MCID: IMM106
MIFTS: 37

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

MalaCards integrated aliases for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

Name: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 54 12 13
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 12 23 50 24 25
Ipex Syndrome 23 50 24 25
Xlaad 12 23 50 25
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 12 50 25
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 25 29 69
Autoimmunity-Immunodeficiency Syndrome, X-Linked 12 24 25
Ipex 12 56 71
Xpid 12 23 50
Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea 12 25
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 12 56
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 50 25
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked 12 25
Iddm-Secretory Diarrhea Syndrome 12 25
Autoimmune Enteropathy Type 1 12 56
Dmsd 12 50
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked Syndrome 24
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction and Diarrhea 24
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 25
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction,diarrhea 23
Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome 71
Immunodeficiency, Polyendocrinopathy,enteropathy X-Linked Syndrome 23
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 50
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked 25
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 50
Autoimmunity-Immunodeficiency Syndrome X-Linked 50
X-Linked Autoimmunity-Immunodeficiency Syndrome 71
Iddm Secretory Diarrhea Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

54
Miscellaneous:
variable severity
death usually occurs in infancy or childhood if untreated

Inheritance:
x-linked recessive


HPO:

32
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 304790
Disease Ontology 12 DOID:0090110
ICD10 33 E31.0
Orphanet 56 ORPHA37042
UMLS via Orphanet 70 C0342288
ICD10 via Orphanet 34 E31.0

Summaries for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

NIH Rare Diseases : 50 immunodysregulation polyendocrinopathy enteropathy x-linked (ipex) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. the symptoms of ipex syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). ipex syndrome is caused by changes (mutations) of the foxp3 gene, which is located on the x chromosome. there are several other diseases that are very similar to the ipex syndrome, caused by mutations in other genes and that affect both males and females. treatment of ipex syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. research is ongoing for new and safer treatments.   last updated: 2/20/2016

MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as x-linked autoimmunity-allergic dysregulation syndrome, is related to autoimmune enteropathy and hematopoietic stem cell transplantation, and has symptoms including diarrhea, thrombocytopenia and eosinophilia. An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3). The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and bone.

UniProtKB/Swiss-Prot : 71 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.

Genetics Home Reference : 25 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. IPEX syndrome can be life-threatening in early childhood.

OMIM : 54
IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by d'Hennezel et al., 2012). (304790)

Disease Ontology : 12 A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11.

GeneReviews: NBK1118

Related Diseases for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autoimmune enteropathy 11.2
2 hematopoietic stem cell transplantation 10.2
3 nephrotic syndrome 10.2
4 epidermolysis bullosa 10.2
5 epidermolysis bullosa acquisita 10.2
6 diarrhea 10.1

Graphical network of the top 20 diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:



Diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Symptoms & Phenotypes for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Symptoms via clinical synopsis from OMIM:

54

Hematology:
thrombocytopenia
eosinophilia
hemolytic anemia, autoimmune

Endocrine Features:
hypothyroidism
insulin-dependent diabetes mellitus (type i)

Abdomen- Gastroin testinal:
enteropathy
ileus
diarrhea, secretory
villous atrophy seen on biopsy
chronic inflammation

Immunology:
autoantibodies
immune dysregulation
increased serum ige
variable autoimmune disorders
lymphadenopathy may occur

Skin Nails & Hair- Skin:
eczema
atopy


Clinical features from OMIM:

304790

Human phenotypes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 thrombocytopenia 32 HP:0001873
3 eosinophilia 32 HP:0001880
4 lymphadenopathy 32 HP:0002716
5 villous atrophy 32 HP:0011473
6 hypothyroidism 32 HP:0000821
7 eczema 32 HP:0000964
8 immune dysregulation 32 HP:0002958
9 autoimmune hemolytic anemia 32 HP:0001890
10 ileus 32 HP:0002595
11 type i diabetes mellitus 32 HP:0100651

UMLS symptoms related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:


diarrhea

Drugs & Therapeutics for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Drugs for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Hydroxyurea Approved Phase 2 127-07-1 3657
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5 Thiotepa Approved Phase 2 52-24-4 5453
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
12
Vidarabine Approved Phase 2 24356-66-9 32326 21704
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
15
Treosulfan Investigational Phase 2 299-75-2 9296
16 Alkylating Agents Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Immunosuppressive Agents Phase 2
20 Nucleic Acid Synthesis Inhibitors Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antifungal Agents Phase 2
24 Anti-Infective Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Antirheumatic Agents Phase 2
27 Antiviral Agents Phase 2
28 Calcineurin Inhibitors Phase 2
29 Cyclosporins Phase 2
30 Dermatologic Agents Phase 2
31 Folic Acid Antagonists Phase 2
32 Vidarabine Phosphate Phase 2
33 Vitamin B Complex Phase 2
34 Antibodies Phase 2
35 Antibodies, Monoclonal Phase 2
36 Immunoglobulins Phase 2
37 Folate Nutraceutical Phase 2
38 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
3 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
4 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

Search NIH Clinical Center for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Genetic Tests for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Genetic tests related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

id Genetic test Affiliating Genes
1 Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 29
2 Ipex Syndrome 24 FOXP3

Anatomical Context for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

39
Skin, Thyroid, Bone, Bone Marrow

Publications for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

UniProtKB/Swiss-Prot genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

71
id Symbol AA change Variation ID SNP ID
1 FOXP3 p.Phe371Cys VAR_011331 rs122467169
2 FOXP3 p.Ala384Thr VAR_011332 rs122467170
3 FOXP3 p.Arg397Trp VAR_011333 rs28935477
4 FOXP3 p.Ile363Val VAR_023569
5 FOXP3 p.Leu242Pro VAR_078971
6 FOXP3 p.Phe324Leu VAR_078972 rs122467173
7 FOXP3 p.Pro339Ala VAR_078973
8 FOXP3 p.Arg347His VAR_078974
9 FOXP3 p.Phe373Ala VAR_078975 rs122467172
10 FOXP3 p.Phe374Cys VAR_078976

ClinVar genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXP3 NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs28935477 GRCh37 Chromosome X, 49107902: 49107902
2 FOXP3 FOXP3, 20-BP DEL, 3-BP INS, NT1290 indel Pathogenic
3 FOXP3 NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys) single nucleotide variant Pathogenic rs122467169 GRCh37 Chromosome X, 49108159: 49108159
4 FOXP3 NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr) single nucleotide variant Pathogenic rs122467170 GRCh37 Chromosome X, 49107941: 49107941
5 FOXP3 FOXP3, 2-BP DEL, 1481CT deletion Pathogenic
6 FOXP3 FOXP3, IVS9DS, A-G, +4 single nucleotide variant Pathogenic
7 FOXP3 NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del) deletion Pathogenic rs122467171 GRCh37 Chromosome X, 49111954: 49111956
8 FOXP3 FOXP3, 1-BP DEL deletion Pathogenic
9 FOXP3 NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala) indel Pathogenic rs122467172 GRCh37 Chromosome X, 49108153: 49108154
10 FOXP3 NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu) single nucleotide variant Pathogenic rs122467173 GRCh37 Chromosome X, 49109661: 49109661
11 FOXP3 FOXP3, 543C-T single nucleotide variant Pathogenic
12 FOXP3 NM_014009.3(FOXP3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs122467174 GRCh37 Chromosome X, 49114960: 49114960
13 FOXP3 NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu) single nucleotide variant Pathogenic rs122467175 GRCh37 Chromosome X, 49108172: 49108172
14 FOXP3 NM_014009.3(FOXP3): c.727delG (p.Glu243Serfs) deletion Pathogenic rs797045588 GRCh38 Chromosome X, 49255723: 49255723
15 FOXP3 NM_014009.3(FOXP3): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs782528935 GRCh38 Chromosome X, 49257447: 49257447
16 FOXP3 NM_014009.3(FOXP3): c.1015C> G (p.Pro339Ala) single nucleotide variant Likely pathogenic rs886044787 GRCh37 Chromosome X, 49109616: 49109616
17 FOXP3 NM_014009.3(FOXP3): c.1222G> A (p.Val408Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49107869: 49107869

Expression for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Search GEO for disease gene expression data for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked.

Pathways for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

GO Terms for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Sources for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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