HIDS
MCID: HYP088
MIFTS: 51

Hyper-Igd Syndrome (HIDS)

Categories: Blood diseases, Bone diseases, Fetal 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 57 73 20 58 13 54 39
Hyperimmunoglobulinemia D and Periodic Fever Syndrome 57 20 72 6
Hids 57 20 58 72
Hyperimmunoglobulinemia D with Periodic Fever 58
Hyperimmunoglobinemia D with Recurrent Fever 58
Partial Mevalonate Kinase Deficiency 58
Hyperimmunoglobulinemia D Syndrome 58
Deficiency of Mevalonate Kinase 70
Periodic Fever, Dutch Type 57
Periodic Fever Dutch Type 20
Hyperimmunoglobulinemia D 70
Hyper Igd Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
hyperimmunoglobulinemia d with periodic fever
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
hyper-igd syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Hyper-Igd Syndrome

GARD : 20 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 brucellosis, and has symptoms including vomiting, abdominal pain and arthralgia. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase), and among its related pathways/superpathways is Interleukin-10 signaling. The drugs Colchicine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and skin, and related phenotypes are hepatomegaly and abdominal pain

UniProtKB/Swiss-Prot : 72 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 : 73 Mevalonate kinase deficiency (MKD), is an autosomal recessive metabolic disorder that disrupts the... more...

More information 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 109)
# Related Disease Score Top Affiliating Genes
1 mevalonic aciduria 31.5 TNFRSF1A MVK IL1RN
2 brucellosis 30.4 SAA1 IL1RN CRP
3 exanthem 30.3 MVK CRP
4 amyloidosis aa 30.1 SAA1 CRP
5 macrophage activation syndrome 30.1 TNFRSF1A CRP
6 cryopyrin-associated periodic syndrome 30.1 IL1RN CRP
7 pharyngitis 30.0 MVK CRP
8 amyloidosis 30.0 TNFRSF1A SAA1 CRP
9 aseptic meningitis 29.9 IL1RN CRP
10 toxic shock syndrome 29.8 IL1RN CRP
11 wells syndrome 29.8 TNFRSF1A CRP
12 familial cold autoinflammatory syndrome 29.8 SAA1 MVK IL1RN
13 juvenile rheumatoid arthritis 29.7 TNFRSF1A IL1RN CRP
14 pericarditis 29.7 TNFRSF1A CRP
15 familial mediterranean fever 29.7 TNFRSF1A SAA1 MVK IL1RN CRP
16 bacterial infectious disease 29.5 PTX3 IL1RN CRP
17 relapsing fever 29.5 TNFRSF1A MVK CRP
18 periodic fever, familial, autosomal dominant 29.5 TNFRSF1A MVK IL1RN
19 adult-onset still's disease 29.4 TNFRSF1A IL1RN CRP
20 cinca syndrome 29.3 TNFRSF1A MVK IL1RN
21 muckle-wells syndrome 29.1 TNFRSF1A MVK IL1RN CRP
22 diarrhea 10.3
23 hereditary periodic fever syndrome 10.3
24 autosomal recessive disease 10.2
25 splenomegaly 10.2
26 henoch-schoenlein purpura 10.2
27 purpura 10.2
28 cytokine deficiency 10.2
29 pancytopenia 10.2
30 porokeratosis 3, multiple types 10.1
31 crescentic glomerulonephritis 10.1
32 glomerulonephritis 10.1
33 autoinflammatory syndrome 10.1
34 cellulitis 10.1
35 vasculitis 10.1
36 erysipelas 10.1 MVK CRP
37 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.1 MVK IL1RN
38 hepatic tuberculosis 10.1 SAA1 CRP
39 baastrup's syndrome 10.1 IL1RN CRP
40 acute cholangitis 10.0 IL1RN CRP
41 pustulosis of palm and sole 10.0 IL1RN CRP
42 chronic meningitis 10.0 IL1RN CRP
43 periostitis 10.0 IL1RN CRP
44 neutrophilic dermatosis, acute febrile 10.0 IL1RN CRP
45 chronic recurrent multifocal osteomyelitis 10.0 IL1RN CRP
46 osteomyelitis 10.0 IL1RN CRP
47 necrotizing fasciitis 10.0 IL1RN CRP
48 spondylitis 10.0 SAA1 CRP
49 nutritional deficiency disease 10.0 MVK CRP
50 pleurisy 10.0 IL1RN CRP

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 abdominal pain 58 31 very rare (1%) Very frequent (99-80%) HP:0002027
3 arthralgia 58 31 very rare (1%) Very frequent (99-80%) HP:0002829
4 myalgia 58 31 very rare (1%) Very frequent (99-80%) HP:0003326
5 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
6 lymphadenopathy 58 31 very rare (1%) Very frequent (99-80%) HP:0002716
7 elevated erythrocyte sedimentation rate 58 31 very rare (1%) Very frequent (99-80%) HP:0003565
8 recurrent fever 58 31 very rare (1%) Very frequent (99-80%) HP:0001954
9 increased circulating iga level 58 31 very rare (1%) Very frequent (99-80%) HP:0003261
10 arthritis 58 31 very rare (1%) Frequent (79-30%) HP:0001369
11 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
12 urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0001025
13 vasculitis 58 31 frequent (33%) Frequent (79-30%) HP:0002633
14 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
15 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
16 recurrent aphthous stomatitis 58 31 frequent (33%) Frequent (79-30%) HP:0011107
17 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
20 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
21 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
22 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
23 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
24 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
25 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
26 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
27 seizure 31 occasional (7.5%) HP:0001250
28 splenomegaly 31 very rare (1%) HP:0001744
29 vomiting 31 very rare (1%) HP:0002013
30 skin rash 31 very rare (1%) HP:0000988
31 chronic diarrhea 31 very rare (1%) HP:0002028
32 headache 31 very rare (1%) HP:0002315
33 hepatosplenomegaly 31 very rare (1%) HP:0001433
34 oral ulcer 31 very rare (1%) HP:0000155
35 renal angiomyolipoma 31 very rare (1%) HP:0006772
36 chills 31 very rare (1%) HP:0025143
37 serositis 31 very rare (1%) HP:0045073
38 lymphadenitis 31 very rare (1%) HP:0002840
39 chronic oral candidiasis 31 very rare (1%) HP:0009098
40 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
41 molluscum contagiosum 31 very rare (1%) HP:0032163
42 elevated urine mevalonic acid 31 very rare (1%) HP:0032638
43 increased circulating igd level 31 very rare (1%) HP:0410246
44 seizures 58 Occasional (29-5%)
45 vertigo 31 HP:0002321
46 nyctalopia 31 HP:0000662
47 optic disc pallor 31 HP:0000543
48 leukocytosis 31 HP:0001974
49 neutrophilia 31 HP:0011897

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Hyper-Igd Syndrome:


vomiting; abdominal pain; arthralgia; headache; diarrhea

Drugs & Therapeutics for Hyper-Igd Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2 Pharmaceutical Solutions Phase 3
3 Immunoglobulins Phase 3
4 Antibodies Phase 3
5 Immunoglobulins, Intravenous Phase 3
6
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
2 A Randomized, Double-blind, Placebo Controlled Study of Canakinumab in Patients With Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF), With Subsequent Randomized Withdrawal/Dosing Frequency Reduction and Open-label Long-term Treatment Epochs Completed NCT02059291 Phase 3 Canakinumab;Placebo
3 An Extension Study of CACZ885N2301 (NCT02059291), Multi-center, Open Label Study of Canakinumab in Japanese Patients With Periodic Fever Syndromes (Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Hyper Immunoglobulin D Syndrome ((Also Known as Mevalonate Kinase Deficiency) (HIDS/MKD), or Colchicine Resistant/Intolerant Familial Mediterranean Fever (crFMF)) Completed NCT02911857 Phase 3
4 An Open-label, Multicenter, Efficacy and Safety Pilot Study of 6-month Canakinumab Treatment With up to 6-month Follow-up in Patients With Active Hyper-IgD Syndrome (HIDS) Completed NCT01303380 Phase 2 Canakinumab
5 A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II) Active, not recruiting NCT03041324 Phase 1, Phase 2
6 B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD) 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:

40
Bone, Myeloid, Skin, Prostate

Publications for Hyper-Igd Syndrome

Articles related to Hyper-Igd Syndrome:

(show top 50) (show all 324)
# Title Authors PMID Year
1
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. 57 6 61
15536479 2005
2
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. 61 57 6
12563048 2003
3
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. 6 57 61
12444096 2002
4
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 61 57 6
11313769 2001
5
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. 61 57 6
10369261 1999
6
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. 6 57 61
10369262 1999
7
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. 57 6
24084495 2013
8
Retinitis pigmentosa in mevalonate kinase deficiency. 57 6
16435210 2005
9
Natural history of mevalonate kinase deficiency: a literature review. 6 61
27142780 2016
10
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS). 61 6
26977311 2016
11
Treatment of adult hyper-IgD syndrome with canakinumab. 6 61
26116953 2015
12
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred. 61 6
25708585 2015
13
Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. 6 61
24561416 2014
14
Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan. 61 6
24233262 2014
15
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency. 61 6
24177804 2014
16
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. 6 61
23692791 2012
17
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. 6 61
22038276 2012
18
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. 61 6
21399979 2011
19
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. 61 6
20194276 2010
20
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. 6 61
19011501 2008
21
A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. 61 6
16707534 2006
22
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. 6 61
16835861 2006
23
First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. 61 57
15457465 2004
24
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. 6 61
13130485 2003
25
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. 61 6
12634869 2003
26
Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group. 61 57
7989036 1994
27
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. 61 57
8190036 1994
28
A clinical update on inflammasomopathies. 61 20
28387826 2017
29
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. 6
29047407 2017
30
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency. 6
28501347 2017
31
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. 20 61
28497352 2017
32
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. 6
28095071 2017
33
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome. 61 20
27856657 2016
34
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry. 6
27213830 2016
35
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
36
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. 6
27012807 2016
37
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study. 6
25866490 2015
38
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. 6
24470648 2014
39
Weekly oral alendronate in mevalonate kinase deficiency. 6
24360083 2013
40
Severe early-onset colitis revealing mevalonate kinase deficiency. 6
23979089 2013
41
Recurrent fevers and failure to thrive in an infant. 6
23998246 2013
42
Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis. 6
23834120 2013
43
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. 6
23146290 2012
44
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 6
22983302 2012
45
Perinatal onset mevalonate kinase deficiency. 6
21425920 2011
46
Significant liver disease in a patient with Y116H mutation in the MVK gene. 6
21548022 2011
47
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
48
Differentiating PFAPA syndrome from monogenic periodic fevers. 6
19786432 2009
49
Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation. 6
17105862 2006
50
Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome. 6
15804303 2005

Variations for Hyper-Igd Syndrome

ClinVar genetic disease variations for Hyper-Igd Syndrome:

6 (show top 50) (show all 252)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MVK NM_000431.4(MVK):c.630G>A (p.Trp210Ter) SNV Pathogenic 812112 rs1593021917 GRCh37: 12:110023929-110023929
GRCh38: 12:109586124-109586124
2 MVK NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs) Duplication Pathogenic 88837 rs104895323 GRCh37: 12:110019245-110019246
GRCh38: 12:109581440-109581441
3 MVK NM_000431.4(MVK):c.500C>T (p.Pro167Leu) SNV Pathogenic 39725 rs104895300 GRCh37: 12:110019328-110019328
GRCh38: 12:109581523-109581523
4 MVK NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) SNV Pathogenic 97561 rs104895358 GRCh37: 12:110032953-110032953
GRCh38: 12:109595148-109595148
5 MVK NM_000431.4(MVK):c.59A>C (p.His20Pro) SNV Pathogenic 11931 rs104895295 GRCh37: 12:110012686-110012686
GRCh38: 12:109574881-109574881
6 MVK NM_000431.4(MVK):c.803T>C (p.Ile268Thr) SNV Pathogenic 11932 rs104895304 GRCh37: 12:110029080-110029080
GRCh38: 12:109591275-109591275
7 MVK NM_000431.4(MVK):c.494C>T (p.Pro165Leu) SNV Pathogenic 11933 rs121917790 GRCh37: 12:110019322-110019322
GRCh38: 12:109581517-109581517
8 MVK NM_000431.4(MVK):c.604G>A (p.Gly202Arg) SNV Pathogenic 39726 rs104895301 GRCh37: 12:110023903-110023903
GRCh38: 12:109586098-109586098
9 MVK NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) SNV Pathogenic 11930 rs104895317 GRCh37: 12:110032947-110032947
GRCh38: 12:109595142-109595142
10 MVK NM_000431.4(MVK):c.346T>C (p.Tyr116His) SNV Pathogenic 97581 rs104895382 GRCh37: 12:110017726-110017726
GRCh38: 12:109579921-109579921
11 MVK NM_000431.4(MVK):c.1129G>A (p.Val377Ile) SNV Pathogenic 11929 rs28934897 GRCh37: 12:110034320-110034320
GRCh38: 12:109596515-109596515
12 MVK NM_000431.4(MVK):c.803T>C (p.Ile268Thr) SNV Pathogenic 11932 rs104895304 GRCh37: 12:110029080-110029080
GRCh38: 12:109591275-109591275
13 MVK NM_000431.4(MVK):c.1129G>A (p.Val377Ile) SNV Pathogenic 11929 rs28934897 GRCh37: 12:110034320-110034320
GRCh38: 12:109596515-109596515
14 MVK NM_000431.4(MVK):c.346T>C (p.Tyr116His) SNV Pathogenic 97581 rs104895382 GRCh37: 12:110017726-110017726
GRCh38: 12:109579921-109579921
15 MVK NM_000431.4(MVK):c.830G>A (p.Arg277His) SNV Pathogenic 97631 rs104895352 GRCh37: 12:110029107-110029107
GRCh38: 12:109591302-109591302
16 MVK NM_000431.4(MVK):c.545T>A (p.Leu182Ter) SNV Pathogenic 573681 rs1566147222 GRCh37: 12:110023844-110023844
GRCh38: 12:109586039-109586039
17 MVK NM_000431.4(MVK):c.928G>A (p.Val310Met) SNV Pathogenic 11934 rs104895319 GRCh37: 12:110032875-110032875
GRCh38: 12:109595070-109595070
18 MVK NM_000431.4(MVK):c.803T>C (p.Ile268Thr) SNV Pathogenic 11932 rs104895304 GRCh37: 12:110029080-110029080
GRCh38: 12:109591275-109591275
19 MVK NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) SNV Pathogenic 11930 rs104895317 GRCh37: 12:110032947-110032947
GRCh38: 12:109595142-109595142
20 MVK NM_000431.4(MVK):c.1139A>G (p.His380Arg) SNV Pathogenic 97569 rs104895324 GRCh37: 12:110034330-110034330
GRCh38: 12:109596525-109596525
21 MVK NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) Duplication Pathogenic 88836 rs104895322 GRCh37: 12:110012698-110012699
GRCh38: 12:109574893-109574894
22 MVK NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) SNV Pathogenic 97572 rs104895360 GRCh37: 12:110034353-110034353
GRCh38: 12:109596548-109596548
23 MVK NM_000431.4(MVK):c.58C>A (p.His20Asn) SNV Pathogenic 649235 rs11544299 GRCh37: 12:110012685-110012685
GRCh38: 12:109574880-109574880
24 MVK NM_000431.4(MVK):c.643C>T (p.Arg215Ter) SNV Pathogenic 234379 rs758026399 GRCh37: 12:110024570-110024570
GRCh38: 12:109586765-109586765
25 MVK NM_000431.4(MVK):c.59A>C (p.His20Pro) SNV Pathogenic 11931 rs104895295 GRCh37: 12:110012686-110012686
GRCh38: 12:109574881-109574881
26 MVK NM_000431.4(MVK):c.129_130del (p.His44fs) Deletion Pathogenic 97574 rs104895368 GRCh37: 12:110013851-110013852
GRCh38: 12:109576046-109576047
27 MVK NM_000431.4(MVK):c.1129G>A (p.Val377Ile) SNV Pathogenic/Likely pathogenic 11929 rs28934897 GRCh37: 12:110034320-110034320
GRCh38: 12:109596515-109596515
28 MVK NM_000431.4(MVK):c.608T>C (p.Val203Ala) SNV Likely pathogenic 97601 rs104895332 GRCh37: 12:110023907-110023907
GRCh38: 12:109586102-109586102
29 MVK NM_000431.4(MVK):c.687_688TC[1] (p.Leu230fs) Microsatellite Likely pathogenic 802890 rs1593026935 GRCh37: 12:110028584-110028585
GRCh38: 12:109590779-109590780
30 MVK NM_000431.4(MVK):c.494C>T (p.Pro165Leu) SNV Likely pathogenic 11933 rs121917790 GRCh37: 12:110019322-110019322
GRCh38: 12:109581517-109581517
31 MVK NM_000431.4(MVK):c.78+1G>A SNV Likely pathogenic 960301 GRCh37: 12:110012706-110012706
GRCh38: 12:109574901-109574901
32 MVK NM_000431.4(MVK):c.79-2A>G SNV Likely pathogenic 943304 GRCh37: 12:110013801-110013801
GRCh38: 12:109575996-109575996
33 MVK NM_000431.4(MVK):c.987C>G (p.Ser329Arg) SNV Likely pathogenic 848443 GRCh37: 12:110032934-110032934
GRCh38: 12:109595129-109595129
34 MVK NM_000431.4(MVK):c.724A>G (p.Asn242Asp) SNV Uncertain significance 852674 GRCh37: 12:110028622-110028622
GRCh38: 12:109590817-109590817
35 MVK NM_000431.4(MVK):c.870G>T (p.Gln290His) SNV Uncertain significance 853846 GRCh37: 12:110029147-110029147
GRCh38: 12:109591342-109591342
36 MVK NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) SNV Uncertain significance 854441 GRCh37: 12:110034264-110034264
GRCh38: 12:109596459-109596459
37 MVK NM_000431.4(MVK):c.775G>A (p.Glu259Lys) SNV Uncertain significance 854659 GRCh37: 12:110029052-110029052
GRCh38: 12:109591247-109591247
38 MVK NM_000431.4(MVK):c.520G>A (p.Val174Ile) SNV Uncertain significance 855436 GRCh37: 12:110019348-110019348
GRCh38: 12:109581543-109581543
39 MVK NM_000431.4(MVK):c.511G>A (p.Gly171Arg) SNV Uncertain significance 97595 rs104895337 GRCh37: 12:110019339-110019339
GRCh38: 12:109581534-109581534
40 MVK NM_000431.4(MVK):c.187G>A (p.Asp63Asn) SNV Uncertain significance 861832 GRCh37: 12:110013911-110013911
GRCh38: 12:109576106-109576106
41 MVK NM_000431.4(MVK):c.755A>G (p.Asn252Ser) SNV Uncertain significance 862618 GRCh37: 12:110028653-110028653
GRCh38: 12:109590848-109590848
42 MVK NM_000431.4(MVK):c.298G>A (p.Asp100Asn) SNV Uncertain significance 863857 GRCh37: 12:110017678-110017678
GRCh38: 12:109579873-109579873
43 MVK NM_000431.4(MVK):c.961G>A (p.Val321Met) SNV Uncertain significance 654807 rs779869991 GRCh37: 12:110032908-110032908
GRCh38: 12:109595103-109595103
44 MVK NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) SNV Uncertain significance 307101 rs886048934 GRCh37: 12:110034354-110034354
GRCh38: 12:109596549-109596549
45 MVK NM_000431.4(MVK):c.361C>T (p.Arg121Trp) SNV Uncertain significance 837299 GRCh37: 12:110017741-110017741
GRCh38: 12:109579936-109579936
46 MVK NM_000431.4(MVK):c.394G>A (p.Val132Ile) SNV Uncertain significance 97586 rs104895336 GRCh37: 12:110019222-110019222
GRCh38: 12:109581417-109581417
47 MVK NM_000431.4(MVK):c.14T>C (p.Val5Ala) SNV Uncertain significance 234376 rs141765653 GRCh37: 12:110012641-110012641
GRCh38: 12:109574836-109574836
48 MVK NM_000431.4(MVK):c.80T>G (p.Val27Gly) SNV Uncertain significance 943307 GRCh37: 12:110013804-110013804
GRCh38: 12:109575999-109575999
49 MVK NM_000431.4(MVK):c.371+4T>C SNV Uncertain significance 944766 GRCh37: 12:110017755-110017755
GRCh38: 12:109579950-109579950
50 MVK NM_000431.4(MVK):c.527+10G>A SNV Uncertain significance 791747 rs368909134 GRCh37: 12:110019365-110019365
GRCh38: 12:109581560-109581560

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

72 (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

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 10.31 TNFRSF1A IL1RN

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 9.02 TNFRSF1A SAA1 PTX3 IL1RN CRP

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 SAA1 PTX3 CRP
2 cytokine-mediated signaling pathway GO:0019221 9.54 TNFRSF1A SAA1 IL1RN
3 negative regulation of inflammatory response GO:0050728 9.5 TNFRSF1A SAA1 MVK
4 inflammatory response GO:0006954 9.46 TNFRSF1A PTX3 IL1RN CRP
5 opsonization GO:0008228 9.26 PTX3 CRP
6 negative regulation by host of viral process GO:0044793 8.96 PTX3 CRP
7 acute-phase response GO:0006953 8.8 SAA1 IL1RN CRP

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 TNFRSF1A PTX3 MVK CRP
2 virion binding GO:0046790 8.96 PTX3 CRP
3 complement component C1q binding GO:0001849 8.62 PTX3 CRP

Sources for Hyper-Igd Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....