HIDS
MCID: HYP088
MIFTS: 43

Hyper-Igd Syndrome (HIDS) malady

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

Aliases & Classifications for Hyper-Igd Syndrome

Aliases & Descriptions for Hyper-Igd Syndrome:

Name: Hyper-Igd Syndrome 54 50 56 13 52
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 50 24 66
Hyper Igd Syndrome 50 24
Hids 56 66
Hyperimmunoglobulinemia D with Periodic Fever 56
Hyperimmunoglobinemia D with Recurrent Fever 56
Partial Mevalonate Kinase Deficiency 56
Hyperimmunoglobulinemia D Syndrome 56
Deficiency of Mevalonate Kinase 69
Periodic Fever, Dutch Type 24
Periodic Fever Dutch Type 50
Hyperimmunoglobulinemia D 69

Characteristics:

Orphanet epidemiological data:

56
hyperimmunoglobulinemia d with periodic fever
Inheritance: Autosomal recessive; Age of onset: Infancy;

HPO:

32
hyper-igd syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 260920
Orphanet 56 ORPHA343
ICD10 via Orphanet 34 E85.0
MedGen 40 C0398691

Summaries for Hyper-Igd Syndrome

NIH Rare Diseases : 50 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 ataxia, arthralgia and myalgia. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase), and among its related pathways/superpathways is Interleukin-10 signaling. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and bone.

UniProtKB/Swiss-Prot : 66 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: 260920

Related Diseases for Hyper-Igd Syndrome

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 hystrix-like ichthyosis with deafness 11.6
2 mevalonic aciduria 11.4
3 kid syndrome 11.3
4 amyloidosis 10.2
5 retinal cancer 10.2 CRP MVK
6 porokeratosis 3, disseminated superficial actinic 10.1 IL1RN MVK
7 cutaneous sclerosis 10.1 CRP IL1RN
8 shoulder impingement syndrome 10.1 CRP IL1RN
9 fallopian tube adenomatoid tumor 10.1 CRP IL1RN
10 diverticulitis of colon 10.1 CRP SAA1
11 cerebral palsy 10.1 CRP IL1RN
12 candidiasis, familial, 4, autosomal recessive 10.1 MVK TNFRSF1A
13 anaplastic ganglioglioma 10.1 CRP SAA1
14 generalized dystonia 10.1 CRP IL1RN
15 benign neonatal seizures 10.1 CRP IL1RN
16 central nervous system leiomyoma 10.1 CRP MVK
17 multinodular goiter 10.1 CRP IL1RN
18 cerebrum cancer 10.1 CRP TNFRSF1A
19 myiasis 10.1 CRP IL1RN
20 stiff-person syndrome 10.1 CRP IL1RN
21 cinca syndrome 10.1 CRP TNFRSF1A
22 wilkes stevenson syndrome 10.1 CRP TNFRSF1A
23 patau syndrome 10.1 CRP TNFRSF1A
24 kidney leiomyosarcoma 10.1 IL1RN TNFRSF1A
25 pancreas lymphoma 10.1 CRP TNFRSF1A
26 urinary bladder posterior wall cancer 10.1 CRP TNFRSF1A
27 endobronchial leiomyoma 10.0 CRP IL1RN
28 synovium cancer 10.0 CRP IL1RN
29 bare lymphocyte syndrome, type i 10.0 CRP IL1RN
30 bone angioendothelial sarcoma 10.0 CRP IL1RN
31 van maldergem syndrome 2 10.0 SAA1 TNFRSF1A
32 intracranial hemorrhage in brain cerebrovascular malformations 10.0 CRP IL1RN
33 mechanical lagophthalmos 9.9 CRP MVK TNFRSF1A
34 histiocytosis 9.9 CRP IL1RN
35 molybdenum cofactor deficiency a 9.9 CRP TNFRSF1A
36 mental retardation, autosomal dominant 22 9.9 IL1RN MVK TNFRSF1A
37 bazex syndrome 9.9 CRP IL1RN TNFRSF1A
38 primrose syndrome 9.9 CRP IL1RN TNFRSF1A
39 celiac disease 9.9 CRP IL1RN TNFRSF1A
40 crescentic glomerulonephritis 9.9
41 pericarditis 9.9
42 glomerulonephritis 9.9
43 keratopathy 9.9
44 goodpasture syndrome 9.9 CRP IL1RN TNFRSF1A
45 hard palate cancer 9.8 SAA1 TNFRSF1A
46 pyloric stenosis, infantile hypertrophic, 2 9.7 CRP MVK SAA1 TNFRSF1A
47 rheumatoid arthritis 9.7 CRP IL1RN SAA1 TNFRSF1A
48 immunodeficiency 9 9.2 CRP IL1RN MVK PTX3 SAA1 TNFRSF1A

