DH
MCID: DRM040
MIFTS: 35

Dermatitis Herpetiformis, Familial (DH)

Categories: Gastrointestinal diseases, Genetic 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 58 70
Duhring-Brocq Disease 58
Dh 57

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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
dermatitis herpetiformis, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 601230
MESH via Orphanet 45 D003874
ICD10 via Orphanet 33 L13.0
UMLS via Orphanet 71 C0011608
Orphanet 58 ORPHA1656
MedGen 41 C1832586
UMLS 70 C0011608

Summaries for Dermatitis Herpetiformis, Familial

MalaCards based summary : Dermatitis Herpetiformis, Familial, also known as dermatitis herpetiformis, is related to dermatitis herpetiformis and juvenile dermatitis herpetiformis. The drugs Levoleucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone 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 252)
# Related Disease Score Top Affiliating Genes
1 dermatitis herpetiformis 12.0
2 juvenile dermatitis herpetiformis 11.5
3 bullous pemphigoid 11.4
4 dermatitis 11.4
5 celiac disease 1 11.4
6 pemphigoid 11.3
7 epilepsy with bilateral occipital calcifications 11.1
8 pemphigus 10.9
9 skin disease 10.8
10 exanthem 10.8
11 pemphigus vulgaris, familial 10.6
12 erythema multiforme 10.5
13 linear iga disease 10.5
14 gastritis 10.5
15 pemphigoid gestationis 10.5
16 lupus erythematosus 10.5
17 autoimmune disease 10.4
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
19 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
20 pustulosis of palm and sole 10.4
21 psoriasis 10.4
22 atrophic gastritis 10.4
23 epidermolysis bullosa 10.4
24 glomerulonephritis 10.4
25 intestinal disease 10.4
26 lymphoma 10.4
27 purpura 10.4
28 ulcerative colitis 10.3
29 systemic lupus erythematosus 10.3
30 ataxia and polyneuropathy, adult-onset 10.3
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
32 acrodermatitis 10.3
33 impetigo herpetiformis 10.3
34 impetigo 10.3
35 hypothyroidism 10.3
36 urticaria 10.3
37 thyroiditis 10.3
38 discoid lupus erythematosus 10.3
39 pernicious anemia 10.2
40 reticulum cell sarcoma 10.2
41 dermatitis, atopic 10.2
42 immunoglobulin alpha deficiency 10.2
43 colitis 10.2
44 primary biliary cholangitis 10.2
45 diarrhea 10.2
46 pyoderma 10.2
47 epidermolysis bullosa acquisita 10.2
48 subcorneal pustular dermatosis 10.2
49 pyoderma gangrenosum 10.2
50 vasculitis 10.2

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 autoimmunity 58 Very frequent (99-80%)
4 microcytic anemia 58 Very frequent (99-80%)
5 recurrent fractures 58 Very frequent (99-80%)
6 erythema 58 Very frequent (99-80%)
7 macule 58 Very frequent (99-80%)
8 eczema 58 Frequent (79-30%)
9 urticaria 58 Very frequent (99-80%)
10 bone pain 58 Occasional (29-5%)
11 skin vesicle 58 Very frequent (99-80%)
12 abnormal blistering of the skin 58 Very frequent (99-80%)
13 lichenification 58 Occasional (29-5%)
14 edema 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
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 Vitamin B9 Phase 4
6 Antiparasitic Agents Phase 4
7 Vitamin B Complex Phase 4
8 Antimalarials Phase 4
9 Antiprotozoal Agents Phase 4
10 Anti-Infective Agents Phase 4
11 Folate Phase 4
12 Anti-Bacterial 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 Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses Unknown status NCT01952275

Search NIH Clinical Center for Dermatitis Herpetiformis, Familial

Inferred drug relations via UMLS 70 / 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:

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

Publications for Dermatitis Herpetiformis, Familial

Articles related to Dermatitis Herpetiformis, Familial:

(show top 50) (show all 2131)
# Title Authors PMID Year
1
A new model for dermatitis herpetiformis that uses HLA-DQ8 transgenic NOD mice. 61 57
15489956 2004
2
Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs. 57 61
12485471 2002
3
Epidermal transglutaminase (TGase 3) is the autoantigen of dermatitis herpetiformis. 61 57
11901200 2002
4
Incidence of familial dermatitis herpetiformis. 61 57
8731659 1996
5
Dapsone-induced hepatic complications: it's time to think beyond methemoglobinemia. 61
31631707 2021
6
Recalcitrant dermatitis herpetiformis treated successfully with sulfasalazine. 61
33226639 2021
7
Gluten and skin disease beyond dermatitis herpetiformis: a review. 61
32810304 2021
8
Subepithelial Autoimmune Bullous Dermatoses Disease Activity Assessment and Therapy. 61
33684494 2021
9
Subepidermal Autoimmune Blistering Dermatoses: Clinical Features and Diagnosis. 61
33684496 2021
10
Granular Deposits of IgA in the Skin of Coeliac Patients Without Dermatitis Herpetiformis: A Prospective Multicentric Analysis. 61
33426564 2021
11
Coeliac disease presenting atypically: A much wider spectrum. 61
33573512 2021
12
A Case of Bullous Rash Apparently Triggered by Meningococcal and Rotavirus Vaccines in an Infant: Focus on Infantile Bullous Pemphigoid. 61
33672215 2021
13
Research Supporting a Pilot Study of Metronomic Dapsone during Glioblastoma Chemoirradiation. 61
33669324 2021
14
Development of Dermatitis Herpetiformis in Chronic Plaque Psoriasis. 61
33790758 2021
15
A novel quantitative ELISA as accurate and reproducible tool to detect epidermal transglutaminase antibodies in patients with Dermatitis Herpetiformis. 61
33463795 2021
16
Dermatitis Herpetiformis: An Update on Diagnosis and Management. 61
33432477 2021
17
Atopic Dermatitis Is Associated with Dermatitis Herpetiformis and Celiac Disease in Children. 61
32540248 2021
18
EBV-positive Mucocutaneous Ulcer With Small Lymphocytic Infiltration Mimicking Nonspecific Ulceration. 61
33739792 2021
19
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes. 61
33446885 2021
20
Determinants and Trends of Adherence to a Gluten-Free Diet in Adult Celiac Patients on a Long-Term Follow-Up (2000-2020). 61
33338656 2020
21
T-Cell Response in Dermatitis Herpetiformis: May Epidermal Transglutaminase Play a Role in Predicting Clinical Relapse? 61
33307102 2020
22
Prevalence of Dermatitis Herpetiformis Within the iCureCeliac Patient-Powered Research Network-Patient Characteristics and Dietary Counseling. 61
33026427 2020
23
Free perforation of primary small bowel lymphoma in a patient with celiac sprue and dermatitis herpetiformis. 61
33107962 2020
24
Risk of Skin Disorders in Patients with Celiac Disease: A Population-Based Cohort Study. 61
33144153 2020
25
Mast cells and thymic stromal lymphopoietin (TSLP) expression positively correlates with pruritus intensity in dermatitis herpetiformis. 61
33021479 2020
26
The skin doesn't lie: a case of dermatitis herpetiformis in the setting of refractory coeliac disease. 61
33016667 2020
27
Acral petechial eruptions without gastrointestinal symptoms: Three cases of dermatitis herpetiformis. 61
32923570 2020
28
Gliadin-Induced Ex Vivo T-Cell Response in Dermatitis Herpetiformis: A Predictor of Clinical Relapse on Gluten Challenge? 61
32035923 2020
29
TG6 Auto-Antibodies in Dermatitis Herpetiformis. 61
32967363 2020
30
An updated overview of spectrum of gluten-related disorders: clinical and diagnostic aspects. 61
32762724 2020
31
Update on the use of dapsone in dermatology. 61
31909480 2020
32
Overall and Cause-Specific Mortality in Adult Celiac Disease and Dermatitis Herpetiformis Diagnosed in the 21st Century. 61
32618663 2020
33
Mechanisms of skin autoimmunity: Cellular and soluble immune components of the skin. 61
32631499 2020
34
[Modern diagnostics of autoimmune bullous diseases]. 61
32542511 2020
35
Acral Purpura in Dermatitis Herpetiformis. 61
32267467 2020
36
Pitfalls in the Diagnosis of Coeliac Disease and Gluten-Related Disorders. 61
32517378 2020
37
The Long-Term Safety and Quality of Life Effects of Oats in Dermatitis Herpetiformis. 61
32290504 2020
38
Deciphering crucial genes in coeliac disease by bioinformatics analysis. 61
31809599 2020
39
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
40
Intestinal TG3- and TG2-Specific Plasma Cell Responses in Dermatitis Herpetiformis Patients Undergoing a Gluten Challenge. 61
32069794 2020
41
Current Concepts of Dermatitis Herpetiformis. 61
32039457 2020
42
Autoantibodies Against the Immunodominant Bullous Pemphigoid Epitopes Are Rare in Patients With Dermatitis Herpetiformis and Coeliac Disease. 61
33072118 2020
43
Comment on "Dermatitis herpetiformis in an African woman", the importance of direct immunofluorescence assay. 61
32952840 2020
44
Putative Abscopal Effect in Three Patients Treated by Combined Radiotherapy and Modulated Electrohyperthermia. 61
32211319 2020
45
Consensus on the Clinical Approach to Moderate-to-Severe Atopic Dermatitis in Spain: A Delphi Survey. 61
32318104 2020
46
An update on direct immunofluorescence for diagnosing dermatitis herpetiformis. 61
31997990 2019
47
Dermatitis herpetiformis. 61
31093998 2019
48
Gluten Challenge Induces Skin and Small Bowel Relapse in Long-Term Gluten-Free Diet-Treated Dermatitis Herpetiformis. 61
30998982 2019
49
Bullous Diseases in Children: A Review of Clinical Features and Treatment Options. 61
31506891 2019
50
Gender-Related Differences in Celiac Patients at Diagnosis. 61
31785504 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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