MCID: HYP088
MIFTS: 41

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 50 46 52 12 48
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 46 23 68
Hyper Igd Syndrome 46 23
Hids 52 68
Hyperimmunoglobulinemia D with Periodic Fever 52
Hyperimmunoglobinemia D with Recurrent Fever 52
 
Partial Mevalonate Kinase Deficiency 52
Hyperimmunoglobulinemia D Syndrome 52
Periodic Fever, Dutch Type 23
Periodic Fever Dutch Type 46
Hyperimmunoglobulinemia D 66

Characteristics:

Orphanet epidemiological data:

52
hyper-igd syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy

HPO:

62
hyper-igd syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 260920
Orphanet52 ORPHA343
ICD10 via Orphanet29 E85.0
MedGen35 C0398691

Summaries for Hyper-Igd Syndrome

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NIH Rare Diseases:46 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 mevalonic aciduria and hystrix-like ichthyosis with deafness, and has symptoms including abdominal pain, gastrointestinal hemorrhage and hepatomegaly. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase), and among its related pathways is Selenium Pathway. Affiliated tissues include skin, lymph node and bone.

UniProtKB/Swiss-Prot:68 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:50 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1mevalonic aciduria11.6
2hystrix-like ichthyosis with deafness11.4
3kid syndrome11.4
4amyloidosis10.3
5multiple sclerosis 510.3MVK, TNFRSF1A
6hyper-igd syndrome10.3IL1RN, MVK
7lens disease10.1IL1RN, TNFRSF1A
8afibrinogenemia, congenital10.1SAA1, TNFRSF1A
9glomerulonephritis10.0
10keratopathy10.0
11crescentic glomerulonephritis10.0
12pericarditis10.0
13suppurative lymphadenitis10.0CRP, MVK
14mesenteric vascular occlusion9.9CRP, SAA1
15carbon baby syndrome9.9CRP, IL1RN
16atrophic vulva9.9CRP, IL1RN
17stromal predominant kidney wilms' tumor9.9CRP, IL1RN
18silo filler's disease9.9CRP, IL1RN
19cerebral hemorrhage9.9CRP, IL1RN
20kidney rhabdoid cancer9.9CRP, TNFRSF1A
21lower gum cancer9.9SAA1, TNFRSF1A
22pyrimidine metabolic disorder9.9CRP, IL1RN
23oral candidiasis9.9CRP, IL1RN
24muckle-wells syndrome9.8CRP, TNFRSF1A
25radioulnar synostosis retinal pigment abnormalities9.8CRP, TNFRSF1A
26early congenital syphilis9.8CRP, IL1RN
27bladder neck cancer9.8CRP, TNFRSF1A
28cinca syndrome9.8IL1RN, MVK, TNFRSF1A
29nephrosclerosis9.8CRP, TNFRSF1A
30benign peritoneal mesothelioma9.8CRP, TNFRSF1A
31alopecia9.8CRP, TNFRSF1A
32esophagus melanoma9.8CRP, IL1RN
33dermatitis herpetiformis, familial9.8CRP, IL1RN
34sternum lymphoma9.7CRP, IL1RN
35xanthomatosis9.7CRP, IL1RN
36gastric tubular adenocarcinoma9.7CRP, IL1RN
37palmoplantar keratosis9.7CRP, IL1RN
38chronic rhinitis9.6CRP, IL1RN
39autoimmune hepatitis9.6CRP, SAA1
40leprosy 49.4CRP, TNFRSF1A
41primrose syndrome9.4CRP, IL1RN, TNFRSF1A
42psoriasis susceptibility 19.4CRP, IL1RN, TNFRSF1A
43goodpasture syndrome9.2CRP, IL1RN
44pyloric stenosis, infantile hypertrophic, 29.1CRP, MVK, SAA1, TNFRSF1A
45malaria9.1CRP, IL1RN, TNFRSF1A
46rheumatoid arthritis9.0CRP, IL1RN, SAA1, TNFRSF1A
47porokeratosis 3, disseminated superficial actinic8.0CRP, 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

Symptoms:

 52 (show all 26)
  • purpura
  • urticaria
  • acrocyanosis
  • seizures
  • ataxia
  • global developmental delay
  • arthritis
  • limitation of joint mobility
  • growth delay
  • episodic fever
  • diarrhea
  • abdominal pain
  • migraine
  • gastrointestinal hemorrhage
  • hepatomegaly
  • peritonitis
  • vasculitis
  • lymphadenopathy
  • arthralgia
  • increased iga level
  • myalgia
  • elevated erythrocyte sedimentation rate
  • intestinal obstruction
  • erythema
  • recurrent aphthous stomatitis
  • papule

HPO human phenotypes related to Hyper-Igd Syndrome:

(show all 39)
id Description Frequency HPO Source Accession
1 abdominal pain hallmark (90%) HP:0002027
2 gastrointestinal hemorrhage hallmark (90%) HP:0002239
3 hepatomegaly hallmark (90%) HP:0002240
4 lymphadenopathy hallmark (90%) HP:0002716
5 arthralgia hallmark (90%) HP:0002829
6 myalgia hallmark (90%) HP:0003326
7 abnormality of temperature regulation hallmark (90%) HP:0004370
8 abnormality of the oral cavity typical (50%) HP:0000163
9 urticaria typical (50%) HP:0001025
10 arthritis typical (50%) HP:0001369
11 diarrhea typical (50%) HP:0002014
12 migraine typical (50%) HP:0002076
13 vasculitis typical (50%) HP:0002633
14 acrocyanosis occasional (7.5%) HP:0001063
15 seizures occasional (7.5%) HP:0001250
16 limitation of joint mobility occasional (7.5%) HP:0001376
17 subcutaneous hemorrhage occasional (7.5%) HP:0001933
18 incoordination occasional (7.5%) HP:0002311
19 peritonitis occasional (7.5%) HP:0002586
20 intestinal obstruction occasional (7.5%) HP:0005214
21 abnormal immunoglobulin level occasional (7.5%) HP:0010701
22 cognitive impairment occasional (7.5%) HP:0100543
23 rod-cone dystrophy rare (5%) HP:0000510
24 optic disc pallor HP:0000543
25 nyctalopia HP:0000662
26 skin rash HP:0000988
27 hypermelanotic macule HP:0001034
28 arthritis HP:0001369
29 splenomegaly HP:0001744
30 leukocytosis HP:0001974
31 vomiting HP:0002013
32 diarrhea HP:0002014
33 abdominal pain HP:0002027
34 headache HP:0002315
35 vertigo HP:0002321
36 lymphadenopathy HP:0002716
37 arthralgia HP:0002829
38 increased iga level HP:0003261
39 elevated erythrocyte sedimentation rate HP:0003565

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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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 DeficiencyRecruitingNCT01568736
3Familial Mediterranean Fever and Related Disorders: Genetics and Disease CharacteristicsRecruitingNCT00001373
4Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyRecruitingNCT00260299

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 Syndrome23 MVK

Anatomical Context for Hyper-Igd Syndrome

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MalaCards organs/tissues related to Hyper-Igd Syndrome:

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

68 (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 16)
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.1129G> A (p.Val377Ile)single nucleotide variantPathogenicrs28934897GRCh37Chr 12, 110034320: 110034320
2MVKNM_000431.3(MVK): c.1000G> A (p.Ala334Thr)single nucleotide variantPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
3MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)single nucleotide variantPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
4MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)single nucleotide variantPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
5MVKNM_000431.3(MVK): c.494C> T (p.Pro165Leu)single nucleotide variantPathogenicrs121917790GRCh37Chr 12, 110019322: 110019322
6MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)single nucleotide variantPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
7MVKNM_000431.3(MVK): c.16_34del (p.Leu6Glyfs)deletionPathogenicrs104895334GRCh37Chr 12, 110012643: 110012661
8MVKNM_000431.3(MVK): c.500C> T (p.Pro167Leu)single nucleotide variantPathogenicrs104895300GRCh37Chr 12, 110019328: 110019328
9MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 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)single nucleotide variantPathogenicrs104895360GRCh37Chr 12, 110034353: 110034353
14MVKNM_000431.3(MVK): c.346T> C (p.Tyr116His)single nucleotide variantPathogenicrs104895382GRCh37Chr 12, 110017726: 110017726
15MVKNM_000431.3(MVK): c.442G> A (p.Ala148Thr)single nucleotide variantPathogenicrs104895298GRCh37Chr 12, 110019270: 110019270
16MVKNM_000431.3(MVK): c.608T> C (p.Val203Ala)single nucleotide variantPathogenicrs104895332GRCh37Chr 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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Pathways related to Hyper-Igd Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4CRP, SAA1

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:00069539.7CRP, SAA1
2opsonizationGO:00082289.7CRP, PTX3
3negative regulation of inflammatory responseGO:00507289.5MVK, SAA1, TNFRSF1A
4inflammatory responseGO:00069548.8CRP, PTX3, TNFRSF1A

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

idNameGO IDScoreTop Affiliating Genes
1virion bindingGO:00467909.3CRP, PTX3
2complement component C1q bindingGO:00018499.0CRP, PTX3

Sources for Hyper-Igd Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet