ORPHA:343
Hyperimmunoglobulinemia D with periodic fever
Synonyms: HIDS · Hyper-IgD syndrome · Hyperimmunoglobinemia D with recurrent fever · Hyperimmunoglobulinemia D syndrome · Partial mevalonate kinase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperimmunoglobulinemia D with periodic fever | HIDS · Hyper-IgD syndrome · Hyperimmunoglobinemia D with recurrent fever · Hyperimmunoglobulinemia D syndrome · Partial mevalonate kinase deficiency |
| fr | Syndrome de fièvre périodique avec hyperimmunoglobulinémie D | Déficit partiel en mévalonate kinase · Fièvre récurrente avec hyper-IgD · Fièvre récurrente avec hyperimmunoglobulinémie D · HIDS · Syndrome hyper-IgD |
| de | Hyperimmunglobulinämie D mit Rückfallfieber | HIDS · Hyper-IgD-Syndrom · Hyperimmunglobulinämie D mit periodischem Fieber · Hyperimmunglobulinämie D-Syndrom · Mevalonatkinase-Mangel, partieller |
| es | Hiperinmunoglobulinemia D con fiebre periódica | Deficiencia parcial de mevalonato quinasa · HIDS · Hiperinmunoglobulinemia D con fiebre recurrente · SHID · Síndrome de hiper-IgD · Síndrome de hiperinmunoglobulinemia D |
| it | Iperimmunoglobulinemia D con febbre periodica | Deficit parziale di mevalonato chinasi · HIDS · Iperimmunoglobinemia D con febbre ricorrente · Sindrome da iper-IgD · Sindrome da iperimmunoglobulinemia D |
| nl | Hyperimmunoglobulinemie D met periodieke koorts | HIDS · Hyper-IgD-syndroom · Hyperimmunoglobulinemie D met recidiverende koorts · Hyperimmunoglobulinemie D-syndroom · Partiële deficiëntie van mevalonaatkinase |
| pt | Hiperimunoglobulinemia D com febre recorrente | Hiperimunoglobulinemia D com febre periódica · Síndrome hiper-IgD |
| pl | Hiperimmunoglobulinemia D z gorączką okresową | Częściowy Niedobór kinazy mewalonianowej · HIDS · Hyperimmunoglobinemia D z gorączką nawracającą · Zespół hiper-IgD · Zespół hiperimmunoglobulinemii D |
| cs | Hyperimunoglobulinemie D s periodickou horečkou | HIDS · Hyper-IgD syndrom · Syndrom hyperimunoglobulinemie D · Parciální deficit mevalonát kinázy · Hyperimunoglobinemie D s návratnou horečkou |
| uk | Гіперімуноглобулінемія D з періодичною лихоманкою | HIDS · Синдром гіпер-IgD · Гіперімуноглобінемія D з рецидивуючою лихоманкою · Синдром гіперімуноглобулінемії D · Частковий дефіцит мевалонаткінази |
| zh | 高免疫球蛋白血症 D型伴周期性发热 | 高免疫球蛋白D血症伴周期性发热 |
| tr | Periyodik ateşle birlikte hiperimmünoglobulinemi D | HIDS · Hiper IgD sendromu · Hiperimmünoglobulinemi D sendromu · Kısmi mevalonat kinaz eksikliği · Tekrarlayan ateş ile seyreden hiperimmünoglobinemi D |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260920 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | index | validated |
| MONDO | 0009849 | E | validated | |
| UMLS | C0398691 | E | validated | |
| GARD | 2788 | E | validated | |
| MedDRA | 10072010 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:309025Mevalonate kinase deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MVK | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase | 11313769[PMID]_10369262[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002829 | Arthralgia | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002240 | Hepatomegaly | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0002716 | Lymphadenopathy | |
| HP:0003326 | Myalgia | |
| HP:0001954 | Recurrent fever | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0002014 | Diarrhea | |
| HP:0002076 | Migraine | |
| HP:0200034 | Papule | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0001025 | Urticaria | |
| HP:0002633 | Vasculitis | |
| Occasional (29-5%) | ||
| HP:0001063 | Acrocyanosis | |
| HP:0001251 | Ataxia | |
| HP:0010783 | Erythema | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0005214 | Intestinal obstruction | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002586 | Peritonitis | |
| HP:0000979 | Purpura | |
| HP:0001250 | Seizure | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/343
- This record as JSON: /data/d/343.json