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 hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and thyroid.

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 34.5 FOXP3 AIRE
2 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.6 CYP17A1 CYP11A1 AIRE
3 autoimmune polyendocrine syndrome type 1 32.4 FOXP3 AIRE
4 chronic mucocutaneous candidiasis 32.4 FOXP3 AIRE
5 autoimmune polyendocrine syndrome 32.3 FOXP3 CYP11A1 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 30.1 FOXP3 AIRE
9 hashimoto thyroiditis 29.7 FOXP3 AIRE
10 hypoadrenocorticism, familial 29.3 CYP17A1 CYP11A1 AIRE
11 premature ovarian failure 1 29.1 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 10.3
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 hypogonadotropism 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 hemolytic anemia 10.2
37 pernicious anemia 10.2
38 hypereosinophilic syndrome 10.2
39 alopecia universalis congenita 10.1
40 diabetes mellitus, insulin-dependent 10.1
41 myasthenia gravis 10.1
42 exanthem 10.1
43 t cell deficiency 10.1
44 ectodermal dysplasia 10.1
45 gastritis 10.1
46 hypopituitarism 10.1
47 autoimmune disease of endocrine system 10.1 FOXP3 AIRE
48 neuromuscular junction disease 10.1 FOXP3 AIRE
49 autoimmune disease of gastrointestinal tract 10.1 FOXP3 AIRE
50 celiac disease 1 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 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
2
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
5 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
6
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
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
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
18 Methylprednisolone Acetate Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Anti-Bacterial Agents Phase 2
21 Antifungal Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Antiparasitic Agents Phase 2
24 Antiprotozoal Agents Phase 2
25 Liposomal amphotericin B Phase 2
26 Autoantibodies Phase 2
27 Antibodies, Monoclonal Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29 Antitubercular Agents Phase 2
30 Dermatologic Agents Phase 2
31 Cyclosporins Phase 2
32 Antiviral Agents Phase 2
33 Antimetabolites Phase 2
34 Antirheumatic Agents Phase 2
35 Immunosuppressive Agents Phase 2
36 Antibodies Phase 2
37 Calcineurin Inhibitors Phase 2
38 Immunoglobulins Phase 2
39 Vidarabine Phosphate Phase 2
40 Immunologic Factors Phase 2
41 Alkylating Agents Phase 2
42
Epinephrine Approved, Vet_approved 51-43-4 5816
43
Racepinephrine Approved 329-65-7 838
44 Epinephryl borate
45 Tin Fluorides

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 Active, not 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:

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

Publications for Polyendocrinopathy

Articles related to Polyendocrinopathy:

(show top 50) (show all 702)
# Title Authors PMID Year
1
Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia! 61
31955955 2020
2
Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study. 61
31601134 2020
3
NHC-gold compounds mediate immune suppression through induction of AHR-TGFβ1 signalling in vitro and in scurfy mice. 61
31909202 2020
4
NHC-gold compounds mediate immune suppression through induction of AHR-TGFβ1 signalling in vitro and in scurfy mice. 61
31925300 2020
5
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1. 61
31905445 2019
6
[Erythroderma revealing IPEX syndrome]. 61
31230776 2019
7
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients. 61
31874182 2019
8
Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder. 61
31805313 2019
9
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. 61
31788263 2019
10
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. 61
31322807 2019
11
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
12
Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism. 61
31705387 2019
13
Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome. 61
30813833 2019
14
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 61
31588815 2019
15
Autoimmune Polyendocrinopathy. 61
31127843 2019
16
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing? 61
31483759 2019
17
Infertility and pregnancy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: More than just primary ovarian failure? 61
31297911 2019
18
Type I Diabetes Is The Main Cost Driver In Autoimmune Polyendocrinopathy. 61
31529067 2019
19
Fecal microbiota transplantation for refractory diarrhea in immunocompromised diseases: a pediatric case report. 61
31462301 2019
20
[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes]. 61
31269558 2019
21
Mechanisms of human FoxP3+ Treg cell development and function in health and disease. 61
30864147 2019
22
Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases. 61
30677128 2019
23
Profiling Autoantibodies against Salivary Proteins in Sicca Conditions. 61
31095438 2019
24
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. 61
31167928 2019
25
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
26
Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. 61
30951839 2019
27
Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review. 61
30697957 2019
28
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. 61
30170123 2019
29
AIRE expression controls the peripheral selection of autoreactive B cells. 61
30979797 2019
30
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. 61
30415406 2019
31
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells. 61
30709738 2019
32
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome. 61
30639036 2019
33
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 61
30565240 2019
34
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene. 61
30805323 2019
35
Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED. 61
30608907 2019
36
Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED. 61
30339230 2019
37
Unusual and early onset IPEX syndrome: a case report. 61
31990476 2019
38
IPEX syndrome: an easily-missed diagnosis of a life threatening condition. 61
31916722 2019
39
Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation. 61
31956453 2019
40
[Endocrine complications in primary immunodeficiency diseases]. 61
30525884 2018
41
Advances in site-specific gene editing for primary immune deficiencies. 61
30299399 2018
42
Role of human forkhead box P3 in early thymic maturation and peripheral T-cell homeostasis. 61
29705245 2018
43
Regulatory T-cell dysfunction induces autoantibodies to bullous pemphigoid antigens in mice and human subjects. 61
29704593 2018
44
Regulatory T-cell deficiency and autoimmune skin disease: Beyond the scurfy mouse and immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 61
30196121 2018
45
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study. 61
30385752 2018
46
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. 61
29789121 2018
47
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
48
Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease. 61
29959280 2018
49
A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata. 61
30003128 2018
50
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. 61
29437776 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 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 9.16 CYP17A1 CYP11A1
2 iron ion binding GO:0005506 8.96 CYP17A1 CYP11A1
3 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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