DH
MCID: DRM040
MIFTS: 36

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 57
Dermatitis Herpetiformis 59 72
Duhring-Brocq Disease 59
Dh 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
dermatitis herpetiformis, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 601230
MESH via Orphanet 45 D003874
ICD10 via Orphanet 34 L13.0
UMLS via Orphanet 73 C0011608
Orphanet 59 ORPHA1656
MedGen 42 C1832586
UMLS 72 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, small intestine and testes, 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 329)
# 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 occipital calcifications 11.4
5 dehydrated hereditary stomatocytosis 2 11.2
6 deafness-hypogonadism syndrome 11.2
7 pemphigus 10.9
8 skin disease 10.9
9 exanthem 10.8
10 pemphigus vulgaris, familial 10.6
11 lymphoma 10.6
12 lupus erythematosus 10.6
13 erythema multiforme 10.5
14 linear iga disease 10.5
15 gastritis 10.5
16 pemphigoid gestationis 10.5
17 atrophic gastritis 10.5
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
19 vitiligo-associated multiple autoimmune disease susceptibility 1 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 ulcerative colitis 10.4
27 systemic lupus erythematosus 10.4
28 hypothyroidism 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 urticaria 10.3
39 discoid lupus erythematosus 10.3
40 pernicious anemia 10.3
41 rheumatoid arthritis 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 59 32 Very frequent (99-80%) HP:0000989
2 malabsorption 59 Very frequent (99-80%)
3 abnormal blistering of the skin 59 Very frequent (99-80%)
4 edema 59 Occasional (29-5%)
5 erythema 59 Very frequent (99-80%)
6 macule 59 Very frequent (99-80%)
7 skin vesicle 59 Very frequent (99-80%)
8 urticaria 59 Very frequent (99-80%)
9 autoimmunity 59 Very frequent (99-80%)
10 microcytic anemia 59 Very frequent (99-80%)
11 recurrent fractures 59 Very frequent (99-80%)
12 bone pain 59 Occasional (29-5%)
13 eczema 59 Frequent (79-30%)
14 lichenification 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
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 58-05-9 143 6006
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Folic Acid Antagonists Phase 4
5 Anti-Infective Agents Phase 4
6 Vitamin B9 Phase 4
7 Anti-Bacterial Agents Phase 4
8 Antiparasitic Agents Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Antimalarials Phase 4
12 Antiprotozoal Agents Phase 4
13 Antibodies Phase 1, Phase 2
14 Immunoglobulins 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 72 / NDF-RT 51 :


Dapsone
SULFAPYRIDINE PWDR

Genetic Tests for Dermatitis Herpetiformis, Familial

Anatomical Context for Dermatitis Herpetiformis, Familial

MalaCards organs/tissues related to Dermatitis Herpetiformis, Familial:

41
Skin, Small Intestine, Testes, T Cells, Neutrophil, Bone, Thyroid

Publications for Dermatitis Herpetiformis, Familial

Articles related to Dermatitis Herpetiformis, Familial:

(show top 50) (show all 2066)
# Title Authors PMID Year
1
A new model for dermatitis herpetiformis that uses HLA-DQ8 transgenic NOD mice. 38 8
15489956 2004
2
Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs. 38 8
12485471 2002
3
Epidermal transglutaminase (TGase 3) is the autoantigen of dermatitis herpetiformis. 38 8
11901200 2002
4
Incidence of familial dermatitis herpetiformis. 38 8
8731659 1996
5
Atypical manifestations of disseminated cutaneous botryomycosis mimicking dermatitis herpetiformis in an immunocompetent adult woman. 38
31368455 2019
6
Clinical, pathologic, and immunologic features of pemphigus herpetiformis: a literature review and proposed diagnostic criteria. 38
30900757 2019
7
Evaluation of serum cytokine and chemokine levels in dermatitis herpetiformis: a systematic review and meta-analysis. 38
31313215 2019
8
Risk of fractures in dermatitis herpetiformis and coeliac disease: a register-based study. 38
31280614 2019
9
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. 38
31048663 2019
10
A Case of Dermatitis Herpetiformis With Fibrillar Immunoglobulin A Deposition: A Rare Pattern Not to Be Missed. 38
30839342 2019
11
Experimental dapsone administration induces infertility in male Wistar rats: Mechanisms and clinical implications. 38
31387782 2019
12
European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. 38
31210940 2019
13
Sulfasalazine-induced generalized vitiligo in a patient with dermatitis herpetiformis and celiac disease. 38
31237078 2019
14
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. 38
30924131 2019
15
Could anti-glycan antibodies be useful in dermatitis herpetiformis? 38
31251212 2019
16
Dermatitis herpetiformis. 38
31093998 2019
17
Metabolic, pharmacokinetic, and toxicological issues surrounding dapsone. 38
30943794 2019
18
Celiac-Related Autoantibodies and IL-17A in Bulgarian Patients with Dermatitis Herpetiformis: A Cross-Sectional Study. 38
31096650 2019
19
Review of autoimmune blistering diseases: the Pemphigoid diseases. 38
31087464 2019
20
C4d immunohistochemical stain of formalin-fixed paraffin-embedded tissue as a sensitive method in the diagnosis of bullous pemphigoid. 38
31069830 2019
21
Consensus on the treatment of autoimmune bullous dermatoses: dermatitis herpetiformis and linear IgA bullous dermatosis - Brazilian Society of Dermatology. 38
31166403 2019
22
DNA damage in human skin fibroblasts from patients with dermatitis herpetiformis. 38
30882351 2019
23
Gluten Challenge Induces Skin and Small Bowel Relapse in Long-Term Gluten-Free Diet-Treated Dermatitis Herpetiformis. 38
30998982 2019
24
[Dermatitis herpetiformis]. 38
30868254 2019
25
Fibrillar-type dermatitis herpetiformis. 38
31106757 2019
26
[Autoimmune blistering dermatoses in children]. 38
30941468 2019
27
HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study. 38
30779476 2019
28
[Linear IgA bullous dermatosis]. 38
30874843 2019
29
Prevalence of gluten-related disorders in Asia-Pacific region: a systematic review. 38
30851178 2019
30
Dermatitis Herpetiformis and Celiac Disease Increase the Risk of Bullous Pemphigoid. 38
30612975 2019
31
Gluten-Induced Extra-Intestinal Manifestations in Potential Celiac Disease-Celiac Trait. 38
30717318 2019
32
Coeliac disease. 38
30099930 2019
33
Transglutaminase diseases: from biochemistry to the bedside. 38
30593123 2019
34
Facial Involvement in Dermatitis Herpetiformis: A Case Report and Review of the Literature. 38
30103636 2019
35
Dermatitis Herpetiformis: Novel Perspectives. 38
31244841 2019
36
Complement Activation in Autoimmune Bullous Dermatoses: A Comprehensive Review. 38
31293600 2019
37
Granular IgA Deposits in the Skin of Patients with Coeliac Disease: Is it Always Dermatitis Herpetiformis? 38
29972219 2019
38
MPGN Type 3 Associated with Pemphigus Herpetiformis Mimicking PGNMID and Dermatitis Herpetiformis. 38
31019928 2019
39
Increased risk of herpes zoster in patients with coeliac disease - nationwide cohort study. 38
28701089 2018
40
Bullous autoimmune dermatoses. 38
30395395 2018
41
IMMUNE MEDIATED DISEASES IN PATIENTS WITH CELIAC DISEASE AND THEIR RELATIVES: A COMPARATIVE STUDY OF AGE AND SEX. 38
30785517 2018
42
Two Cases of Dermatitis Herpetiformis Successfully Treated with Tetracycline and Niacinamide. 38
30390734 2018
43
Are antiepidermal transglutaminase antibodies titre correlated with dermatitis herpetiformis lesions during the disease follow-up? 38
27845514 2018
44
Therapeutic effect of ascorbic acid on dapsone-induced methemoglobinemia in rats. 38
30269455 2018
45
Coeliac disease and dermatitis herpetiformis. 38
30238885 2018
46
Coeliac disease and dermatitis herpetiformis. 38
30238886 2018
47
Coeliac disease and dermatitis herpetiformis - Authors' reply. 38
30238888 2018
48
Sensitivity of Transglutaminase 3 in the IgA Aggregates in Dermatitis Herpetiformis Skin to Potassium Iodide. 38
29571943 2018
49
Diagnosis of autoimmune bullous diseases. 38
30179336 2018
50
Diagnostik blasenbildender Autoimmundermatosen. 38
30179341 2018

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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