MCID: HYP088
MIFTS: 39

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 49 11 45 47 51
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 45 22 67
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
Periodic Fever, Dutch Type 22
Periodic Fever Dutch Type 45
Hyperimmunoglobulinemia D 65

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
hyper-igd syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



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

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
1Immunologic FactorsPhase 218483
2ImmunoglobulinsPhase 24477
3Antibodies, MonoclonalPhase 22413
4AntibodiesPhase 24477

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, Neutrophil, Pineal, Pancreatic islet

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
Genetic Investigation of Uterine Carcinosarcoma: Case Report and Cohort Analysis. (27009459)
2016
2
Drug addiction stigma in relation to methadone maintenance treatment by different service delivery models in Vietnam. (26956741)
2016
3
York platelet syndrome is a CRAC channelopathy due to gain-of- function mutations in STIM1. (25577287)
2015
4
Spinal extradural solitary fibrous tumor with retiform and papillary features. (23632234)
2013
5
miRNA-141, downregulated in pancreatic cancer, inhibits cell proliferation and invasion by directly targeting MAP4K4. (24013097)
2013
6
Estrogen upregulates cyclic AMP response element modulator I+ expression and downregulates interleukin-2 production by human T lymphocytes. (22281835)
2012
7
Misdiagnosis of Addison's disease in a patient with end-stage renal disease. (21219212)
2011
8
Clinical course and management of postoperative methicillin-resistant Staphylococcus aureus keratitis in immunocompromised patients: two case reports. (22267913)
2011
9
Partial ostectomy of the dens to correct atlantoaxial subluxation in a pony. (21395622)
2011
10
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. (20619487)
2011
11
FcR-independent effects of IgE and IgG autoantibodies in bullous pemphigoid. (21646296)
2011
12
Human TrkB gene: novel alternative transcripts, protein isoforms and expression pattern in the prefrontal cerebral cortex during postnatal development. (20193039)
2010
13
Clinical outcome of long-term survivors of progressive multifocal leukoencephalopathy. (20710013)
2010
14
Neurologic manifestations of localized scleroderma: a case report and literature review. (18981376)
2008
15
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. (18766994)
2008
16
Vitamin D deficiency in adults: to better understand a new presentation of an old disease]. (16628272)
2006
17
15-Lipoxygenase-1 induced by interleukin-4 mediates apoptosis in oral cavity cancer cells. (16472553)
2006
18
Development of prostaglandin D2 receptor antagonist: discovery of highly potent antagonists. (15358295)
2004
19
Domestic animals as reservoirs for sleeping sickness in three endemic foci in south-eastern Uganda. (12803870)
2003
20
Isolation, maintenance, and characterization of human pancreatic islet tumor cells expressing vasoactive intestinal peptide. (11138979)
2001
21
Clinical correlates of brain morphometric features of subjects with low-functioning autistic disorder. (10961787)
2000
22
Colocalization of BAX and BCL-2 in small intestine and kidney biopsies with different degrees of DNA fragmentation. (10382277)
1999
23
Protein phosphatase inhibitors exert specific and nonspecific effects on calcium influx in thapsigargin-treated human neutrophils. (9824776)
1998
24
Laparoscopic resection of splenic artery aneurysm. (9419304)
1998
25
Growth of Chlamydia pneumoniae induces cytokine production and expression of CD14 in a human monocytic cell line. (8890256)
1996
26
Stoichiometry of the atrial natriuretic factor-R1 receptor complex in the bovine zona glomerulosa. (7857923)
1995
27
Gonadotropin-releasing hormone (GnRH) agonists and estrogen/progestin replacement for the treatment of hirsutism: evaluating the results. (8530572)
1995
28
Altered urinary excretion of lysosomal hydrolases in pregnancy. (8238009)
1993
29
Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1. (1332065)
1992
30
ERCP findings in hepatic alveolar echinococcosis. (1916171)
1991
31
Insulin sensitivity is increased in Friend erythroleukemia cells enriched in polyunsaturated fatty acid. (1843205)
1991
32
Adenosquamous carcinoma of the cervix: prognosis in stage IB. (2342726)
1990
33
Melanotic neuroectodermal tumor of infancy: its histological similarities to fetal pineal gland. (851944)
1977
34
Portable oxygen and exercise tolerance in patients with chronic hypoxic cor pulmonale. (871805)
1977
35
Chronic pyelonephritis and urinary tract. (13615925)
1958

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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GO Terms for genes affiliated with Hyper-Igd Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of inflammatory responseGO:00507289.3SAA1, TNFRSF1A

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