IPEX
MCID: IMM106
MIFTS: 30

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (IPEX) malady

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

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

Aliases & Descriptions for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

Name: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 54 13
Ipex 56 66
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 50
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 56
Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome 66
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 50
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 50
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 69
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 50
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 50
Autoimmunity-Immunodeficiency Syndrome X-Linked 50
X-Linked Autoimmunity-Immunodeficiency Syndrome 66
Iddm Secretory Diarrhea Syndrome 50
Autoimmune Enteropathy Type 1 56
Ipex Syndrome 50
Xlaad 50
Xpid 50
Dmsd 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;

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
Orphanet 56 ORPHA37042
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 ipex, is related to ipex syndrome and immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome, and has symptoms including diarrhea, hypothyroidism and type i diabetes mellitus. An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3). The drugs Acetaminophen and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and skin.

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to... (304790) more...

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:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 ipex syndrome 12.0
2 immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome 11.6
3 autoimmune enteropathy 10.8
4 dermatitis 9.7
5 food allergy 9.7
6 histiocytosis 9.7
7 gastritis 9.7
8 scabies 9.7
9 autoimmune hepatitis 9.7
10 hematopoietic stem cell transplantation 9.7
11 hepatitis 9.7
12 lymphoma 9.7
13 nephrotic syndrome 9.7
14 norwegian scabies 9.7

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 by clinical synopsis from OMIM:

304790

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 hypothyroidism 32 HP:0000821
3 type i diabetes mellitus 32 HP:0100651
4 thrombocytopenia 32 HP:0001873
5 ileus 32 HP:0002595
6 eczema 32 HP:0000964
7 lymphadenopathy 32 HP:0002716
8 eosinophilia 32 HP:0001880
9 autoimmune hemolytic anemia 32 HP:0001890
10 immune dysregulation 32 HP:0002958
11 villous atrophy 32 HP:0011473

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 top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 2 103-90-2 1983
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
4
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Hydroxyurea Approved Phase 2 127-07-1 3657
7
Melphalan Approved Phase 2 148-82-3 4053 460612
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Promethazine Approved Phase 2 60-87-7 4927
11
Thiotepa Approved Phase 2 52-24-4 5453
12
Vidarabine Approved Phase 2 24356-66-9 32326 21704
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
15
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
22 Alkylating Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Anti-Infective Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 Antiviral Agents Phase 2
30 Epinephryl borate Phase 2
31 Immunosuppressive Agents Phase 2
32 Methylprednisolone acetate Phase 2
33 Methylprednisolone Hemisuccinate Phase 2
34 Nucleic Acid Synthesis Inhibitors Phase 2
35 Prednisolone acetate Phase 2
36 Prednisolone hemisuccinate Phase 2
37 Prednisolone phosphate Phase 2
38 Racepinephrine Phase 2
39 Antifungal Agents Phase 2
40 Antilymphocyte Serum Phase 2
41 Antirheumatic Agents Phase 2
42 Calcineurin Inhibitors Phase 2
43 Dermatologic Agents Phase 2
44 Folic Acid Antagonists Phase 2
45
Treosulfan Phase 2 299-75-2 9296
46 Vidarabine Phosphate Phase 2
47 Vitamin B Complex Phase 2
48 Antibodies Phase 2
49 Antibodies, Monoclonal Phase 2
50 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
2 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
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
4 Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC Recruiting NCT02356653 Early Phase 1

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

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

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

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

39
Thyroid, Bone, Skin, 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:

66
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

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

6 (show all 16)
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

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....