HIDS
MCID: HYP088
MIFTS: 49

Hyper-Igd Syndrome (HIDS)

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

Aliases & Classifications for Hyper-Igd Syndrome

MalaCards integrated aliases for Hyper-Igd Syndrome:

Name: Hyper-Igd Syndrome 58 77 54 60 13 56 41
Hids 58 54 60 76
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 58 54 76
Hyperimmunoglobulinemia D with Periodic Fever 60
Hyperimmunoglobinemia D with Recurrent Fever 60
Partial Mevalonate Kinase Deficiency 60
Hyperimmunoglobulinemia D Syndrome 60
Deficiency of Mevalonate Kinase 74
Periodic Fever, Dutch Type 58
Periodic Fever Dutch Type 54
Hyperimmunoglobulinemia D 74
Hyper Igd Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
hyperimmunoglobulinemia d with periodic fever
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
febrile attacks disappear in adulthood in some patients
onset of symptoms less than one year
allelic to mevalonic aciduria
length of attack, 3 to 7 days
frequency of attack, monthly - bimonthly


HPO:

33
hyper-igd syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyper-Igd Syndrome

NIH Rare Diseases : 54 Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. It is considered an auto-inflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from person to person. These attacks can occur spontaneously or be triggered by vaccinations, infections, and/or emotional or physical stress. Growth and development is usually not affected. Hyper IgD syndrome is caused by mutations in the MVK gene which provides instructions for making the mevalonate kinase enzyme. The mutations result in the partial deficiency of the enzyme. A more severe form of maevalonate kinase deficiency is known as mevalonic aciduria. It is inherited in an autosomal recessive manner. Treatment is with anakinra, and other medications, but not all patients show a complete response. In most cases, the frequency of the disease's episodes decreases over time. 

MalaCards based summary : Hyper-Igd Syndrome, also known as hids, is related to mevalonic aciduria and amyloidosis aa, and has symptoms including vomiting, arthralgia and abdominal pain. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Innate Immune System and Interleukin-10 signaling. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and bone, and related phenotypes are hepatomegaly and arthralgia

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hyperimmunoglobulinemia D with recurrent fever is a periodic fever syndrome originally described in... more...

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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 mevalonic aciduria 32.8 IL1RN MVK
2 amyloidosis aa 30.5 CRP SAA1
3 amyloidosis 30.4 SAA1 TNFRSF1A
4 cryopyrin-associated periodic syndrome 30.2 CRP IL1RN
5 periodic fever, familial, autosomal dominant 30.0 MVK TNFRSF1A
6 pericarditis 29.6 CRP IL1RN TNFRSF1A
7 familial mediterranean fever 29.2 CRP IL1RN MVK SAA1 TNFRSF1A
8 ichthyosis, hystrix-like, with deafness 12.1
9 kid syndrome 11.7
10 henoch-schoenlein purpura 10.1
11 purpura 10.1
12 bronchus cancer 10.1 CRP SAA1
13 acute cholangitis 10.1 CRP IL1RN
14 schnitzler syndrome 10.1 CRP IL1RN
15 macrophage activation syndrome 10.1
16 cartilage disease 10.1 CRP IL1RN
17 cinca syndrome 10.1 IL1RN MVK
18 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1
19 glomerulonephritis 10.1
20 keratopathy 10.1
21 crescentic glomerulonephritis 10.1
22 pericardium disease 10.1 CRP IL1RN
23 orbital cellulitis 10.1 CRP IL1RN
24 nutritional deficiency disease 10.1 CRP MVK
25 acute orbital inflammation 10.1 CRP IL1RN
26 exanthem 10.0 CRP IL1RN
27 temporal arteritis 10.0 CRP IL1RN
28 chorioamnionitis 10.0 CRP IL1RN
29 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.0
30 obsessive-compulsive disorder 10.0
31 human immunodeficiency virus type 1 10.0
32 potter's syndrome 10.0
33 hypoglycemia 10.0
34 isolated optic neuritis 10.0
35 bone inflammation disease 10.0 CRP IL1RN
36 spondylitis 10.0 CRP IL1RN
37 juvenile rheumatoid arthritis 9.9 CRP IL1RN
38 pericoronitis 9.9 CRP TNFRSF1A
39 paratyphoid fever 9.9 CRP TNFRSF1A
40 synovitis 9.9 CRP IL1RN
41 muckle-wells syndrome 9.9 CRP TNFRSF1A
42 wells syndrome 9.9 CRP TNFRSF1A
43 proteasome-associated autoinflammatory syndrome 1 9.9 CRP IL1RN
44 cardiac tamponade 9.9 IL1RN TNFRSF1A
45 palindromic rheumatism 9.9 CRP TNFRSF1A
46 pericardial effusion 9.9 CRP TNFRSF1A
47 periodontal disease 9.8 CRP IL1RN
48 brucellosis 9.8 CRP IL1RN SAA1
49 amyloidosis, familial visceral 9.8 SAA1 TNFRSF1A
50 relapsing fever 9.7 CRP MVK 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

Human phenotypes related to Hyper-Igd Syndrome:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
2 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
3 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
4 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
5 gastrointestinal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0002239
6 lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002716
7 elevated erythrocyte sedimentation rate 60 33 hallmark (90%) Very frequent (99-80%) HP:0003565
8 recurrent fever 33 hallmark (90%) HP:0001954
9 increased circulating iga level 33 hallmark (90%) HP:0003261
10 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
11 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
12 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
13 urticaria 60 33 frequent (33%) Frequent (79-30%) HP:0001025
14 vasculitis 60 33 frequent (33%) Frequent (79-30%) HP:0002633
15 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
16 recurrent aphthous stomatitis 60 33 frequent (33%) Frequent (79-30%) HP:0011107
17 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
18 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
19 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
20 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
21 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
22 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
23 intestinal obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005214
24 purpura 60 33 occasional (7.5%) Occasional (29-5%) HP:0000979
25 erythema 60 33 occasional (7.5%) Occasional (29-5%) HP:0010783
26 peritonitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002586
27 rod-cone dystrophy 33 occasional (7.5%) HP:0000510
28 splenomegaly 33 HP:0001744
29 vomiting 33 HP:0002013
30 nyctalopia 33 HP:0000662
31 vertigo 33 HP:0002321
32 headache 33 HP:0002315
33 leukocytosis 33 HP:0001974
34 skin rash 33 HP:0000988
35 episodic fever 60 Very frequent (99-80%)
36 hypermelanotic macule 33 HP:0001034
37 optic disc pallor 33 HP:0000543
38 increased iga level 60 Very frequent (99-80%)
39 neutrophilia 33 HP:0011897

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
arthritis
arthralgias

Neurologic Central Nervous System:
headache

Hematology:
neutrophilia
leukocytosis (mean leukocyte count 18.7 x 10(9)/l)

Skin Nails Hair Skin:
rash (erythematous macules or papules)

Laboratory Abnormalities:
mildly elevated urinary mevalonic acid
elevated erythrocyte sedimentation rate (mean 90mm/h)

Abdomen Gastrointestinal:
vomiting
abdominal pain
diarrhea

Head And Neck Eyes:
optic disc pallor
night blindness
attenuated retinal vessels
retinitis pigmentosa (in some patients)
visual field loss
more
Abdomen Spleen:
splenomegaly (in childhood)

Immunology:
elevated polyclonal igd (equal to or greater than 100 iu/ml)
elevated iga (equal to or greater than 2.6g/l)
lymphadenopathy (cervical, inguinal, axillary)

Clinical features from OMIM:

260920

UMLS symptoms related to Hyper-Igd Syndrome:


vomiting, arthralgia, abdominal pain, headache, diarrhea

Drugs & Therapeutics for Hyper-Igd Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3,Phase 2
2 Antibodies, Monoclonal Phase 3,Phase 2
3 Immunologic Factors Phase 3,Phase 2
4 Immunoglobulins Phase 3,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
2 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
3 Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics Recruiting NCT00001373
4 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Withdrawn NCT01568736

Search NIH Clinical Center for Hyper-Igd Syndrome

Genetic Tests for Hyper-Igd Syndrome

Anatomical Context for Hyper-Igd Syndrome

MalaCards organs/tissues related to Hyper-Igd Syndrome:

42
Skin, Lymph Node, Bone, Monocytes

Publications for Hyper-Igd Syndrome

Articles related to Hyper-Igd Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Hyper-IgD syndrome in a patient with IgA immunodeficiency. ( 30148429 )
2018
2
Targeting Root Cause by Systemic scAAV9-hIDS Gene Delivery: Functional Correction and Reversal of Severe MPS II in Mice. ( 30191159 )
2018
3
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever. ( 27079959 )
2017
4
Autoinflammation: Canakinumab effective in HIDS treatment. ( 28541296 )
2017
5
Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy. ( 26819362 )
2016
6
2-hydroxyisoquinoline-1,3(2H,4H)-diones (HIDs) as human immunodeficiency virus type 1 integrase inhibitors: Influence of the alkylcarboxamide substitution of position 4. ( 27105029 )
2016
7
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome. ( 27856657 )
2016
8
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. ( 27270401 )
2016
9
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS). ( 26977311 )
2016
10
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. ( 27899390 )
2016
11
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred. ( 25708585 )
2015
12
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? ( 25990874 )
2015
13
Treatment of adult hyper-IgD syndrome with canakinumab. ( 26116953 )
2015
14
Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. ( 26516243 )
2015
15
30 years hids-Travels between bedside and bench. ( 27226995 )
2015
16
"Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name? ( 23412692 )
2014
17
Does diabetic status in the ICU predict haemofiltration requirement? The haemofiltration in the ICU and diabetic status (HIDS) study. ( 24967758 )
2014
18
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. ( 23375471 )
2013
19
Autoinflammatory diseases in dermatology: CAPS, TRAPS, HIDS, FMF, Blau, CANDLE. ( 23827243 )
2013
20
2-Hydroxyisoquinoline-1,3(2H,4H)-diones (HIDs), novel inhibitors of HIV integrase with a high barrier to resistance. ( 23517458 )
2013
21
Renal amyloidosis due to hyper-IgD syndrome. ( 23169386 )
2012
22
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). ( 21607759 )
2012
23
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. ( 23692791 )
2012
24
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. ( 22038276 )
2012
25
Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey). ( 22246419 )
2012
26
Hyper-IgD syndrome or mevalonate kinase deficiency. ( 21760510 )
2011
27
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. ( 20346247 )
2010
28
Nummular keratopathy in a patient with Hyper-IgD Syndrome. ( 19656398 )
2009
29
Recurrent pericarditis in hyper-IgD syndrome. ( 19772809 )
2009
30
Hyper-IgD syndrome with novel mutation in a Japanese girl. ( 18941711 )
2009
31
Hydroxyiminodisuccinic acid (HIDS): A novel biodegradable chelating ligand for the increase of iron bioavailability and arsenic phytoextraction. ( 19665755 )
2009
32
A patient with hyper-IgD syndrome responding to simvastatin treatment. ( 19046710 )
2008
33
A patient with hyper-IgD syndrome responding to anti-TNF treatment. ( 17171314 )
2007
34
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. ( 17804452 )
2007
35
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. ( 18008182 )
2007
36
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]. ( 17473510 )
2007
37
Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints. ( 16635911 )
2006
38
Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? ( 16931207 )
2006
39
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. ( 16011988 )
2005
40
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. ( 16093577 )
2005
41
A patient with hyper-IgD syndrome in Antalya, Turkey. ( 15045637 )
2004
42
Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. ( 15324368 )
2004
43
Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. ( 15638064 )
2004
44
[Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS)]. ( 16197847 )
2004
45
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. ( 12915839 )
2003
46
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
47
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? ( 11486910 )
2001
48
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. ( 11534513 )
2001
49
Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome. ( 11325608 )
2001
50
Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes. ( 10969277 )
2000

Variations for Hyper-Igd Syndrome

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

76 (show all 21)
# 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 top 50) (show all 276)
# 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.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh38 Chromosome 12, 109596515: 109596515
3 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh37 Chromosome 12, 110032947: 110032947
4 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh38 Chromosome 12, 109595142: 109595142
5 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh37 Chromosome 12, 110012686: 110012686
6 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh38 Chromosome 12, 109574881: 109574881
7 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh37 Chromosome 12, 110029080: 110029080
8 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh38 Chromosome 12, 109591275: 109591275
9 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh37 Chromosome 12, 110019322: 110019322
10 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh38 Chromosome 12, 109581517: 109581517
11 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh37 Chromosome 12, 110032875: 110032875
12 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh38 Chromosome 12, 109595070: 109595070
13 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh38 Chromosome 12, 109574838: 109574856
14 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh37 Chromosome 12, 110012643: 110012661
15 MVK NM_000431.2(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Likely pathogenic rs104895300 GRCh37 Chromosome 12, 110019328: 110019328
16 MVK NM_000431.2(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Likely pathogenic rs104895300 GRCh38 Chromosome 12, 109581523: 109581523
17 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
18 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh38 Chromosome 12, 109586098: 109586098
19 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
20 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh38 Chromosome 12, 109581440: 109581440
21 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh37 Chromosome 12, 110012699: 110012699
22 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh38 Chromosome 12, 109574894: 109574894
23 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh37 Chromosome 12, 110019249: 110019249
24 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh38 Chromosome 12, 109581444: 109581444
25 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh37 Chromosome 12, 110006577: 110006577
26 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh38 Chromosome 12, 109568772: 109568772
27 MVK NM_000431.3(MVK): c.*11C> T single nucleotide variant not provided rs104895345 GRCh37 Chromosome 12, 110034393: 110034393
28 MVK NM_000431.3(MVK): c.*11C> T single nucleotide variant not provided rs104895345 GRCh38 Chromosome 12, 109596588: 109596588
29 MVK NM_000431.3(MVK): c.-14_78del92 deletion not provided rs104895309 GRCh37 Chromosome 12, 110012614: 110012705
30 MVK NM_000431.3(MVK): c.-14_78del92 deletion not provided rs104895309 GRCh38 Chromosome 12, 109574809: 109574900
31 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh37 Chromosome 12, 110032952: 110032952
32 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh38 Chromosome 12, 109595147: 109595147
33 MVK NM_000431.3(MVK): c.1006G> A (p.Gly336Ser) single nucleotide variant not provided rs104895358 GRCh37 Chromosome 12, 110032953: 110032953
34 MVK NM_000431.3(MVK): c.1006G> A (p.Gly336Ser) single nucleotide variant not provided rs104895358 GRCh38 Chromosome 12, 109595148: 109595148
35 MVK NM_000431.3(MVK): c.1039+1G> T single nucleotide variant not provided rs104895362 GRCh37 Chromosome 12, 110032987: 110032987
36 MVK NM_000431.3(MVK): c.1039+1G> T single nucleotide variant not provided rs104895362 GRCh38 Chromosome 12, 109595182: 109595182
37 MVK NM_000431.3(MVK): c.104T> C (p.Leu35Ser) single nucleotide variant not provided rs104895313 GRCh37 Chromosome 12, 110013828: 110013828
38 MVK NM_000431.3(MVK): c.104T> C (p.Leu35Ser) single nucleotide variant not provided rs104895313 GRCh38 Chromosome 12, 109576023: 109576023
39 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh37 Chromosome 12, 110034258: 110034258
40 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh38 Chromosome 12, 109596453: 109596453
41 MVK NM_000431.3(MVK): c.1095_1098delTGAC (p.Asp366Alafs) deletion not provided rs104895372 GRCh37 Chromosome 12, 110034286: 110034289
42 MVK NM_000431.3(MVK): c.1095_1098delTGAC (p.Asp366Alafs) deletion not provided rs104895372 GRCh38 Chromosome 12, 109596481: 109596484
43 MVK NM_000431.3(MVK): c.1100G> C (p.Cys367Ser) single nucleotide variant not provided rs104895359 GRCh37 Chromosome 12, 110034291: 110034291
44 MVK NM_000431.3(MVK): c.1100G> C (p.Cys367Ser) single nucleotide variant not provided rs104895359 GRCh38 Chromosome 12, 109596486: 109596486
45 MVK NM_000431.3(MVK): c.1127G> T (p.Gly376Val) single nucleotide variant not provided rs104895340 GRCh37 Chromosome 12, 110034318: 110034318
46 MVK NM_000431.3(MVK): c.1127G> T (p.Gly376Val) single nucleotide variant not provided rs104895340 GRCh38 Chromosome 12, 109596513: 109596513
47 MVK NM_000431.3(MVK): c.1132T> C (p.Ser378Pro) single nucleotide variant not provided rs104895349 GRCh37 Chromosome 12, 110034323: 110034323
48 MVK NM_000431.3(MVK): c.1132T> C (p.Ser378Pro) single nucleotide variant not provided rs104895349 GRCh38 Chromosome 12, 109596518: 109596518
49 MVK NM_000431.3(MVK): c.1139A> G (p.His380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895324 GRCh37 Chromosome 12, 110034330: 110034330
50 MVK NM_000431.3(MVK): c.632-71A> G single nucleotide variant not provided rs104895346 GRCh37 Chromosome 12, 110024488: 110024488

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 CRP IL1RN PTX3 SAA1 TNFRSF1A
2 10.31 IL1RN TNFRSF1A

GO Terms for Hyper-Igd Syndrome

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.54 CRP PTX3 SAA1
2 cytokine-mediated signaling pathway GO:0019221 9.43 IL1RN SAA1 TNFRSF1A
3 neutrophil chemotaxis GO:0030593 9.4 IL1RN SAA1
4 acute-phase response GO:0006953 9.32 CRP SAA1
5 opsonization GO:0008228 9.16 CRP PTX3
6 negative regulation of inflammatory response GO:0050728 9.13 MVK SAA1 TNFRSF1A
7 inflammatory response GO:0006954 8.92 CRP IL1RN PTX3 TNFRSF1A

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

# 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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