MCID: HYP088
MIFTS: 45

Hyper-Igd Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Hyper-Igd Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 22GeneTests, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Hyper-Igd Syndrome:

Name: Hyper-Igd Syndrome 49 11 45 47 51
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 45 22 67
Periodic Fever Dutch Type 45 22
Hyper Igd Syndrome 45 22
Hids 51 67
 
Hyperimmunoglobulinemia D with Periodic Fever 51
Hyperimmunoglobinemia D with Recurrent Fever 51
Partial Mevalonate Kinase Deficiency 51
Hyperimmunoglobulinemia D Syndrome 51
Hyperimmunoglobulinemia D 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
hyper-igd syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy


External Ids:

OMIM49 260920
Orphanet51 343
ICD10 via Orphanet28 E85.0
MedGen34 C0398691

Summaries for Hyper-Igd Syndrome

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NIH Rare Diseases:45 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 pericarditis, 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 liver.

UniProtKB/Swiss-Prot:67 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:49 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 top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1mevalonic aciduria31.0IL1RN, MVK
2pericarditis30.2CRP, TNFRSF1A
3amyloidosis10.5
4hystrix-like ichthyosis with deafness10.4
5adult syndrome10.4
6familial mediterranean fever, ar10.4
7blood protein disease10.4
8hypersensitivity reaction type iv disease10.4
9nutritional deficiency disease10.4
10peroxisomal disease10.4
11plasma protein metabolism disease10.4
12prion disease10.4
13genetic brain disorders10.4
14peroxisomal biogenesis disorders10.4
15peroxisome disorders10.4
16encephalopathy10.4
17c syndrome10.2
18williams-beuren syndrome10.2
19roberts syndrome10.2
20immunoglobulin a deficiency 210.2
21child syndrome10.2
22glomerulonephritis10.2
23keratopathy10.2
24protein c deficiency10.2
25crescentic glomerulonephritis10.2
26ipex syndrome10.2
27factor 2 deficiency10.2
28kid syndrome10.2
29periodic fever, familial10.1MVK, TNFRSF1A
30cryopyrin-associated periodic syndrome10.1
31familial colorectal cancer10.1SAA1, TNFRSF1A
32discitis10.1IL1RN, TNFRSF1A
33muckle-wells syndrome10.1IL1RN, TNFRSF1A
34amyloidosis, familial visceral10.0SAA1, TNFRSF1A
35cervical adenocarcinoma10.0CRP, MVK
36vulvovaginal candidiasis10.0CRP, MVK
37amyloidosis beta2m10.0CRP, SAA1
38cryptomicrotia brachydactyly syndrome10.0CRP, IL1RN
39acinic cell breast carcinoma10.0CRP, IL1RN
40cataract10.0CRP, IL1RN
41polyclonal hypergammaglobulinemia10.0CRP, TNFRSF1A
42extrahepatic cholestasis10.0CRP, SAA1
43anal canal adenocarcinoma10.0SAA1, TNFRSF1A
44plantar fasciitis10.0CRP, IL1RN
45endocervicitis9.9CRP, IL1RN
46excessive tearing9.9CRP, IL1RN
47cinca syndrome9.9IL1RN, MVK, TNFRSF1A
48bartholin's duct cyst9.9CRP, IL1RN
49obstructive lung disease9.9CRP, MVK
50senile angioma9.9CRP, 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:

 51 (show all 28)
  • acute abdominal pain/colic
  • 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
  • vascularitis/vasculitides/arteritis
  • facial pain/cephalalgia/migraine
  • arthritis/synovitis/synovial proliferation
  • 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

HPO human phenotypes related to Hyper-Igd Syndrome:

(show all 40)
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 autosomal recessive inheritance HP:0000007
25 optic disc pallor HP:0000543
26 nyctalopia HP:0000662
27 skin rash HP:0000988
28 hypermelanotic macule HP:0001034
29 arthritis HP:0001369
30 splenomegaly HP:0001744
31 leukocytosis HP:0001974
32 vomiting HP:0002013
33 diarrhea HP:0002014
34 abdominal pain HP:0002027
35 headache HP:0002315
36 vertigo HP:0002321
37 lymphadenopathy HP:0002716
38 arthralgia HP:0002829
39 increased iga level HP:0003261
40 elevated erythrocyte sedimentation rate HP:0003565

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 Syndrome22 MVK

Anatomical Context for Hyper-Igd Syndrome

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MalaCards organs/tissues related to Hyper-Igd Syndrome:

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

67 (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

Clinvar genetic disease variations for Hyper-Igd Syndrome:

5 (show all 12)
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)deletionPathogenicrs104895334GRCh38Chr 12, 109574838: 109574856
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

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 pathways (with members indented)ScoreTop 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
1opsonizationGO:00082289.9CRP, PTX3
2negative regulation of inflammatory responseGO:00507289.4MVK, SAA1, TNFRSF1A
3acute-phase responseGO:00069538.9CRP, IL1RN, SAA1
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet