MCID: HYP088
MIFTS: 43

Hyper-Igd Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Hyper-Igd Syndrome

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Aliases & Descriptions for Hyper-Igd Syndrome:

Name: Hyper-Igd Syndrome 51 47 53 12 49
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 47 24 69
Hyper Igd Syndrome 47 24
Hids 53 69
Hyperimmunoglobulinemia D with Periodic Fever 53
Hyperimmunoglobinemia D with Recurrent Fever 53
 
Partial Mevalonate Kinase Deficiency 53
Hyperimmunoglobulinemia D Syndrome 53
Deficiency of Mevalonate Kinase 67
Periodic Fever, Dutch Type 24
Periodic Fever Dutch Type 47
Hyperimmunoglobulinemia D 67

Characteristics:

Orphanet epidemiological data:

53
hyper-igd syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy

HPO:

63
hyper-igd syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 260920
Orphanet53 ORPHA343
ICD10 via Orphanet30 E85.0
MedGen36 C0398691

Summaries for Hyper-Igd Syndrome

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NIH Rare Diseases:47 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 based summary: Hyper-Igd Syndrome, also known as hyperimmunoglobulinemia d and periodic fever syndrome, is related to hystrix-like ichthyosis with deafness and mevalonic aciduria, and has symptoms including abdominal pain, gastrointestinal hemorrhage and hepatomegaly. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase). Affiliated tissues include skin, lymph node and bone.

UniProtKB/Swiss-Prot:69 Hyperimmunoglobulinemia D and periodic fever syndrome: Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.

Description from OMIM:51 260920

Related Diseases for Hyper-Igd Syndrome

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Diseases related to Hyper-Igd Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1hystrix-like ichthyosis with deafness11.6
2mevalonic aciduria11.4
3kid syndrome11.3
4suppurative lymphadenitis10.3CRP, MVK
5carbon baby syndrome10.2CRP, IL1RN
6atrophic vulva10.2CRP, IL1RN
7stromal predominant kidney wilms' tumor10.2CRP, IL1RN
8silo filler's disease10.2CRP, IL1RN
9amyloidosis10.2
10cerebral hemorrhage10.2CRP, IL1RN
11pyrimidine metabolic disorder10.2CRP, IL1RN
12mesenteric vascular occlusion10.2CRP, SAA1
13oral candidiasis10.2CRP, IL1RN
14multiple sclerosis 510.2MVK, TNFRSF1A
15early congenital syphilis10.1CRP, IL1RN
16esophagus melanoma10.1CRP, IL1RN
17kidney rhabdoid cancer10.1CRP, TNFRSF1A
18dermatitis herpetiformis, familial10.1CRP, IL1RN
19sternum lymphoma10.1CRP, IL1RN
20muckle-wells syndrome10.1CRP, TNFRSF1A
21xanthomatosis10.1CRP, IL1RN
22bladder neck cancer10.1CRP, TNFRSF1A
23nephrosclerosis10.0CRP, TNFRSF1A
24benign peritoneal mesothelioma10.0CRP, TNFRSF1A
25gastric tubular adenocarcinoma10.0CRP, IL1RN
26alopecia10.0CRP, TNFRSF1A
27palmoplantar keratosis10.0CRP, IL1RN
28lens disease10.0IL1RN, TNFRSF1A
29chronic rhinitis10.0CRP, IL1RN
30afibrinogenemia, congenital10.0SAA1, TNFRSF1A
31glomerulonephritis9.9
32keratopathy9.9
33crescentic glomerulonephritis9.9
34pericarditis9.9
35leprosy 49.8CRP, TNFRSF1A
36lower gum cancer9.8SAA1, TNFRSF1A
37goodpasture syndrome9.8CRP, IL1RN
38cinca syndrome9.7IL1RN, MVK, TNFRSF1A
39primrose syndrome9.7CRP, IL1RN, TNFRSF1A
40psoriasis susceptibility 19.7CRP, IL1RN, TNFRSF1A
41autoimmune hepatitis9.6CRP, SAA1
42malaria9.4CRP, IL1RN, TNFRSF1A
43pyloric stenosis, infantile hypertrophic, 29.3CRP, MVK, SAA1, TNFRSF1A
44rheumatoid arthritis9.2CRP, IL1RN, SAA1, TNFRSF1A
45porokeratosis 3, disseminated superficial actinic8.2CRP, IL1RN, MVK, PTX3, SAA1, TNFRSF1A

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



Diseases related to hyper-igd syndrome

Symptoms for Hyper-Igd Syndrome

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Symptoms by clinical synopsis from OMIM:

260920

Clinical features from OMIM:

260920

Human phenotypes related to Hyper-Igd Syndrome:

 63 53 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002027
2 gastrointestinal hemorrhage63 53 hallmark (90%) Very frequent (99-80%) HP:0002239
3 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
4 lymphadenopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0002716
5 arthralgia63 53 hallmark (90%) Very frequent (99-80%) HP:0002829
6 myalgia63 53 hallmark (90%) Very frequent (99-80%) HP:0003326
7 abnormality of temperature regulation63 hallmark (90%) HP:0004370
8 abnormality of the oral cavity63 typical (50%) HP:0000163
9 urticaria63 53 typical (50%) Frequent (79-30%) HP:0001025
10 arthritis63 53 typical (50%) Frequent (79-30%) HP:0001369
11 diarrhea63 53 typical (50%) Frequent (79-30%) HP:0002014
12 migraine63 53 typical (50%) Frequent (79-30%) HP:0002076
13 vasculitis63 53 typical (50%) Frequent (79-30%) HP:0002633
14 acrocyanosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001063
15 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
16 limitation of joint mobility63 53 occasional (7.5%) Occasional (29-5%) HP:0001376
17 subcutaneous hemorrhage63 occasional (7.5%) HP:0001933
18 incoordination63 occasional (7.5%) HP:0002311
19 peritonitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002586
20 intestinal obstruction63 53 occasional (7.5%) Occasional (29-5%) HP:0005214
21 abnormal immunoglobulin level63 occasional (7.5%) HP:0010701
22 cognitive impairment63 occasional (7.5%) HP:0100543
23 rod-cone dystrophy63 rare (5%) HP:0000510
24 optic disc pallor63 HP:0000543
25 nyctalopia63 HP:0000662
26 skin rash63 HP:0000988
27 hypermelanotic macule63 HP:0001034
28 splenomegaly63 HP:0001744
29 leukocytosis63 HP:0001974
30 vomiting63 HP:0002013
31 headache63 HP:0002315
32 vertigo63 HP:0002321
33 increased iga level63 53 Very frequent (99-80%) HP:0003261
34 elevated erythrocyte sedimentation rate63 53 Very frequent (99-80%) HP:0003565
35 purpura53 Occasional (29-5%)
36 ataxia53 Occasional (29-5%)
37 global developmental delay53 Occasional (29-5%)
38 growth delay53 Occasional (29-5%)
39 episodic fever53 Very frequent (99-80%)
40 erythema53 Occasional (29-5%)
41 recurrent aphthous stomatitis53 Frequent (79-30%)
42 papule53 Frequent (79-30%)

UMLS symptoms related to Hyper-Igd Syndrome:


abdominal pain, arthralgia, diarrhea, exanthema, headache, vomiting, macular rash, erythema scarlatiniforme, mucocutaneous rash, nodular rash

Drugs & Therapeutics for Hyper-Igd Syndrome

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Drugs for Hyper-Igd Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ImmunoglobulinsPhase 26045
2Antibodies, MonoclonalPhase 23795
3AntibodiesPhase 26045

Interventional clinical trials:

idNameStatusNCT IDPhase
1Canakinumab in Patients With Active Hyper-IgD SyndromeCompletedNCT01303380Phase 2
2B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase DeficiencyUnknown statusNCT01568736
3Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyUnknown statusNCT00260299
4Familial Mediterranean Fever and Related Disorders: Genetics and Disease CharacteristicsRecruitingNCT00001373

Search NIH Clinical Center for Hyper-Igd Syndrome

Genetic Tests for Hyper-Igd Syndrome

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Genetic tests related to Hyper-Igd Syndrome:

id Genetic test Affiliating Genes
1 Hyper Igd Syndrome24 MVK

Anatomical Context for Hyper-Igd Syndrome

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MalaCards organs/tissues related to Hyper-Igd Syndrome:

35
Skin, Lymph node, Bone, Monocytes

Animal Models for Hyper-Igd Syndrome or affiliated genes

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Publications for Hyper-Igd Syndrome

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Articles related to Hyper-Igd Syndrome:

(show all 38)
idTitleAuthorsYear
1
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever. (27079959)
2016
2
Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy. (26819362)
2016
3
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome. (27856657)
2016
4
Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred. (25708585)
2015
5
Treatment of adult hyper-IgD syndrome with canakinumab. (26116953)
2015
6
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? (25990874)
2015
7
Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. (26516243)
2015
8
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. (23375471)
2013
9
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. (23692791)
2012
10
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). (21607759)
2012
11
Renal amyloidosis due to hyper-IgD syndrome. (23169386)
2012
12
Hyper-IgD syndrome or mevalonate kinase deficiency. (21760510)
2011
13
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. (20346247)
2010
14
Nummular keratopathy in a patient with Hyper-IgD Syndrome. (19656398)
2009
15
Recurrent pericarditis in hyper-IgD syndrome. (19772809)
2009
16
Hyper-IgD syndrome with novel mutation in a Japanese girl. (18941711)
2009
17
A patient with hyper-IgD syndrome responding to simvastatin treatment. (19046710)
2008
18
MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]. (17473510)
2007
19
A patient with hyper-IgD syndrome responding to anti-TNF treatment. (17171314)
2007
20
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. (18008182)
2007
21
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. (17804452)
2007
22
Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints. (16635911)
2006
23
Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? (16931207)
2006
24
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. (16093577)
2005
25
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. (16011988)
2005
26
Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. (15638064)
2004
27
Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. (15324368)
2004
28
A patient with hyper-IgD syndrome in Antalya, Turkey. (15045637)
2004
29
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. (12452839)
2002
30
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? (11486910)
2001
31
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. (11534513)
2001
32
Identification of the gene for hyper-IgD syndrome: a model of modern genetics]. (10800545)
2000
33
Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes. (10969277)
2000
34
Crescentic glomerulonephritis in hyper IgD syndrome. (10229000)
1999
35
Hyper-IgD syndrome and pregnancy. (8886712)
1996
36
Unstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C-reactive protein and serum amyloid A in Hep3B cells. (8683144)
1996
37
Clinical and immunological follow-up in children with hyper-IgD syndrome. (8167736)
1993
38
Hyper-IGD syndrome: a new case treated with colchicine. (3229086)
1988

Variations for Hyper-Igd Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hyper-Igd Syndrome:

69 (show all 21)
id Symbol AA change Variation ID SNP ID
1MVKp.His20ProVAR_004022rs104895295
2MVKp.Pro167LeuVAR_004023rs104895300
3MVKp.Ile268ThrVAR_004024rs104895304
4MVKp.Val377IleVAR_004027rs28934897
5MVKp.Val310MetVAR_009068rs104895319
6MVKp.His20AsnVAR_010956rs11544299
7MVKp.Leu39ProVAR_010957rs104895296
8MVKp.Ser135LeuVAR_010959rs104895297
9MVKp.Ala148ThrVAR_010960rs104895298
10MVKp.Ser150LeuVAR_010961rs747116992
11MVKp.Gly202ArgVAR_010962rs104895301
12MVKp.Arg215GlnVAR_010963rs104895303
13MVKp.Gly309SerVAR_010967rs104895305
14MVKp.Gly326ArgVAR_010968rs104895308
15MVKp.His20GlnVAR_029519rs104895335
16MVKp.Val132IleVAR_029520rs104895336
17MVKp.Gly171ArgVAR_029521rs104895337
18MVKp.Gly211GluVAR_029522rs104895325
19MVKp.Val250IleVAR_029523rs104895339
20MVKp.Leu265ArgVAR_029524rs104895316
21MVKp.Gly376ValVAR_029527rs104895340

Clinvar genetic disease variations for Hyper-Igd Syndrome:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.1129G> A (p.Val377Ile)SNVPathogenicrs28934897GRCh37Chr 12, 110034320: 110034320
2MVKNM_000431.3(MVK): c.1000G> A (p.Ala334Thr)SNVPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
3MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)SNVPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
4MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)SNVPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
5MVKNM_000431.3(MVK): c.494C> T (p.Pro165Leu)SNVPathogenicrs121917790GRCh37Chr 12, 110019322: 110019322
6MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)SNVPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
7MVKNM_000431.3(MVK): c.16_34del (p.Leu6Glyfs)deletionPathogenicrs104895334GRCh38Chr 12, 109574838: 109574856
8MVKNM_000431.3(MVK): c.500C> T (p.Pro167Leu)SNVPathogenicrs104895300GRCh37Chr 12, 110019328: 110019328
9MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)SNVPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
10MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245
11MVKNM_000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012699
12MVKNM_000431.3(MVK): c.421dupG (p.Ala141Glyfs)duplicationPathogenicrs104895323GRCh37Chr 12, 110019249: 110019249
13MVKNM_000431.3(MVK): c.1162C> T (p.Arg388Ter)SNVPathogenicrs104895360GRCh37Chr 12, 110034353: 110034353
14MVKNM_000431.3(MVK): c.346T> C (p.Tyr116His)SNVPathogenicrs104895382GRCh37Chr 12, 110017726: 110017726
15MVKNM_000431.3(MVK): c.442G> A (p.Ala148Thr)SNVPathogenicrs104895298GRCh37Chr 12, 110019270: 110019270
16MVKNM_000431.3(MVK): c.564G> A (p.Trp188Ter)SNVPathogenicrs104895311GRCh37Chr 12, 110023863: 110023863
17MVKNM_000431.3(MVK): c.608T> C (p.Val203Ala)SNVPathogenicrs104895332GRCh37Chr 12, 110023907: 110023907

Expression for genes affiliated with Hyper-Igd Syndrome

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

Pathways for genes affiliated with Hyper-Igd Syndrome

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GO Terms for genes affiliated with Hyper-Igd Syndrome

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Cellular components related to Hyper-Igd Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.5CRP, IL1RN, PTX3, SAA1, TNFRSF1A
2extracellular regionGO:00055767.2CRP, IL1RN, PTX3, SAA1, TNFRSF1A

Biological processes related to Hyper-Igd Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:00069539.8CRP, SAA1
2opsonizationGO:00082289.8CRP, PTX3
3negative regulation of inflammatory responseGO:00507289.3MVK, SAA1, TNFRSF1A
4inflammatory responseGO:00069548.9CRP, PTX3, TNFRSF1A

Molecular functions related to Hyper-Igd Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1virion bindingGO:00467909.5CRP, PTX3
2complement component C1q bindingGO:00018499.2CRP, PTX3

Sources for Hyper-Igd Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet