HIDS
MCID: HYP088
MIFTS: 52

Hyper-Igd Syndrome (HIDS) malady

Bone diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Summaries for Hyper-Igd Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hyper igd syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. most episodes last several days and occur periodically throughout life. the frequency of episodes and their severity vary greatly from case to case.  hyper igd syndrome is caused by mutations in the gene encoding mevalonate kinase (mvk). it is inherited in an autosomal recessive manner.  last updated: 3/5/2013

MalaCards: Hyper-Igd Syndrome, also known as hyper igd syndrome, is related to amyloidosis and mevalonic aciduria, and has symptoms including erythema/erythematous lesions/erythroderma/polymorphous erythema, purpura/petichiae and intestinal obstruction/ileus. An important gene associated with Hyper-Igd Syndrome is MVK (mevalonate kinase), and among its related pathways are Development Thrombopoetin signaling via JAK-STAT pathway and Signal transduction JNK pathway. The compounds fmlp and amphotericin b have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone.

Description from OMIM:46 260920

Aliases & Classifications for Hyper-Igd Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Bone diseases, Skin diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hyper-igd syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyper-igd syndrome 42 46 44 48
hyper igd syndrome 42 20
hyperimmunoglobulinemia d and periodic fever syndrome 42
hyperimmunoglobulinemia d with periodic fever 48
hyperimmunoglobinemia d with recurrent fever 48
partial mevalonate kinase deficiency 48
hyperimmunoglobulinemia d syndrome 48
periodic fever dutch type 42
hyperimmunoglobulinemia d 60
hids 48


External Ids:

OMIM46 260920
ICD10 via Orphanet26 E88.8
SNOMED-CT via Orphanet57 234538002

Related Diseases for Hyper-Igd Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyper-Igd Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.6SAA1, CRP, TNFRSF1A
2mevalonic aciduria30.5MVK, IL1RN
3glomerulonephritis30.3IL1RN
4familial mediterranean fever30.3TNFRSF1A, TNF
5vasculitis30.1PTX3, CRP, TNF
6crescentic glomerulonephritis10.2
7keratopathy10.2
8pericarditis10.2
9ichthyosis, hystrix-like, with deafness10.1
10retinal vasculitis10.1
11retinitis10.1
12recurrent fever multi-gene panels10.1
13hyperimmunoglobulin syndrome10.0
14kid syndrome10.0
15schnitzler syndrome10.0IL1RN
16polymyositis10.0IL1RN
17dermatomyositis10.0IL1RN
18cataract10.0MVK
19nephritis10.0IL1RN
20alopecia areata10.0IL1RN
21brucellosis10.0SAA1
22dengue shock syndrome10.0IL1RN
23myositis10.0IL1RN
24malaria10.0TNF
25pyoderma gangrenosum10.0MVK
26interstitial lung disease10.0TNF
27paracoccidioidomycosis10.0TNFRSF1A
28primary hyperoxaluria10.0TNF
29hepatitis b10.0TNFRSF1A
30myeloma10.0TNFRSF1A
31graves' disease10.0IL1RN
32common variable immune deficiency10.0TNFRSF1A
33muckle-wells syndrome10.0TNFRSF1A
34viral hepatitis10.0TNFRSF1A
35leishmaniasis10.0TNFRSF1A
36adult-onset still's disease10.0CRP
37polycystic ovary syndrome10.0CRP
38coronary heart disease10.0CRP
39hypertension10.0CRP
40kawasaki disease10.0CRP
41hypercholesterolemia10.0CRP
42osteomyelitis10.0CRP
43aortic aneurysm10.0CRP
44hyperglycemia10.0CRP
45epidural abscess10.0CRP
46cowpox10.0TNFRSF1A
47asthma10.0TNF
48systemic lupus erythematosus10.0CRP
49eye disease10.0CRP
50alzheimer's disease10.0TNFRSF1A

Graphical network of the top 20 diseases related to Hyper-Igd Syndrome:



Diseases related to hyper-igd syndrome

Clinical Features for Hyper-Igd Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

260920

Clinical synopsis from OMIM:

260920

Symptoms:

48 (show all 28)
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • purpura/petichiae
  • intestinal obstruction/ileus
  • peritonitis/peritoneal abscess
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • ataxia/incoordination/trouble of the equilibrium
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • restricted joint mobility/joint stiffness/ankylosis
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • arthritis/synovitis/synovial proliferation
  • facial pain/cephalalgia/migraine
  • vascularitis/vasculitides/arteritis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • lymphadenopathy/polyadenopathies
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • fever/chilling
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • urticaria
  • follicular/erythematous/edematous papules/milium
  • enanthema/aphtosa/aphta/leukoplakia
  • dermal/subcutaneous infiltration/induration
  • acute diarrhea
  • acute abdominal pain/colic

Drugs & Therapeutics for Hyper-Igd Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hyper-Igd Syndrome

Drug clinical trials:

Search ClinicalTrials for Hyper-Igd Syndrome

Search NIH Clinical Center for Hyper-Igd Syndrome

Search CenterWatch for Hyper-Igd Syndrome

Genetic Tests for Hyper-Igd Syndrome

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Sources:
20GeneTests
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Genetic tests related to Hyper-Igd Syndrome:

id Genetic test Affiliating Genes
1 Hyper Igd Syndrome20 MVK

Anatomical Context for Hyper-Igd Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Hyper-Igd Syndrome:

32
Skin, Liver, Bone

Animal Models for Hyper-Igd Syndrome or affiliated genes

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Publications for Hyper-Igd Syndrome

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Genetic Variations for Hyper-Igd Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyper-Igd Syndrome:

62 (show all 21)
id Symbol AA change Variation ID SNP ID
1MVKp.His20ProVAR_004022
2MVKp.Pro167LeuVAR_004023
3MVKp.Ile268ThrVAR_004024
4MVKp.Val377IleVAR_004027rs28934897
5MVKp.Val310MetVAR_009068
6MVKp.His20AsnVAR_010956rs11544299
7MVKp.Leu39ProVAR_010957
8MVKp.Ser135LeuVAR_010959
9MVKp.Ala148ThrVAR_010960
10MVKp.Ser150LeuVAR_010961
11MVKp.Gly202ArgVAR_010962
12MVKp.Arg215GlnVAR_010963
13MVKp.Gly309SerVAR_010967
14MVKp.Gly326ArgVAR_010968
15MVKp.His20GlnVAR_029519
16MVKp.Val132IleVAR_029520
17MVKp.Gly171ArgVAR_029521
18MVKp.Gly211GluVAR_029522
19MVKp.Val250IleVAR_029523
20MVKp.Leu265ArgVAR_029524
21MVKp.Gly376ValVAR_029527

Expression for genes affiliated with Hyper-Igd Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyper-Igd Syndrome

Search GEO for disease gene expression data for Hyper-Igd Syndrome.

Pathways for genes affiliated with Hyper-Igd Syndrome

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Sources:
4Cell Signaling Technology, 12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Hyper-Igd Syndrome

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB, 24HMDB
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Compounds related to Hyper-Igd Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1fmlp4410.3IL1RN
2amphotericin b4410.3IL1RN
3bcma4410.3TNFRSF1A
4prednisolone44 28 1112.2CRP
5nh4cl4410.0TNFRSF1A
6endotoxin449.9TNFRSF1A, SAA1
7toxin-1449.5TNF, IL1RN
8cuprophan449.5IL1RN, TNFRSF1A
9gold sodium thiomalate449.5TNF, IL1RN
10blys449.4TNFRSF1A, TNF
11actinomycin449.4TNF, TNFRSF1A
12tocilizumab44 1110.4CRP, TNF
13cdp571449.4CRP, TNF
14tab-1449.4TNFRSF1A, TNF
15hydroxychloroquine44 1110.4TNF, CRP
16polysulfone449.3IL1RN, CRP
17nash449.3TNF, TNFRSF1A
18zymosan449.3TNF, IL1RN
19polyethylene glycol449.3IL1RN, TNFRSF1A, CRP
20p002449.3CRP, TNFRSF1A, IL1RN
21leflunomide49 44 1111.1IL1RN, TNF, TNFRSF1A
22ns 39844 5910.1IL1RN, TNF, TNFRSF1A
23manganese superoxide449.1TNF, IL1RN, TNFRSF1A
24chloroquine44 2 49 28 1113.1TNFRSF1A, TNF, IL1RN
25tgf beta1449.1TNFRSF1A, IL1RN, TNF
26adalimumab44 49 1111.1CRP, TNF, IL1RN
27sulfasalazine44 28 49 1112.0CRP, TNF, IL1RN
28tenidap44 2810.0SAA1, CRP, TNF
29atorvastatin44 49 28 11 2413.0IL1RN, TNF, CRP
30rosiglitazone44 49 28 11 2413.0IL1RN, CRP, TNF
31okt3448.9CRP, TNF, TNFRSF1A
32rantes448.8TNFRSF1A, TNF, IL1RN
33prostacyclin448.8TNFRSF1A, TNF, CRP
34anakinra44 119.7MVK, TNF, CRP, IL1RN
35fibrinogen448.6SAA1, TNF, CRP, IL1RN
36etanercept44 49 1110.5IL1RN, TNF, TNFRSF1A, CRP
37infliximab44 49 1110.5CRP, TNFRSF1A, IL1RN, TNF
38ivig448.5TNF, CRP, IL1RN, TNFRSF1A
39neopterin448.5IL1RN, CRP, TNF, TNFRSF1A
40methotrexate44 49 1110.5TNFRSF1A, CRP, IL1RN, TNF
41sb 20358044 599.5TNF, TNFRSF1A, IL1RN, CRP
42alanine448.5MVK, IL1RN, SAA1, TNFRSF1A, CRP
43creatinine448.5PTX3, TNFRSF1A, MVK, CRP, IL1RN
44nitric oxide44 11 2410.3TNFRSF1A, TNF, IL1RN, PTX3
45vegf448.3TNF, IL1RN, TNFRSF1A, CRP
46n acetylcysteine448.2TNFRSF1A, TNF, CRP
47dexamethasone44 49 28 1111.1SAA1, PTX3, IL1RN, TNFRSF1A, TNF
48cholesterol44 28 11 2411.0IL1RN, PTX3, MVK, SAA1, TNFRSF1A, CRP
49simvastatin44 49 59 28 11 2412.7SAA1, IL1RN, CRP, TNF, TNFRSF1A, MVK
50lipid447.7MVK, SAA1, TNFRSF1A, TNF, CRP, IL1RN

GO Terms for genes affiliated with Hyper-Igd Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Hyper-Igd Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1IL1RN, CRP, TNF, TNFRSF1A
2extracellular regionGO:0055767.2PTX3, CRP, TNF, TNFRSF1A, SAA1

Biological processes related to Hyper-Igd Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1opsonizationGO:0082289.5PTX3, CRP
2chronic inflammatory response to antigenic stimulusGO:0024399.5IL1RN, TNF
3negative regulation of inflammatory responseGO:0507289.4SAA1, TNFRSF1A, MVK
4positive regulation of cytokine secretionGO:0507159.3SAA1, TNF
5acute-phase responseGO:0069539.3IL1RN, CRP, SAA1
6positive regulation of JUN kinase activityGO:0435079.2TNF, IL1RN
7negative regulation of interleukin-6 productionGO:0327159.2TNF, TNFRSF1A
8negative regulation of lipid storageGO:0108889.2CRP, TNF
9extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.0TNFRSF1A, TNF
10defense response to Gram-positive bacteriumGO:0508309.0CRP, TNF
11positive regulation of nitric oxide biosynthetic processGO:0454298.8TNF, PTX3
12response to hypoxiaGO:0016668.7CRP, TNFRSF1A, TNF
13inflammatory responseGO:0069548.2TNF, CRP, PTX3, TNFRSF1A

Products for genes affiliated with Hyper-Igd Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyper-Igd Syndrome

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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