Information on HIDS
Basic details
Name: Hyper-IgD syndrome | Acronym: HIDS
Alt. names: Mevalonate kinase deficiency
Gene: MVK | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1999
Last updated on: 2023-02-28 16:41:18 by
Description
In Mevalonic aciduria, diagnosis can be challenging, and effective treatment is available with specific agents (eg, steroids, leukotriene receptor antagonists); In Hyper-IgD syndrome, accurate diagnosis may be beneficial in order to avoid unnecessary surgery for suspected appendicitis/acute abdomen; Medical treatment (eg, corticosteroids, leukotriene receptor inhibitors) during the acute phase can be effective, as well as medical treatment in the non-acute phase. Refs. PMIDs: 6144826; 3012338; 8386351; 8190036; 8973873; 10369262; 10369261; 11313769; 11742050; 15149516; 15457465; 15536479; 16835861; 18409191; 20194276; 21399979; 21548022; 22159817; 22246419; 22271696; 22983302
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Lymphadenopathy |
82 (82.0%) | 0 (0.0%) | 18 (18.0%) |
| 2 | Abdominal pain |
74 (67.3%) | 0 (0.0%) | 36 (32.7%) |
| 3 | Increased circulating IgD level |
53 (88.3%) | 0 (0.0%) | 7 (11.7%) |
| 4 | Recurrent fevers |
50 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Chronic diarrhea |
44 (73.3%) | 0 (0.0%) | 16 (26.7%) |
| 6 | Splenomegaly |
42 (70.0%) | 0 (0.0%) | 18 (30.0%) |
| 7 | Diarrhea |
41 (82.0%) | 0 (0.0%) | 9 (18.0%) |
| 8 | Arthritis |
40 (66.7%) | 0 (0.0%) | 20 (33.3%) |
| 9 | Chills |
38 (76.0%) | 0 (0.0%) | 12 (24.0%) |
| 10 | Arthralgia |
33 (66.0%) | 0 (0.0%) | 17 (34.0%) |
| 11 | Elevated urine mevalonic acid |
33 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Vomiting |
31 (51.7%) | 0 (0.0%) | 29 (48.3%) |
| 13 | Infantile onset |
30 (60.0%) | 0 (0.0%) | 20 (40.0%) |
| 14 | Headaches |
26 (52.0%) | 0 (0.0%) | 24 (48.0%) |
| 15 | Increased IgA levels |
26 (65.0%) | 0 (0.0%) | 14 (35.0%) |
| 16 | Skin rash |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Recurrent infections |
13 (26.0%) | 0 (0.0%) | 37 (74.0%) |
| 18 | elevated ESR |
10 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Hepatosplenomegaly |
10 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Lymphadenitis |
8 (80.0%) | 0 (0.0%) | 2 (20.0%) |
| 21 | Myalgia |
8 (80.0%) | 0 (0.0%) | 2 (20.0%) |
| 22 | Oral ulcer |
6 (60.0%) | 0 (0.0%) | 4 (40.0%) |
| 23 | Renal angiomyolipoma |
3 (6.0%) | 0 (0.0%) | 47 (94.0%) |
| 24 | Serositis |
3 (6.0%) | 0 (0.0%) | 47 (94.0%) |
| 25 | Oral candidiasis |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 26 | Febrile seizure (within the age range of 3 months to 6 years) |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 27 | Molluscum contagiosum |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.