DH
MCID: DRM040
MIFTS: 35

Dermatitis Herpetiformis, Familial (DH)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatitis Herpetiformis, Familial

MalaCards integrated aliases for Dermatitis Herpetiformis, Familial:

Name: Dermatitis Herpetiformis, Familial 56
Dermatitis Herpetiformis 58 71
Duhring-Brocq Disease 58
Dh 56

Characteristics:

Orphanet epidemiological data:

58
dermatitis herpetiformis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Italy),1-9/100000 (Ireland),1-5/10000 (Ireland); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
dermatitis herpetiformis, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 601230
MESH via Orphanet 44 D003874
ICD10 via Orphanet 33 L13.0
UMLS via Orphanet 72 C0011608
Orphanet 58 ORPHA1656
MedGen 41 C1832586
UMLS 71 C0011608

Summaries for Dermatitis Herpetiformis, Familial

MalaCards based summary : Dermatitis Herpetiformis, Familial, also known as dermatitis herpetiformis, is related to juvenile dermatitis herpetiformis and bullous pemphigoid. The drugs leucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and small intestine, and related phenotypes are pruritus and malabsorption

More information from OMIM: 601230

Related Diseases for Dermatitis Herpetiformis, Familial

Diseases in the Dermatitis Herpetiformis family:

Dermatitis Herpetiformis, Familial Juvenile Dermatitis Herpetiformis

Diseases related to Dermatitis Herpetiformis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 juvenile dermatitis herpetiformis 12.7
2 bullous pemphigoid 12.3
3 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.3
4 epilepsy with bilateral occipital calcifications 11.4
5 dehydrated hereditary stomatocytosis 2 11.2
6 deafness-hypogonadism syndrome 11.2
7 skin disease 10.9
8 pemphigus 10.9
9 exanthem 10.8
10 pemphigus vulgaris, familial 10.6
11 lymphoma 10.6
12 lupus erythematosus 10.5
13 erythema multiforme 10.5
14 linear iga disease 10.5
15 gastritis 10.5
16 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
17 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
18 pemphigoid gestationis 10.5
19 atrophic gastritis 10.5
20 epidermolysis bullosa 10.5
21 glomerulonephritis 10.5
22 pustulosis of palm and sole 10.5
23 psoriasis 10.5
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
25 intestinal disease 10.4
26 systemic lupus erythematosus 10.4
27 hypothyroidism 10.4
28 ulcerative colitis 10.4
29 hemimelia 10.4
30 purpura 10.4
31 pulmonary hemosiderosis 10.3
32 hemosiderosis 10.3
33 myoma 10.3
34 choriocarcinoma 10.3
35 colitis 10.3
36 generalized epilepsy with febrile seizures plus 10.3
37 allergic hypersensitivity disease 10.3
38 inflammatory bowel disease 10.3
39 urticaria 10.3
40 discoid lupus erythematosus 10.3
41 pernicious anemia 10.3
42 reticulum cell sarcoma 10.3
43 ataxia and polyneuropathy, adult-onset 10.3
44 immunoglobulin alpha deficiency 10.3
45 sarcoma 10.3
46 primary biliary cirrhosis 10.3
47 pyoderma 10.3
48 spindle cell sarcoma 10.3
49 epidermolysis bullosa acquisita 10.3
50 thyroiditis 10.3

Graphical network of the top 20 diseases related to Dermatitis Herpetiformis, Familial:



Diseases related to Dermatitis Herpetiformis, Familial

Symptoms & Phenotypes for Dermatitis Herpetiformis, Familial

Human phenotypes related to Dermatitis Herpetiformis, Familial:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 58 31 Very frequent (99-80%) HP:0000989
2 malabsorption 58 Very frequent (99-80%)
3 abnormal blistering of the skin 58 Very frequent (99-80%)
4 edema 58 Occasional (29-5%)
5 erythema 58 Very frequent (99-80%)
6 macule 58 Very frequent (99-80%)
7 skin vesicle 58 Very frequent (99-80%)
8 urticaria 58 Very frequent (99-80%)
9 autoimmunity 58 Very frequent (99-80%)
10 microcytic anemia 58 Very frequent (99-80%)
11 recurrent fractures 58 Very frequent (99-80%)
12 bone pain 58 Occasional (29-5%)
13 eczema 58 Frequent (79-30%)
14 lichenification 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Skin:
dermatitis herpetiformis

Lab:
associated with hla dqa1*0501 (146880) and b1*0201 (142857)

Misc:
affected first-degree relatives more often females

Clinical features from OMIM:

601230

Drugs & Therapeutics for Dermatitis Herpetiformis, Familial

Drugs for Dermatitis Herpetiformis, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 6006 143
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Anti-Bacterial Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Vitamin B Complex Phase 4
7 Folic Acid Antagonists Phase 4
8 Antiparasitic Agents Phase 4
9 Antimalarials Phase 4
10 Vitamin B9 Phase 4
11 Folate Phase 4
12 Antiprotozoal Agents Phase 4
13 Immunoglobulins Phase 1, Phase 2
14 Antibodies Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dapsone Gel, 5% for Topical Treatment of Dermatitis Herpetiformis Terminated NCT01115244 Phase 4 Dapsone gel, 5%
2 Effect of a Cocktail of Two Common Enzyme Supplements on Celiac Disease Patients With Persistent Seropositivity Completed NCT00962182 Phase 1, Phase 2 STAN1;Placebo enzyme;STAN1+gluten
3 Pharmacokinetics and Distribution of Dapsone (DDS) in Leucocytes After Single-dose and Multiple-dose Administration in Healthy Subjects Genotyped for CYP2C9 and NAT2 and in Patients With Autoimmune Bullous Dermatoses Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
4 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079
5 Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses Recruiting NCT01952275
6 The Role of Trichoscopy in the Preliminary Diagnosis of Immunobollous Diseases Not yet recruiting NCT03478072

Search NIH Clinical Center for Dermatitis Herpetiformis, Familial

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dapsone
SULFAPYRIDINE PWDR

Genetic Tests for Dermatitis Herpetiformis, Familial

Anatomical Context for Dermatitis Herpetiformis, Familial

MalaCards organs/tissues related to Dermatitis Herpetiformis, Familial:

40
Skin, T Cells, Small Intestine, Bone, Thyroid, Testes, Neutrophil

Publications for Dermatitis Herpetiformis, Familial

Articles related to Dermatitis Herpetiformis, Familial:

(show top 50) (show all 2079)
# Title Authors PMID Year
1
A new model for dermatitis herpetiformis that uses HLA-DQ8 transgenic NOD mice. 61 56
15489956 2004
2
Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs. 61 56
12485471 2002
3
Epidermal transglutaminase (TGase 3) is the autoantigen of dermatitis herpetiformis. 61 56
11901200 2002
4
Incidence of familial dermatitis herpetiformis. 61 56
8731659 1996
5
Gliadin-induced ex vivo T cell response in dermatitis herpetiformis: A predictor of clinical relapse on gluten challenge? 61
32035923 2020
6
Rituximab treatment for dermatitis herpetiformis in the setting of type 1 diabetes mellitus, celiac disease, vitiligo, autoimmune hemolytic anemia, and autoimmune thrombocytopenia. 61
32016156 2020
7
Current Concepts of Dermatitis Herpetiformis. 61
32039457 2020
8
Update on the use of dapsone in dermatology. 61
31909480 2020
9
Deciphering crucial genes in coeliac disease by bioinformatics analysis. 61
31809599 2019
10
An update on direct immunofluorescence for diagnosing dermatitis herpetiformis. 61
31997990 2019
11
C4d immunohistochemical stain of formalin-fixed paraffin-embedded tissue as a sensitive method in the diagnosis of bullous pemphigoid. 61
31069830 2019
12
Gender-Related Differences in Celiac Patients at Diagnosis. 61
31785504 2019
13
Dapsone-induced hepatic complications: it's time to think beyond methemoglobinemia. 61
31631707 2019
14
Bullous Diseases in Children: A Review of Clinical Features and Treatment Options. 61
31506891 2019
15
Gluten Challenge Induces Skin and Small Bowel Relapse in Long-Term Gluten-Free Diet-Treated Dermatitis Herpetiformis. 61
30998982 2019
16
Dermatitis herpetiformis. 61
31093998 2019
17
Clinical, pathologic, and immunologic features of pemphigus herpetiformis: a literature review and proposed diagnostic criteria. 61
30900757 2019
18
Experimental dapsone administration induces infertility in male Wistar rats: Mechanisms and clinical implications. 61
31387782 2019
19
Sulfasalazine-induced generalized vitiligo in a patient with dermatitis herpetiformis and celiac disease. 61
31237078 2019
20
Review of autoimmune blistering diseases: the Pemphigoid diseases. 61
31087464 2019
21
Atypical manifestations of disseminated cutaneous botryomycosis mimicking dermatitis herpetiformis in an immunocompetent adult woman. 61
31368455 2019
22
Alopecia in Autoimmune Blistering Diseases: A Systematic Review of Pathogenesis and Clinical Features of Disease. 61
31559249 2019
23
Lichen planopilaris and dermatitis herpetiformis: a fortuitous association? 61
31456575 2019
24
Dermatitis herpetiformis resistant to dapsone due to dietary iodide ingestion. 61
31440565 2019
25
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. 61
31048663 2019
26
A Case of Dermatitis Herpetiformis With Fibrillar Immunoglobulin A Deposition: A Rare Pattern Not to Be Missed. 61
30839342 2019
27
Risk of fractures in dermatitis herpetiformis and coeliac disease: a register-based study. 61
31280614 2019
28
Evaluation of serum cytokine and chemokine levels in dermatitis herpetiformis: a systematic review and meta-analysis. 61
31313215 2019
29
European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. 61
31210940 2019
30
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. 61
30924131 2019
31
Could anti-glycan antibodies be useful in dermatitis herpetiformis? 61
31251212 2019
32
Celiac-Related Autoantibodies and IL-17A in Bulgarian Patients with Dermatitis Herpetiformis: A Cross-Sectional Study. 61
31096650 2019
33
Metabolic, pharmacokinetic, and toxicological issues surrounding dapsone. 61
30943794 2019
34
[Autoimmune blistering dermatoses in children]. 61
30941468 2019
35
HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study. 61
30779476 2019
36
[Linear IgA bullous dermatosis]. 61
30874843 2019
37
[Dermatitis herpetiformis]. 61
30868254 2019
38
DNA damage in human skin fibroblasts from patients with dermatitis herpetiformis. 61
30882351 2019
39
Consensus on the treatment of autoimmune bullous dermatoses: dermatitis herpetiformis and linear IgA bullous dermatosis - Brazilian Society of Dermatology. 61
31166403 2019
40
Fibrillar-type dermatitis herpetiformis. 61
31106757 2019
41
Prevalence of gluten-related disorders in Asia-Pacific region: a systematic review. 61
30851178 2019
42
Dermatitis Herpetiformis and Celiac Disease Increase the Risk of Bullous Pemphigoid. 61
30612975 2019
43
Coeliac disease. 61
30099930 2019
44
Gluten-Induced Extra-Intestinal Manifestations in Potential Celiac Disease-Celiac Trait. 61
30717318 2019
45
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019
46
Facial Involvement in Dermatitis Herpetiformis: A Case Report and Review of the Literature. 61
30103636 2019
47
Dermatitis Herpetiformis: Novel Perspectives. 61
31244841 2019
48
Complement Activation in Autoimmune Bullous Dermatoses: A Comprehensive Review. 61
31293600 2019
49
Dermatitis herpetiformis in an adolescent patient. 61
31644636 2019
50
MPGN Type 3 Associated with Pemphigus Herpetiformis Mimicking PGNMID and Dermatitis Herpetiformis. 61
31019928 2019

Variations for Dermatitis Herpetiformis, Familial

Expression for Dermatitis Herpetiformis, Familial

Search GEO for disease gene expression data for Dermatitis Herpetiformis, Familial.

Pathways for Dermatitis Herpetiformis, Familial

GO Terms for Dermatitis Herpetiformis, Familial

Sources for Dermatitis Herpetiformis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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