JDM
MCID: CHL028
MIFTS: 42

Childhood Type Dermatomyositis (JDM) malady

Categories: Rare diseases, Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Muscle diseases

Aliases & Classifications for Childhood Type Dermatomyositis

Aliases & Descriptions for Childhood Type Dermatomyositis:

Name: Childhood Type Dermatomyositis 38 12 14
Juvenile Dermatomyositis 12 50 56 69
Dermatomyositis, Childhood Type 69
Childhood Dermatomyositis 12
Juvenile Myositis 50
Juvenile Dm 56
Jdm 50
Jpm 50

Characteristics:

Orphanet epidemiological data:

56
juvenile dermatomyositis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14203
MeSH 42 D003882
NCIt 47 C27576
SNOMED-CT 64 1212005
Orphanet 56 ORPHA93672
MESH via Orphanet 43 C538250
UMLS via Orphanet 70 C0263666 C2931785
ICD10 via Orphanet 34 M33.0
ICD10 33 M33.0
UMLS 69 C0263666

Summaries for Childhood Type Dermatomyositis

NIH Rare Diseases : 50 juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. it typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected.  about 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes. treatment is aimed at addressing the individual symptoms of each patient. this may involve a combination of medications, physical therapy and supplements. last updated: 7/25/2016

MalaCards based summary : Childhood Type Dermatomyositis, also known as juvenile dermatomyositis, is related to tracheal calcification and autoimmune disease of skin and connective tissue, and has symptoms including pruritus, arthralgia and constipation. An important gene associated with Childhood Type Dermatomyositis is DMBX1 (Diencephalon/Mesencephalon Homeobox 1). The drugs Abatacept and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, skin and heart.

Related Diseases for Childhood Type Dermatomyositis

Graphical network of the top 20 diseases related to Childhood Type Dermatomyositis:



Diseases related to Childhood Type Dermatomyositis

Symptoms & Phenotypes for Childhood Type Dermatomyositis

Human phenotypes related to Childhood Type Dermatomyositis:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Frequent (79-30%) HP:0000989
2 arthralgia 56 32 Frequent (79-30%) HP:0002829
3 constipation 56 32 Frequent (79-30%) HP:0002019
4 fatigue 56 32 Very frequent (99-80%) HP:0012378
5 myalgia 56 32 Very frequent (99-80%) HP:0003326
6 dyspnea 56 32 Occasional (29-5%) HP:0002094
7 fever 56 32 Frequent (79-30%) HP:0001945
8 angina pectoris 56 32 Occasional (29-5%) HP:0001681
9 abdominal pain 56 32 Occasional (29-5%) HP:0002027
10 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
11 dry skin 56 32 Very frequent (99-80%) HP:0000958
12 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
13 dysarthria 56 32 Occasional (29-5%) HP:0001260
14 dysphonia 56 32 Occasional (29-5%) HP:0001618
15 dysphagia 56 32 Occasional (29-5%) HP:0002015
16 arthritis 56 32 Frequent (79-30%) HP:0001369
17 pulmonary fibrosis 56 32 Occasional (29-5%) HP:0002206
18 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
19 emg abnormality 56 32 Occasional (29-5%) HP:0003457
20 weight loss 56 32 Occasional (29-5%) HP:0001824
21 limitation of joint mobility 56 32 Occasional (29-5%) HP:0001376
22 autoimmunity 56 32 Very frequent (99-80%) HP:0002960
23 cardiomyopathy 56 32 Occasional (29-5%) HP:0001638
24 skin ulcer 56 32 Frequent (79-30%) HP:0200042
25 palpebral edema 56 32 Very frequent (99-80%) HP:0100540
26 bundle branch block 56 32 Occasional (29-5%) HP:0011710
27 mucosal telangiectasiae 56 32 Very frequent (99-80%) HP:0100579
28 muscle cramps 56 32 Frequent (79-30%) HP:0003394
29 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
30 erythema 56 32 Very frequent (99-80%) HP:0010783
31 pericarditis 56 32 Occasional (29-5%) HP:0001701
32 skin rash 56 32 Very frequent (99-80%) HP:0000988
33 alopecia 56 32 Frequent (79-30%) HP:0001596
34 cough 56 32 Occasional (29-5%) HP:0012735
35 vasculitis 56 32 Frequent (79-30%) HP:0002633
36 hoarse voice 56 32 Occasional (29-5%) HP:0001609
37 cutaneous photosensitivity 56 32 Frequent (79-30%) HP:0000992
38 elevated c-reactive protein level 56 32 Very frequent (99-80%) HP:0011227
39 myositis 56 32 Very frequent (99-80%) HP:0100614
40 elevated erythrocyte sedimentation rate 56 32 Very frequent (99-80%) HP:0003565
41 poikiloderma 56 32 Frequent (79-30%) HP:0001029
42 calcinosis 56 32 Very frequent (99-80%) HP:0003761
43 arrhythmia 56 Occasional (29-5%)
44 teleangiectasia of the skin 56 Very frequent (99-80%)
45 restrictive lung disease 56 Frequent (79-30%)
46 restrictive ventilatory defect 32 HP:0002091
47 telangiectasia of the skin 32 HP:0100585

Drugs & Therapeutics for Childhood Type Dermatomyositis

Drugs for Childhood Type Dermatomyositis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 4,Phase 3 332348-12-6 10237
2 Vaccines Phase 4
3 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
6 Hormones Phase 4,Phase 3,Phase 2,Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
8 Adrenocorticotropic Hormone Phase 4
9 beta-endorphin Phase 4
10 Melanocyte-Stimulating Hormones Phase 4
11
Cyclosporine Approved, Investigational, Vet_approved Phase 3 79217-60-0, 59865-13-3 5284373 6435893
12
Levoleucovorin Approved Phase 3 68538-85-2
13
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
14
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
15
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
16
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
17
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
18
Alendronate Approved Phase 2, Phase 3 121268-17-5, 66376-36-1 2088
19
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
21
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
22 Antiemetics Phase 3,Phase 2
23 Antifungal Agents Phase 3
24 Anti-Infective Agents Phase 3,Phase 2
25 Anti-Inflammatory Agents Phase 3,Phase 2
26 Antimetabolites Phase 3,Phase 2
27 Antimetabolites, Antineoplastic Phase 3,Phase 2
28 Antineoplastic Agents, Hormonal Phase 3,Phase 2
29 Autonomic Agents Phase 3,Phase 2
30 Calcineurin Inhibitors Phase 3
31 Dermatologic Agents Phase 3,Phase 2
32 Folic Acid Antagonists Phase 3,Phase 2
33 Gastrointestinal Agents Phase 3,Phase 2
34 glucocorticoids Phase 3,Phase 2,Phase 1
35 Methylprednisolone acetate Phase 3,Phase 2
36 Methylprednisolone Hemisuccinate Phase 3,Phase 2
37 Neuroprotective Agents Phase 3,Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
39 Peripheral Nervous System Agents Phase 3,Phase 2
40 Prednisolone acetate Phase 3,Phase 2
41 Prednisolone hemisuccinate Phase 3,Phase 2
42 Prednisolone phosphate Phase 3,Phase 2
43 Protective Agents Phase 3,Phase 2
44 Vitamin B Complex Phase 3,Phase 2
45 Bone Density Conservation Agents Phase 2, Phase 3,Phase 1
46 Analgesics Phase 2, Phase 3
47 Analgesics, Non-Narcotic Phase 2, Phase 3
48 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
49 Folate Nutraceutical Phase 3,Phase 2
50 Vitamin B9 Nutraceutical Phase 3,Phase 2

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
2 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
3 Abatacept in Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4
4 Efficacy and Safety of H.P. Acthar Gel for the Treatment of Refractory Cutaneous Manifestations of Dermatomyositis Recruiting NCT02245841 Phase 4
5 Five-year Actively Controlled Clinical Trial in New Onset Juvenile Dermatomyositis Unknown status NCT00323960 Phase 3
6 Alendronate Osteoporosis Study Completed NCT00277251 Phase 2, Phase 3
7 Combined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With PM and DM Completed NCT00651040 Phase 3
8 Trial to Evaluate the Efficacy and Safety of Abatacept in Combination With Standard Therapy Compared to Standard Therapy Alone in Improving Disease Activity in Adults With Active Idiopathic Inflammatory Myopathy Recruiting NCT02971683 Phase 3
9 Understanding the Pathogenesis and Treatment of Childhood Onset Dermatomyositis Terminated NCT00035958 Phase 2, Phase 3
10 Absorption of Corticosteroids in Children With Juvenile Dermatomyositis Completed NCT00004357 Phase 2
11 Rituximab for the Treatment of Refractory Adult and Juvenile Dermatomyositis (DM) and Adult Polymyositis (PM) Completed NCT00106184 Phase 2
12 Topical Sodium Thiosulfate and Fractional Carbon Dioxide Laser in Treating Dermatomyositis Associated Calcinosis Completed NCT01572844 Phase 2
13 Denosumab for Glucocorticoid-treated Children With Rheumatic Disorders Not yet recruiting NCT02418273 Phase 1, Phase 2
14 Pilot Study of Total Body Irradiation in Combination With Cyclophosphamide, Anti-thymocyte Globulin, and Autologous CD34-Selected Peripheral Blood Stem Cell Transplantation in Children With Refractory Autoimmune Disorders Completed NCT00010335 Phase 1
15 Creatine Supplementation in Pediatric Rheumatology Unknown status NCT01217320
16 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
17 The CARRA Registry Completed NCT01697254
18 Genetic and Family Studies of Inherited Muscle Diseases Completed NCT00001331
19 The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis Recruiting NCT02267005
20 Adult and Juvenile Myositis Recruiting NCT00017914
21 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Active, not recruiting NCT01663129
22 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes Available NCT01724580

Search NIH Clinical Center for Childhood Type Dermatomyositis

Genetic Tests for Childhood Type Dermatomyositis

Anatomical Context for Childhood Type Dermatomyositis

MalaCards organs/tissues related to Childhood Type Dermatomyositis:

39
Skeletal Muscle, Skin, Heart, Lung, Bone

Publications for Childhood Type Dermatomyositis

Variations for Childhood Type Dermatomyositis

Expression for Childhood Type Dermatomyositis

LifeMap Discovery
Genes differentially expressed in tissues of Childhood Type Dermatomyositis patients vs. healthy controls: 35 (show all 35)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 Skeletal Muscle + 5.58 0.000
2 ISG15 ISG15 ubiquitin-like modifier Skeletal Muscle + 5.25 0.000
3 XIST X inactive specific transcript (non-protein coding) Skeletal Muscle + 5.14 0.000
4 RSAD2 radical S-adenosyl methionine domain containing 2 Skeletal Muscle + 4.94 0.000
5 GBP1 guanylate binding protein 1, interferon-inducible Skeletal Muscle + 4.88 0.000
6 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial Skeletal Muscle + 4.61 0.000
7 IFI44L interferon-induced protein 44-like Skeletal Muscle + 4.42 0.000
8 MX1 MX dynamin-like GTPase 1 Skeletal Muscle + 4.40 0.000
9 IFI44 interferon-induced protein 44 Skeletal Muscle + 4.34 0.000
10 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 Skeletal Muscle + 3.96 0.000
11 IFI27 interferon, alpha-inducible protein 27 Skeletal Muscle + 3.86 0.000
12 CXCL11 chemokine (C-X-C motif) ligand 11 Skeletal Muscle + 3.67 0.000
13 RPS4Y1 ribosomal protein S4, Y-linked 1 Skeletal Muscle - 3.57 0.000
14 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 Skeletal Muscle + 3.57 0.000
15 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Skeletal Muscle + 3.54 0.000
16 SAMHD1 SAM domain and HD domain 1 Skeletal Muscle + 3.52 0.000
17 XAF1 XIAP associated factor 1 Skeletal Muscle + 3.44 0.000
18 KLHDC7B kelch domain containing 7B Skeletal Muscle + 3.44 0.000
19 IFI6 interferon, alpha-inducible protein 6 Skeletal Muscle + 3.43 0.000
20 IFIH1 interferon induced with helicase C domain 1 Skeletal Muscle + 3.43 0.000
21 PARP12 poly (ADP-ribose) polymerase family, member 12 Skeletal Muscle + 3.41 0.000
22 IFI16 interferon, gamma-inducible protein 16 Skeletal Muscle + 3.40 0.000
23 PLSCR1 phospholipid scramblase 1 Skeletal Muscle + 3.37 0.000
24 STAT1 signal transducer and activator of transcription 1, 91kDa Skeletal Muscle + 3.37 0.000
25 PSMB8 proteasome subunit beta 8 Skeletal Muscle + 3.35 0.000
26 NNMT nicotinamide N-methyltransferase Skeletal Muscle + 3.31 0.000
27 TRIM22 tripartite motif containing 22 Skeletal Muscle + 3.27 0.000
28 DTX3L deltex 3 like, E3 ubiquitin ligase Skeletal Muscle + 3.23 0.000
29 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 Skeletal Muscle + 3.14 0.000
30 IRF7 interferon regulatory factor 7 Skeletal Muscle + 3.13 0.000
31 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa Skeletal Muscle + 3.09 0.000
32 IFITM1 interferon induced transmembrane protein 1 Skeletal Muscle + 3.06 0.000
33 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 Skeletal Muscle + 3.05 0.000
34 PARP9 poly (ADP-ribose) polymerase family, member 9 Skeletal Muscle + 3.05 0.000
35 POSTN periostin, osteoblast specific factor Skeletal Muscle + 3.03 0.000
Search GEO for disease gene expression data for Childhood Type Dermatomyositis.

Pathways for Childhood Type Dermatomyositis

GO Terms for Childhood Type Dermatomyositis

Biological processes related to Childhood Type Dermatomyositis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 interferon-gamma-mediated signaling pathway GO:0060333 8.62 HLA-DQA1 TRIM21

Molecular functions related to Childhood Type Dermatomyositis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.1 DMBX1 DNASE1L3 HOXC11 IFIH1 TRIM21 ZFAT

Sources for Childhood Type Dermatomyositis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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