MCID: HYP088
MIFTS: 49

Hyper-Igd Syndrome

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

Aliases & Classifications for Hyper-Igd Syndrome

MalaCards integrated aliases for Hyper-Igd Syndrome:

Name: Hyper-Igd Syndrome 57 76 53 59 13 55 40
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 57 53 75
Hids 57 59 75
Hyperimmunoglobulinemia D with Periodic Fever 59
Hyperimmunoglobinemia D with Recurrent Fever 59
Partial Mevalonate Kinase Deficiency 59
Hyperimmunoglobulinemia D Syndrome 59
Deficiency of Mevalonate Kinase 73
Periodic Fever, Dutch Type 57
Periodic Fever Dutch Type 53
Hyperimmunoglobulinemia D 73
Hyper Igd Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
hyperimmunoglobulinemia d with periodic fever
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM:

57
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:

32
hyper-igd syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyper-Igd Syndrome

NIH Rare Diseases : 53 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 hyperimmunoglobulinemia d and periodic fever syndrome, is related to mevalonic aciduria and amyloidosis aa, and has symptoms including abdominal pain, arthralgia and diarrhea. 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 seizures and ataxia

UniProtKB/Swiss-Prot : 75 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 : 76 Hyperimmunoglobulinemia D with recurrent fever (HIDS) is a periodic fever syndrome originally described... 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 all 37)
# Related Disease Score Top Affiliating Genes
1 mevalonic aciduria 32.7 IL1RN MVK
2 amyloidosis aa 30.3 CRP SAA1
3 periodic fever, familial, autosomal dominant 29.8 MVK TNFRSF1A
4 brucellosis 29.6 CRP IL1RN SAA1
5 pericarditis 29.6 CRP TNFRSF1A
6 amyloidosis 29.1 SAA1 TNFRSF1A
7 familial mediterranean fever 27.4 CRP IL1RN MVK SAA1 TNFRSF1A
8 ichthyosis, hystrix-like, with deafness 11.7
9 kid syndrome 11.4
10 cryopyrin-associated periodic syndrome 10.2 CRP IL1RN
11 cinca syndrome 10.2 IL1RN MVK
12 acute cholangitis 10.2 CRP IL1RN
13 cartilage disease 10.2 CRP IL1RN
14 adult-onset still's disease 10.1 CRP IL1RN
15 exanthem 10.1 CRP IL1RN
16 bronchus cancer 10.1 CRP SAA1
17 temporal arteritis 10.1 CRP IL1RN
18 autoinflammation, lipodystrophy, and dermatosis syndrome 10.0 CRP IL1RN
19 bone inflammation disease 10.0 CRP IL1RN
20 spondylitis 10.0 CRP IL1RN
21 glomerulonephritis 10.0
22 keratopathy 10.0
23 crescentic glomerulonephritis 10.0
24 juvenile rheumatoid arthritis 10.0 CRP IL1RN
25 synovitis 9.9 CRP IL1RN
26 pericoronitis 9.9 CRP TNFRSF1A
27 periodontal disease 9.9 CRP IL1RN
28 muckle-wells syndrome 9.8 CRP TNFRSF1A
29 wells syndrome 9.8 CRP TNFRSF1A
30 palindromic rheumatism 9.8 CRP TNFRSF1A
31 pericardial effusion 9.8 CRP TNFRSF1A
32 amyloidosis, familial visceral 9.5 SAA1 TNFRSF1A
33 relapsing fever 9.4 CRP MVK TNFRSF1A
34 behcet syndrome 9.3 CRP IL1RN TNFRSF1A
35 psoriatic arthritis 9.1 CRP TNFRSF1A
36 inflammatory bowel disease 8.8 CRP IL1RN TNFRSF1A
37 rheumatoid arthritis 8.5 CRP IL1RN 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 via clinical synopsis from OMIM:

57
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
AbdomenSpleen:
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

Human phenotypes related to Hyper-Igd Syndrome:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
7 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
8 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
9 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
10 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
11 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
12 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
13 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
14 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
15 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
16 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
17 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
18 urticaria 59 32 frequent (33%) Frequent (79-30%) HP:0001025
19 vasculitis 59 32 frequent (33%) Frequent (79-30%) HP:0002633
20 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
21 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
22 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
23 recurrent aphthous stomatitis 59 32 frequent (33%) Frequent (79-30%) HP:0011107
24 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
25 increased iga level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003261
26 episodic fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001954
27 splenomegaly 32 HP:0001744
28 vomiting 32 HP:0002013
29 nyctalopia 32 HP:0000662
30 vertigo 32 HP:0002321
31 leukocytosis 32 HP:0001974
32 skin rash 32 HP:0000988
33 headache 32 HP:0002315
34 hypermelanotic macule 32 HP:0001034
35 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
36 optic disc pallor 32 HP:0000543
37 neutrophilia 32 HP:0011897

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3,Phase 2
2 Antibodies, Monoclonal Phase 3,Phase 2
3 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 Active, not recruiting 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:

41
Skin, Lymph Node, Bone, Monocytes

Publications for Hyper-Igd Syndrome

Articles related to Hyper-Igd Syndrome:

(show all 39)
# Title Authors Year
1
Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy. ( 26819362 )
2016
2
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome. ( 27856657 )
2016
3
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever. ( 27079959 )
2016
4
Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. ( 26516243 )
2015
5
Treatment of adult hyper-IgD syndrome with canakinumab. ( 26116953 )
2015
6
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? ( 25990874 )
2015
7
Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred. ( 25708585 )
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
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
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. ( 23692791 )
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
Hyper-IgD syndrome with novel mutation in a Japanese girl. ( 18941711 )
2009
15
Nummular keratopathy in a patient with Hyper-IgD Syndrome. ( 19656398 )
2009
16
Recurrent pericarditis in hyper-IgD syndrome. ( 19772809 )
2009
17
A patient with hyper-IgD syndrome responding to simvastatin treatment. ( 19046710 )
2008
18
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]. ( 17473510 )
2007
19
A patient with hyper-IgD syndrome responding to anti-TNF treatment. ( 17171314 )
2007
20
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. ( 17804452 )
2007
21
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. ( 18008182 )
2007
22
Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints. ( 16635911 )
2006
23
Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? ( 16931207 )
2006
24
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. ( 16011988 )
2005
25
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. ( 16093577 )
2005
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
[Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS)]. ( 16197847 )
2004
29
Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. ( 15638064 )
2004
30
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
31
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? ( 11486910 )
2001
32
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. ( 11534513 )
2001
33
Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes. ( 10969277 )
2000
34
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]. ( 10800545 )
2000
35
Crescentic glomerulonephritis in hyper IgD syndrome. ( 10229000 )
1999
36
Hyper-IgD syndrome and pregnancy. ( 8886712 )
1996
37
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
38
Clinical and immunological follow-up in children with hyper-IgD syndrome. ( 8167736 )
1993
39
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:

75 (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 104)
# 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_000431.3(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Likely pathogenic rs104895300 GRCh37 Chromosome 12, 110019328: 110019328
16 MVK NM_000431.3(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 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh37 Chromosome 12, 110034353: 110034353
26 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh38 Chromosome 12, 109596548: 109596548
27 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
28 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh38 Chromosome 12, 109579921: 109579921
29 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh37 Chromosome 12, 110019270: 110019270
30 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh38 Chromosome 12, 109581465: 109581465
31 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh37 Chromosome 12, 110023863: 110023863
32 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh38 Chromosome 12, 109586058: 109586058
33 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh37 Chromosome 12, 110023907: 110023907
34 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh38 Chromosome 12, 109586102: 109586102
35 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh37 Chromosome 12, 110028607: 110028607
36 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh38 Chromosome 12, 109590802: 109590802
37 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh37 Chromosome 12, 110032871: 110032871
38 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh38 Chromosome 12, 109595066: 109595066
39 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh37 Chromosome 12, 110013954: 110013954
40 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh38 Chromosome 12, 109576149: 109576149
41 MMAB; MVK NM_052845.3(MMAB): c.57C> A (p.Arg19=) single nucleotide variant Benign rs10774774 GRCh37 Chromosome 12, 110011229: 110011229
42 MMAB; MVK NM_052845.3(MMAB): c.57C> A (p.Arg19=) single nucleotide variant Benign rs10774774 GRCh38 Chromosome 12, 109573424: 109573424
43 MMAB; MVK NM_052845.3(MMAB): c.56G> A (p.Arg19His) single nucleotide variant Benign rs10774775 GRCh37 Chromosome 12, 110011230: 110011230
44 MMAB; MVK NM_052845.3(MMAB): c.56G> A (p.Arg19His) single nucleotide variant Benign rs10774775 GRCh38 Chromosome 12, 109573425: 109573425
45 MVK NM_000431.3(MVK): c.371+8C> T single nucleotide variant Benign/Likely benign rs67886029 GRCh38 Chromosome 12, 109579954: 109579954
46 MVK NM_000431.3(MVK): c.371+8C> T single nucleotide variant Benign/Likely benign rs67886029 GRCh37 Chromosome 12, 110017759: 110017759
47 MVK NM_000431.3(MVK): c.78+8G> A single nucleotide variant Uncertain significance rs766391278 GRCh38 Chromosome 12, 109574908: 109574908
48 MVK NM_000431.3(MVK): c.78+8G> A single nucleotide variant Uncertain significance rs766391278 GRCh37 Chromosome 12, 110012713: 110012713
49 MVK NM_000431.3(MVK): c.*431C> T single nucleotide variant Uncertain significance rs72648044 GRCh38 Chromosome 12, 109597008: 109597008
50 MVK NM_000431.3(MVK): c.*431C> T single nucleotide variant Uncertain significance rs72648044 GRCh37 Chromosome 12, 110034813: 110034813

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 9.58 CRP PTX3 SAA1
2 cytokine-mediated signaling pathway GO:0019221 9.54 IL1RN SAA1 TNFRSF1A
3 negative regulation of inflammatory response GO:0050728 9.33 MVK SAA1 TNFRSF1A
4 acute-phase response GO:0006953 9.32 CRP SAA1
5 opsonization GO:0008228 9.26 CRP PTX3
6 inflammatory response GO:0006954 9.26 CRP IL1RN PTX3 TNFRSF1A
7 negative regulation by host of viral process GO:0044793 8.62 CRP PTX3

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.46 CRP MVK PTX3 TNFRSF1A
2 complement component C1q binding GO:0001849 8.96 CRP PTX3
3 virion binding GO:0046790 8.62 CRP PTX3

Sources for Hyper-Igd Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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