MCID: PLY188
MIFTS: 35

Polyendocrinopathy

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Polyendocrinopathy

Summaries for Polyendocrinopathy

MalaCards based summary : Polyendocrinopathy is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and autoimmune polyendocrine syndrome. An important gene associated with Polyendocrinopathy is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Corticotropin-releasing hormone signaling pathway. The drugs Prednisone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include t cells, thymus and skin.

Related Diseases for Polyendocrinopathy

Diseases in the Polyendocrinopathy family:

Autoimmune Polyendocrinopathy Type 4 Autoimmune Polyendocrinopathy Type 3

Diseases related to Polyendocrinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 34.1 FOXP3 AIRE
2 autoimmune polyendocrine syndrome 32.3 FOXP3 CYP11A1 AIRE
3 autoimmune polyendocrine syndrome type 1 32.3 CYP21A2 AIRE
4 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 31.8 CYP21A2 CYP17A1 CYP11A1 AIRE
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.9 FOXP3 AIRE
6 acute adrenal insufficiency 29.8 CYP21A2 CYP11A1
7 hypoadrenocorticism, familial 29.6 CYP21A2 CYP11A1 AIRE
8 autoimmune polyendocrinopathy type 3 12.3
9 genetic polyendocrinopathy 12.2
10 autoimmune polyendocrinopathy type 4 12.2
11 dermatitis, atopic 11.6
12 familiar chronic mucocutaneous candidiasis 11.6
13 autoimmune polyendocrine syndrome, type ii 11.5
14 candidiasis 10.9
15 hypoparathyroidism 10.7
16 chronic mucocutaneous candidiasis 10.6
17 autoimmune disease 10.6
18 autosomal recessive disease 10.6
19 alopecia 10.5
20 hypothyroidism 10.4
21 diarrhea 10.3
22 oral candidiasis 10.3
23 thyroiditis 10.3
24 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
25 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
26 autoimmune hepatitis 10.3
27 dermatitis 10.3
28 hypogonadism 10.3
29 hypogonadotropism 10.3
30 keratoconjunctivitis 10.3
31 autoimmune enteropathy 10.3
32 severe immune-mediated enteropathy 10.3
33 keratitis, hereditary 10.2
34 keratopathy 10.2
35 hemolytic anemia 10.2
36 hematopoietic stem cell transplantation 10.2
37 pernicious anemia 10.2
38 alopecia areata 10.2
39 hypereosinophilic syndrome 10.2
40 alopecia universalis congenita 10.1
41 diabetes mellitus, insulin-dependent 10.1
42 myasthenia gravis 10.1
43 exanthem 10.1
44 t cell deficiency 10.1
45 ectodermal dysplasia 10.1
46 gastritis 10.1
47 hypopituitarism 10.1
48 autoimmune peripheral neuropathy 10.1 FOXP3 AIRE
49 autoimmune addison disease 10.1 CYP21A2 AIRE
50 hashimoto thyroiditis 10.0

Graphical network of the top 20 diseases related to Polyendocrinopathy:



Diseases related to Polyendocrinopathy

Symptoms & Phenotypes for Polyendocrinopathy

Drugs & Therapeutics for Polyendocrinopathy

Drugs for Polyendocrinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
2
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
13
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
14
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
15
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
16
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
17 Prednisolone acetate Phase 2
18 Methylprednisolone Acetate Phase 2
19 Liposomal amphotericin B Phase 2
20 Antiparasitic Agents Phase 2
21 Autoantibodies Phase 2
22 Antiprotozoal Agents Phase 2
23 Antifungal Agents Phase 2
24 Anti-Bacterial Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Anti-Infective Agents Phase 2
27 Cyclosporins Phase 2
28 Vidarabine Phosphate Phase 2
29 Antineoplastic Agents, Immunological Phase 2
30 Immunologic Factors Phase 2
31 Immunosuppressive Agents Phase 2
32 Antibodies Phase 2
33 Immunoglobulins Phase 2
34 Dermatologic Agents Phase 2
35 Antitubercular Agents Phase 2
36 Antiviral Agents Phase 2
37 Antibodies, Monoclonal Phase 2
38 Antimetabolites, Antineoplastic Phase 2
39 Antimetabolites Phase 2
40 Antirheumatic Agents Phase 2
41 Calcineurin Inhibitors Phase 2
42 Alkylating Agents Phase 2
43 Antineoplastic Agents, Alkylating Phase 2
44
Epinephrine Approved, Vet_approved 51-43-4 5816
45
Racepinephrine Approved 329-65-7 838
46 Tin Fluorides
47 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
2 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Recruiting NCT02629419 Phase 2 Amphotericin B
3 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
4 Allogeneic Hematopoietic Cell Transplantation for Patients With Treatment-Refractory Crohn's Disease: A Phase 2 Study Active, not recruiting NCT01570348 Phase 2 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Mycophenolic Acid;Tacrolimus
5 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
6 The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections Recruiting NCT01386437
7 Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome Active, not recruiting NCT03751683
8 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056

Search NIH Clinical Center for Polyendocrinopathy

Genetic Tests for Polyendocrinopathy

Anatomical Context for Polyendocrinopathy

MalaCards organs/tissues related to Polyendocrinopathy:

41
T Cells, Thymus, Skin, Bone, B Cells, Thyroid, Monocytes

Publications for Polyendocrinopathy

Articles related to Polyendocrinopathy:

(show top 50) (show all 684)
# Title Authors PMID Year
1
Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases. 38
30677128 2019
2
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. 38
31322807 2019
3
Mechanisms of human FoxP3+ Treg cell development and function in health and disease. 38
30864147 2019
4
[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes]. 38
31269558 2019
5
Infertility and pregnancy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: More than just primary ovarian failure? 38
31297911 2019
6
Profiling Autoantibodies against Salivary Proteins in Sicca Conditions. 38
31095438 2019
7
[Erythroderma revealing IPEX syndrome]. 38
31230776 2019
8
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. 38
31167928 2019
9
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 38
31124053 2019
10
Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. 38
30951839 2019
11
Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review. 38
30697957 2019
12
Autoimmune Polyendocrinopathy. 38
31127843 2019
13
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. 38
30170123 2019
14
AIRE expression controls the peripheral selection of autoreactive B cells. 38
30979797 2019
15
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. 38
30415406 2019
16
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells. 38
30709738 2019
17
Recurrent Non-immune Fetal Hydrops Associated With IPEX Syndrome. 38
30813833 2019
18
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome. 38
30639036 2019
19
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 38
30565240 2019
20
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene. 38
30805323 2019
21
Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED. 38
30339230 2019
22
Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED. 38
30608907 2019
23
Regulatory T-cell deficiency and autoimmune skin disease: Beyond the scurfy mouse and immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 38
30196121 2018
24
Role of human forkhead box P3 in early thymic maturation and peripheral T-cell homeostasis. 38
29705245 2018
25
Regulatory T-cell dysfunction induces autoantibodies to bullous pemphigoid antigens in mice and human subjects. 38
29704593 2018
26
[Endocrine complications in primary immunodeficiency diseases]. 38
30525884 2018
27
Advances in site-specific gene editing for primary immune deficiencies. 38
30299399 2018
28
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study. 38
30385752 2018
29
Aire is not essential for regulating neuroinflammatory disease in mice transgenic for human autoimmune-diseases associated MHC class II genes HLA-DR2b and HLA-DR4. 38
29789121 2018
30
Hypoparathyroidism in children: a study of eight cases. 38
30430523 2018
31
Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease. 38
29959280 2018
32
A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata. 38
30003128 2018
33
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. 38
29437776 2018
34
[Rheumatological manifestations in primary immunodeficiency diseases]. 38
29860881 2018
35
A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. 38
29907148 2018
36
Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α. 38
29985347 2018
37
[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases]. 38
29896738 2018
38
IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment. 38
29567430 2018
39
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 38
29193502 2018
40
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. 38
26918796 2018
41
In vitro maturation of oocytes from excised ovarian tissue in a patient with autoimmune ovarian insufficiency possibly associated with Epstein-Barr virus infection. 38
29618356 2018
42
Beyond APECED: An update on the role of the autoimmune regulator gene (AIRE) in physiology and disease. 38
29427825 2018
43
Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation. 38
28960390 2018
44
Integrity of IKK/NF-κB Shields Thymic Stroma That Suppresses Susceptibility to Autoimmunity, Fungal Infection, and Carcinogenesis. 38
29522649 2018
45
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). 38
29129473 2018
46
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. 38
29574468 2018
47
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. 38
29241729 2018
48
Update on Aire and thymic negative selection. 38
28871661 2018
49
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. 38
30510552 2018
50
Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1. 38
30177913 2018

Variations for Polyendocrinopathy

Expression for Polyendocrinopathy

Search GEO for disease gene expression data for Polyendocrinopathy.

Pathways for Polyendocrinopathy

GO Terms for Polyendocrinopathy

Biological processes related to Polyendocrinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.54 CYP21A2 CYP17A1 CYP11A1
2 steroid metabolic process GO:0008202 9.43 CYP21A2 CYP17A1 CYP11A1
3 steroid biosynthetic process GO:0006694 9.33 CYP21A2 CYP17A1 CYP11A1
4 cytokine production GO:0001816 9.32 FOXP3 CD226
5 sterol metabolic process GO:0016125 8.96 CYP21A2 CYP11A1
6 glucocorticoid biosynthetic process GO:0006704 8.8 CYP21A2 CYP17A1 CYP11A1

Molecular functions related to Polyendocrinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.72 FOXP3 CYP21A2 CYP17A1 CYP11A1 AIRE
2 oxidoreductase activity GO:0016491 9.43 CYP21A2 CYP17A1 CYP11A1
3 iron ion binding GO:0005506 9.33 CYP21A2 CYP17A1 CYP11A1
4 heme binding GO:0020037 9.13 CYP21A2 CYP17A1 CYP11A1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.8 CYP21A2 CYP17A1 CYP11A1

Sources for Polyendocrinopathy

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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