 CD40LG CRP IL17A IL1RN TNF TNFRSF11B
14 negative regulation of lipid storage GO:0010888 9.54 CRP TNF
15 positive regulation of ceramide biosynthetic process GO:2000304 9.52 TNF TNFRSF1A
16 positive regulation of osteoclast differentiation GO:0045672 9.5 IL17A TNF TNFSF11
17 death-inducing signaling complex assembly GO:0071550 9.49 TNF TNFRSF1A
18 regulation of establishment of endothelial barrier GO:1903140 9.48 TNF TNFRSF1A
19 regulation of immunoglobulin secretion GO:0051023 9.46 CD40LG TNF
20 regulation of osteoclast differentiation GO:0045670 9.43 BGLAP TNF TNFSF11
21 immune response GO:0006955 9.32 CD40LG HLA-B IL17A IL1RN TAPBP TNF

Molecular functions related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.33 CD40LG TNF TNFSF11
2 tumor necrosis factor-activated receptor activity GO:0005031 9.13 TNFRSF11B TNFRSF1A TNFRSF1B
3 cytokine activity GO:0005125 9.1 CD40LG IL17A IL1RN TNF TNFRSF11B TNFSF11

Sources for Spondyloarthropathy 1

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