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



Diseases related to Hyper-Igd Syndrome

Symptoms & Phenotypes for Hyper-Igd Syndrome

Symptoms by clinical synopsis from OMIM:

260920

Clinical features from OMIM:

260920

Human phenotypes related to Hyper-Igd Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 arthralgia 56 32 Very frequent (99-80%) HP:0002829
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 seizures 56 32 Occasional (29-5%) HP:0001250
5 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
6 diarrhea 56 32 Frequent (79-30%) HP:0002014
7 global developmental delay 56 32 Occasional (29-5%) HP:0001263
8 arthritis 56 32 Frequent (79-30%) HP:0001369
9 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
10 acrocyanosis 56 32 Occasional (29-5%) HP:0001063
11 limitation of joint mobility 56 32 Occasional (29-5%) HP:0001376
12 growth delay 56 32 Occasional (29-5%) HP:0001510
13 migraine 56 32 Frequent (79-30%) HP:0002076
14 intestinal obstruction 56 32 Occasional (29-5%) HP:0005214
15 purpura 56 32 Occasional (29-5%) HP:0000979
16 gastrointestinal hemorrhage 56 32 Very frequent (99-80%) HP:0002239
17 erythema 56 32 Occasional (29-5%) HP:0010783
18 urticaria 56 32 Frequent (79-30%) HP:0001025
19 vasculitis 56 32 Frequent (79-30%) HP:0002633
20 papule 56 32 Frequent (79-30%) HP:0200034
21 lymphadenopathy 56 32 Very frequent (99-80%) HP:0002716
22 peritonitis 56 32 Occasional (29-5%) HP:0002586
23 recurrent aphthous stomatitis 56 32 Frequent (79-30%) HP:0011107
24 elevated erythrocyte sedimentation rate 56 32 Very frequent (99-80%) HP:0003565
25 increased iga level 56 32 Very frequent (99-80%) HP:0003261
26 episodic fever 56 32 Very frequent (99-80%) HP:0001954
27 headache 32 HP:0002315
28 vertigo 32 HP:0002321
29 vomiting 32 HP:0002013
30 splenomegaly 32 HP:0001744
31 leukocytosis 32 HP:0001974
32 skin rash 32 HP:0000988
33 hypermelanotic macule 32 HP:0001034
34 rod-cone dystrophy 32 HP:0000510
35 optic disc pallor 32 HP:0000543
36 nyctalopia 32 HP:0000662

UMLS symptoms related to Hyper-Igd Syndrome:


abdominal pain, arthralgia, diarrhea, headache, vomiting

Drugs & Therapeutics for Hyper-Igd Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies, Monoclonal Phase 2
3 Antibodies Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2
2 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Unknown status NCT01568736
3 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
4 Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics Recruiting NCT00001373

Search NIH Clinical Center for Hyper-Igd Syndrome

Genetic Tests for Hyper-Igd Syndrome

Genetic tests related to Hyper-Igd Syndrome:

id Genetic test Affiliating Genes
1 Hyper Igd Syndrome 24 MVK

Anatomical Context for Hyper-Igd Syndrome

MalaCards organs/tissues related to Hyper-Igd Syndrome:

39
Skin, Lymph Node, Bone, Monocytes

Publications for Hyper-Igd Syndrome

Articles related to Hyper-Igd Syndrome:

(show all 38)
id Title Authors Year
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
Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. ( 26516243 )
2015
7
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? ( 25990874 )
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
Renal amyloidosis due to hyper-IgD syndrome. ( 23169386 )
2012
11
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). ( 21607759 )
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
Hyper-IgD syndrome with novel mutation in a Japanese girl. ( 18941711 )
2009
16
Recurrent pericarditis in hyper-IgD syndrome. ( 19772809 )
2009
17
A patient with hyper-IgD syndrome responding to simvastatin treatment. ( 19046710 )
2008
18
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. ( 17804452 )
2007
19
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]. ( 17473510 )
2007
20
A patient with hyper-IgD syndrome responding to anti-TNF treatment. ( 17171314 )
2007
21
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. ( 18008182 )
2007
22
Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? ( 16931207 )
2006
23
Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints. ( 16635911 )
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
A patient with hyper-IgD syndrome in Antalya, Turkey. ( 15045637 )
2004
27
Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. ( 15638064 )
2004
28
Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. ( 15324368 )
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
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. ( 11534513 )
2001
31
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? ( 11486910 )
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
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
Hyper-IgD syndrome and pregnancy. ( 8886712 )
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

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

66 (show all 21)
id Symbol AA change Variation ID SNP ID
1 MVK p.His20Pro VAR_004022 rs104895295
2 MVK p.Pro167Leu VAR_004023 rs104895300
3 MVK p.Ile268Thr VAR_004024 rs104895304
4 MVK p.Val377Ile VAR_004027 rs28934897
5 MVK p.Val310Met VAR_009068 rs104895319
6 MVK p.His20Asn VAR_010956 rs11544299
7 MVK p.Leu39Pro VAR_010957 rs104895296
8 MVK p.Ser135Leu VAR_010959 rs104895297
9 MVK p.Ala148Thr VAR_010960 rs104895298
10 MVK p.Ser150Leu VAR_010961 rs747116992
11 MVK p.Gly202Arg VAR_010962 rs104895301
12 MVK p.Arg215Gln VAR_010963 rs104895303
13 MVK p.Gly309Ser VAR_010967 rs104895305
14 MVK p.Gly326Arg VAR_010968 rs104895308
15 MVK p.His20Gln VAR_029519 rs104895335
16 MVK p.Val132Ile VAR_029520 rs104895336
17 MVK p.Gly171Arg VAR_029521 rs104895337
18 MVK p.Gly211Glu VAR_029522 rs104895325
19 MVK p.Val250Ile VAR_029523 rs104895339
20 MVK p.Leu265Arg VAR_029524 rs104895316
21 MVK p.Gly376Val VAR_029527 rs104895340

ClinVar genetic disease variations for Hyper-Igd Syndrome:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh37 Chromosome 12, 110034320: 110034320
2 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh37 Chromosome 12, 110032947: 110032947
3 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh37 Chromosome 12, 110012686: 110012686
4 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh37 Chromosome 12, 110029080: 110029080
5 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh37 Chromosome 12, 110019322: 110019322
6 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh37 Chromosome 12, 110032875: 110032875
7 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh37 Chromosome 12, 110012643: 110012661
8 MVK NM_000431.3(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104895300 GRCh37 Chromosome 12, 110019328: 110019328
9 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
10 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
11 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh37 Chromosome 12, 110012699: 110012699
12 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh37 Chromosome 12, 110019249: 110019249
13 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh37 Chromosome 12, 110034353: 110034353
14 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
15 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh37 Chromosome 12, 110019270: 110019270
16 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh37 Chromosome 12, 110023863: 110023863
17 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh37 Chromosome 12, 110023907: 110023907
18 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh37 Chromosome 12, 110028607: 110028607

Expression for Hyper-Igd Syndrome

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

Pathways for Hyper-Igd Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.31 IL1RN TNFRSF1A

GO Terms for Hyper-Igd Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 CRP IL1RN PTX3 SAA1 TNFRSF1A
2 extracellular space GO:0005615 9.02 CRP IL1RN PTX3 SAA1 TNFRSF1A

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

id Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 9.26 CRP SAA1
2 inflammatory response GO:0006954 9.26 CRP IL1RN PTX3 TNFRSF1A
3 opsonization GO:0008228 9.16 CRP PTX3
4 negative regulation of inflammatory response GO:0050728 8.8 MVK SAA1 TNFRSF1A

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

id Name GO ID Score Top Affiliating Genes
1 virion binding GO:0046790 8.96 CRP PTX3
2 complement component C1q binding GO:0001849 8.62 CRP PTX3

Sources for Hyper-Igd Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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