JDM
MCID: CHL028
MIFTS: 40

Childhood Type Dermatomyositis (JDM) malady

Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases categories

Summaries for Childhood Type Dermatomyositis

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Sources:
42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 5/31/2011

MalaCards: Childhood Type Dermatomyositis, also known as juvenile dermatomyositis, is related to adult dermatomyositis and arthritis, and has symptoms including autoimmunity/autoimmune reaction/autoantibodies, myalgia/muscular pain and interstitial/restrictive pneumopathy/restrictive respiratory syndrome. An important gene associated with Childhood Type Dermatomyositis is HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1), and among its related pathways are Immune response NFAT in immune response and CD28 co-stimulation. Affiliated tissues include skin, heart and lung.

Aliases & Classifications for Childhood Type Dermatomyositis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
juvenile dermatomyositis:
Age of onset: Childhood


Aliases & Descriptions:

childhood type dermatomyositis 8
juvenile dermatomyositis 8 42 48 60
juvenile polymyositis 42 48
dermatomyositis, childhood type 60
childhood dermatomyositis 8
juvenile myositis 42
juvenile dm 48
juvenile pm 48
jdm 42
jpm 42


External Ids:

Disease Ontology8 DOID:14203
MeSH34 D003882
NCIt39 C27576
ICD10 via Orphanet26 M33.2, M33.0
SNOMED-CT56 1212005, 201446001
SNOMED-CT via Orphanet57 1212005
UMLS via Orphanet61 C0263666, C2931785
ICD1025 M33.0

Related Diseases for Childhood Type Dermatomyositis

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Childhood Type Dermatomyositis:



Diseases related to childhood type dermatomyositis

Clinical Features for Childhood Type Dermatomyositis

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Sources:
48Orphanet
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Symptoms:

48 (show all 44)
  • autoimmunity/autoimmune reaction/autoantibodies
  • myalgia/muscular pain
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • cough
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • skin photosensitivity
  • telangiectasiae of the skin
  • pruritus/itching
  • telangiectasiae of mucosae
  • acute abdominal pain/colic
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • telangiectasic erythema/poikiloderma
  • alopecia
  • palpebral edema/periorbital edema
  • vascularitis/vasculitides/arteritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • periarticular tissue anomaly/extraarticular calcifications
  • angor pectoris/myocardial infarction
  • follicular/erythematous/edematous papules/milium
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • fever/chilling
  • asthenia/fatigue/weakness
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • restricted joint mobility/joint stiffness/ankylosis
  • arthritis/synovitis/synovial proliferation
  • muscle weakness/flaccidity
  • hypotonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • elocution disorders/dysarthria/dysphonia
  • constipation
  • articular/joint pain/arthralgia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • cutaneous rash
  • chronic skin infection/ulcerations/ulcers/cancrum
  • dry/squaly skin/exfoliation
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • cardiac rhythm disorder/arrhythmia
  • abnormal emg/electromyogram/electropmyography
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • cardiomyopathy/hypertrophic/dilated
  • lung fibrosis
  • abnormal cry/voice/phonation disorder/nasal speech
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

Drugs & Therapeutics for Childhood Type Dermatomyositis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Childhood Type Dermatomyositis

Drug clinical trials:

Search ClinicalTrials for Childhood Type Dermatomyositis

Search NIH Clinical Center for Childhood Type Dermatomyositis

Search CenterWatch for Childhood Type Dermatomyositis

Genetic Tests for Childhood Type Dermatomyositis

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Anatomical Context for Childhood Type Dermatomyositis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Childhood Type Dermatomyositis:

32
Skin, Heart, Lung, Bone

Animal Models for Childhood Type Dermatomyositis or affiliated genes

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Publications for Childhood Type Dermatomyositis

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Genetic Variations for Childhood Type Dermatomyositis

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Expression for genes affiliated with Childhood Type Dermatomyositis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Childhood Type Dermatomyositis

Search GEO for disease gene expression data for Childhood Type Dermatomyositis.

Pathways for genes affiliated with Childhood Type Dermatomyositis

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Sources:
12EMD Millipore, 53Reactome, 51QIAGEN, 29KEGG
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Pathways related to Childhood Type Dermatomyositis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Immune response NFAT in immune response
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9.2HLA-DQA2, HLA-DQA1
2
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9.2HLA-DQA2, HLA-DQA1
3
Immune response ICOS pathway in T-helper cell
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9.2HLA-DQA1, HLA-DQA2
49.2HLA-DQA1, HLA-DQA2
5
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9.2HLA-DQA1, HLA-DQA2
69.2HLA-DQA2, HLA-DQA1
79.2HLA-DQA1, HLA-DQA2
89.2HLA-DQA2, HLA-DQA1
99.2HLA-DQA2, HLA-DQA1
10
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9.2HLA-DQA2, HLA-DQA1
11
Immune response Antigen presentation by MHC class II
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9.2HLA-DQA2, HLA-DQA1
129.2HLA-DQA2, HLA-DQA1
139.2HLA-DQA1, HLA-DQA2
149.2HLA-DQA1, HLA-DQA2
15
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9.2HLA-DQA2, HLA-DQA1
16
Hide members
8.7IFIT3, HLA-DQA2, HLA-DQA1

Compounds for genes affiliated with Childhood Type Dermatomyositis

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GO Terms for genes affiliated with Childhood Type Dermatomyositis

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Sources:
16Gene Ontology
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Cellular components related to Childhood Type Dermatomyositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.4HLA-DQA1, HLA-DQA2
2clathrin-coated endocytic vesicle membraneGO:0306699.4HLA-DQA2, HLA-DQA1
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DQA1, HLA-DQA2
4transport vesicle membraneGO:0306589.2HLA-DQA2, HLA-DQA1
5endosome membraneGO:0100089.2HLA-DQA2, HLA-DQA1
6trans-Golgi network membraneGO:0325889.1HLA-DQA1, HLA-DQA2
7endocytic vesicle membraneGO:0306668.9HLA-DQA2, HLA-DQA1
8ER to Golgi transport vesicle membraneGO:0125078.9STX17, HLA-DQA2, HLA-DQA1
9lysosomal membraneGO:0057658.9STX17, HLA-DQA2, HLA-DQA1

Biological processes related to Childhood Type Dermatomyositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interferon-gamma-mediated signaling pathwayGO:0603339.2HLA-DQA1, HLA-DQA2
2antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.2HLA-DQA2, HLA-DQA1
3T cell costimulationGO:0312959.1HLA-DQA2, HLA-DQA1
4T cell receptor signaling pathwayGO:0508528.9HLA-DQA1, HLA-DQA2
5cytokine-mediated signaling pathwayGO:0192218.8HLA-DQA1, HLA-DQA2, IFIT3

Molecular functions related to Childhood Type Dermatomyositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.2HLA-DQA1, HLA-DQA2

Products for genes affiliated with Childhood Type Dermatomyositis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Childhood Type Dermatomyositis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet