MCID: PLY188
MIFTS: 32

Polyendocrinopathy

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Polyendocrinopathy

MalaCards integrated aliases for Polyendocrinopathy:

Name: Polyendocrinopathy 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E31.0 E31.1 E31.8 more
Orphanet 58 ORPHA101956

Summaries for Polyendocrinopathy

MalaCards based summary : Polyendocrinopathy is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia. An important gene associated with Polyendocrinopathy is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Metabolism of steroid hormones and Steroid hormone biosynthesis. The drugs Methylprednisolone and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include t cells, thymus and bone.

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 232)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 34.5 FOXP3 AIRE
2 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.7 CYP17A1 CYP11A1 AIRE
3 autoimmune polyendocrine syndrome type 1 32.4 FOXP3 AIRE
4 autoimmune polyendocrine syndrome 32.3 FOXP3 CYP11A1 AIRE
5 chronic mucocutaneous candidiasis 32.3 FOXP3 AIRE
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.1 FOXP3 AIRE
7 autoimmune hepatitis 30.6 FOXP3 AIRE
8 alopecia areata 30.0 FOXP3 AIRE
9 hashimoto thyroiditis 29.5 FOXP3 AIRE
10 hypoadrenocorticism, familial 29.3 CYP17A1 CYP11A1 AIRE
11 premature ovarian failure 1 28.7 CYP17A1 CYP11A1 AIRE
12 autoimmune polyendocrinopathy type 3 12.3
13 genetic polyendocrinopathy 12.2
14 autoimmune polyendocrinopathy type 4 12.2
15 dermatitis, atopic 11.6
16 autoimmune polyendocrine syndrome, type ii 11.5
17 candidiasis 10.9
18 hypoparathyroidism 10.7
19 autoimmune disease 10.6
20 autosomal recessive disease 10.6
21 alopecia 10.5
22 hypothyroidism 10.5
23 diarrhea 10.4
24 oral candidiasis 10.4
25 thyroiditis 10.4
26 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
27 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
28 dermatitis 10.3
29 hypogonadism 10.3
30 hemolytic anemia 10.3
31 keratoconjunctivitis 10.3
32 autoimmune enteropathy 10.3
33 severe immune-mediated enteropathy 10.3
34 keratitis, hereditary 10.2
35 keratopathy 10.2
36 pernicious anemia 10.2
37 hypereosinophilic syndrome 10.2
38 diabetes mellitus, type i 10.2
39 alopecia universalis congenita 10.1
40 myasthenia gravis 10.1
41 exanthem 10.1
42 t cell deficiency 10.1
43 ectodermal dysplasia 10.1
44 gastritis 10.1
45 hypopituitarism 10.1
46 autoimmune gastritis 10.1 FOXP3 AIRE
47 autoimmune disease of skin and connective tissue 10.1 FOXP3 AIRE
48 anemia, autoimmune hemolytic 10.1
49 celiac disease 1 10.1
50 interstitial nephritis 10.1

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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
2
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
3
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
15
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
16
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
17 Methylprednisolone Acetate Phase 2
18 Cyclosporins Phase 2
19 Immunoglobulins Phase 2
20 Antibodies Phase 2
21 Antibodies, Monoclonal Phase 2
22 Immunoglobulins, Intravenous Phase 2
23 Dermatologic Agents Phase 2
24 Antineoplastic Agents, Immunological Phase 2
25 Antifungal Agents Phase 2
26 Antiparasitic Agents Phase 2
27 Amebicides Phase 2
28 Antiprotozoal Agents Phase 2
29 Liposomal amphotericin B Phase 2
30 Autoantibodies Phase 2
31 Anti-Bacterial Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Anti-Infective Agents Phase 2
34 Antitubercular Agents Phase 2
35 Immunosuppressive Agents Phase 2
36 Immunologic Factors Phase 2
37 Calcineurin Inhibitors Phase 2
38 Antirheumatic Agents Phase 2
39 Antimetabolites Phase 2
40 Alkylating Agents Phase 2
41
Epinephrine Approved, Vet_approved 51-43-4 5816
42
Racepinephrine Approved 329-65-7 838
43 Tin Fluorides
44 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 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® Completed NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
3 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 Active, not recruiting NCT02629419 Phase 2 Amphotericin B
4 Allogeneic Hematopoietic Cell Transplantation for Patients With Treatment-Refractory Crohn's Disease: A Phase 2 Study Terminated 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:

40
T Cells, Thymus, Bone, Skin, B Cells, Thyroid, Monocytes

Publications for Polyendocrinopathy

Articles related to Polyendocrinopathy:

(show top 50) (show all 716)
# Title Authors PMID Year
1
Chromogranin Serves as Novel Biomarker of Endocrine and Gastric Autoimmunity. 61
32436949 2020
2
APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data from a Large Predominantly American Cohort. 61
32557834 2020
3
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review. 61
32234571 2020
4
Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections. 61
32185376 2020
5
Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome. 61
32428713 2020
6
Infliximab induces clinical resolution of sacroiliitis that coincides with increased circulating FOXP3+ T cells in a patient with IPEX syndrome. 61
32438064 2020
7
CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells. 61
32494707 2020
8
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report. 61
32518791 2020
9
A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians. 61
32358377 2020
10
Type I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy. 61
31529067 2020
11
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients. 61
31874182 2020
12
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 61
31588815 2020
13
Type 2 immunity in the skin and lungs. 61
32319104 2020
14
Chronic cutaneous candidiasis in children: should we stop there? Report of two cases associated with auto-immune polyendocrinopathy syndrome type I. 61
32188450 2020
15
Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder. 61
31805313 2020
16
Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study. 61
31601134 2020
17
Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism. 61
31705387 2020
18
Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia! 61
31955955 2020
19
NHC-gold compounds mediate immune suppression through induction of AHR-TGFβ1 signalling in vitro and in scurfy mice. 61
31925300 2020
20
NHC-gold compounds mediate immune suppression through induction of AHR-TGFβ1 signalling in vitro and in scurfy mice. 61
31909202 2020
21
Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations. 61
32210917 2020
22
Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 61
32081609 2020
23
IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity. 61
32477345 2020
24
[Erythroderma revealing IPEX syndrome]. 61
31230776 2019
25
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1. 61
31905445 2019
26
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. 61
31322807 2019
27
Successful Salvage Haploidentical Alpha-Beta T Cell-Depleted Stem Cell Transplantation After Busulfan-Based Myeloablation in a Patient With IPEX Syndrome: A Case Report. 61
31611124 2019
28
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. 61
31788263 2019
29
Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome. 61
30813833 2019
30
Autoimmune Polyendocrinopathy. 61
31127843 2019
31
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing? 61
31483759 2019
32
Infertility and pregnancy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: More than just primary ovarian failure? 61
31297911 2019
33
Fecal microbiota transplantation for refractory diarrhea in immunocompromised diseases: a pediatric case report. 61
31462301 2019
34
[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes]. 61
31269558 2019
35
Mechanisms of human FoxP3+ Treg cell development and function in health and disease. 61
30864147 2019
36
Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases. 61
30677128 2019
37
Profiling Autoantibodies against Salivary Proteins in Sicca Conditions. 61
31095438 2019
38
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
39
Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. 61
30951839 2019
40
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. 61
31167928 2019
41
Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review. 61
30697957 2019
42
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. 61
30170123 2019
43
AIRE expression controls the peripheral selection of autoreactive B cells. 61
30979797 2019
44
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. 61
30415406 2019
45
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells. 61
30709738 2019
46
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome. 61
30639036 2019
47
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 61
30565240 2019
48
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene. 61
30805323 2019
49
Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED. 61
30608907 2019
50
Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED. 61
30339230 2019

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 steroid metabolic process GO:0008202 9.26 CYP17A1 CYP11A1
2 steroid biosynthetic process GO:0006694 9.16 CYP17A1 CYP11A1
3 cytokine production GO:0001816 8.96 FOXP3 CD226
4 glucocorticoid biosynthetic process GO:0006704 8.62 CYP17A1 CYP11A1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.26 CYP17A1 CYP11A1
2 iron ion binding GO:0005506 9.16 CYP17A1 CYP11A1
3 monooxygenase activity GO:0004497 8.96 CYP17A1 CYP11A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.62 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 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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