Hyperimmunoglobulinemia D with periodic fever

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME
PERIODIC FEVER, DUTCH TYPE
HIDS
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Hyper-IgD syndrome
Partial mevalonate kinase deficiency
Number of Symptoms 51
OrphanetNr: 343
OMIM Id: 260920
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 200 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Hereditary periodic fever syndrome
 -Rare genetic disease
 -Rare systemic or rheumatologic disease
Mevalonate kinase deficiency
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
2
 (HPO:0000662) Nyctalopia 92 / 7739
3
 (HPO:0000510) Rod-cone dystrophy rare [HPO:skoehler] 266 / 7739
4
 (HPO:0000543) Optic disc pallor 67 / 7739
5
 (HPO:0002321) Vertigo 58 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
8
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
9
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
10
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
11
 (HPO:0001369) Arthritis 44 / 7739
12
 (HPO:0002829) Arthralgia 79 / 7739
13
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
14
 (HPO:0002239) Gastrointestinal hemorrhage Very frequent [Orphanet] 97 / 7739
15
 (HPO:0002013) Vomiting 191 / 7739
16
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
17
 (HPO:0001744) Splenomegaly 337 / 7739
18
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
19
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
20
 (HPO:0100592) Peritoneal abscess Occasional [Orphanet] 10 / 7739
21
 (HPO:0002014) Diarrhea Frequent [Orphanet] 225 / 7739
22
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
23
 (HPO:0001034) Hypermelanotic macule 22 / 7739
24
 (HPO:0001063) Acrocyanosis Occasional [Orphanet] 56 / 7739
25
 (HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
26
 (HPO:0000988) Skin rash 98 / 7739
27
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
28
 (HPO:0001025) Urticaria Frequent [Orphanet] 73 / 7739
29
 (HPO:0012089) Arteritis Frequent [Orphanet] 40 / 7739
30
 (HPO:0001974) Leukocytosis 33 / 7739
31
 (HPO:0003261) Increased IgA level 12 / 7739
32
 (HPO:0011897) Neutrophillia 4 / 7739
33
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
34
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
35
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
36
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
37
 (HPO:0008940) Generalized lymphadenopathy 14 / 7739
38
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
40
 (OMIM) Stiff skin Frequent [Orphanet] 31 / 7739
41
 (OMIM) Leukocytosis (mean leukocyte count 18.7 x 10(9)/L) 1 / 7739
42
 (OMIM) Reduced cone responses on electroretinography 1 / 7739
43
 (OMIM) Intraretinal pigmentation 1 / 7739
44
 (OMIM) Attenuated retinal vessels 4 / 7739
45
 (OMIM) Mildly elevated urinary mevalonic acid 1 / 7739
46
 (OMIM) Decreased or undetectable rod responses on electroretinography 1 / 7739
47
 (OMIM) Visual field loss 3 / 7739
48
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Peripheral atrophy of retinal pigment epithelium 2 / 7739
51
 (OMIM) Elevated polyclonal IgD (equal to or greater than 100 IU/ml) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van der Meer et al. (1984) described a possibly distinct syndrome on the basis of 6 patients of Dutch ancestry with a long history of recurrent attacks of fever of unknown origin. They found a high serum IgD ...
Molecular genetics OMIM Houten et al. (1999) and Drenth et al. (1999) demonstrated mutations in the gene encoding mevalonate kinase in families with hyper-IgD syndrome; see, for example, V377I (251170.0002) and I268T (251170.0004).

Cuisset et al. (2001) studied 25 ...
Population genetics OMIM Drenth and van der Meer (2001) stated that the hyper-IgD syndrome registry in Nijmegen, the Netherlands, had clinical data on more than 170 published and unpublished cases of hyper-IgD syndrome worldwide. Most were white and from western European ...