DMSD
MCID: IMM024
MIFTS: 39

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

Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases categories

Summaries for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Immunodysregulation polyendocrinopathy enteropathy x-linked (ipex) syndrome is a condition that affects the immune system of a male baby 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).  some cases of ipex syndrome have been shown to be caused by a change (mutation) of the foxp3 gene, which is located on the x chromosome.  treatment of ipex syndrome consists of medications that limit immune system functioning; a bone marrow transplantation can cure some cases of this condition.  in a separate condition known as ipex-like syndrome, affected individuals may have symptoms similar to those of ipex syndrome but no mutation can be found in the foxp3 gene; both males and females have been diagnosed with ipex-like syndrome.  the cause of ipex-like syndrome has not yet been identified. last updated: 1/27/2012

MalaCards: Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked, also known as immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome, is related to lymphopenia and type 1 diabetes. An important gene associated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked is FOXP3 (forkhead box P3). The drugs insulin and insulin, aspart, human and the compound rapamycin have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and bone.

Genetics Home Reference:21 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. 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. Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood.

Description from OMIM:46 304790

Aliases & Classifications for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

immunodysregulation, polyendocrinopathy and enteropathy x-linked 42
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome 48
enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy 42
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 46
diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked 42
autoimmunity-immunodeficiency syndrome x-linked 42
diabetes mellitus, insulin-dependent 60
iddm secretory diarrhea syndrome 42
autoimmune enteropathy type 1 48
ipex 48
dmsd 42


External Ids:

OMIM46 304790
ICD10 via Orphanet26 E31.0

Related Diseases for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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17GeneCards, 18GeneDecks
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Diseases related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1lymphopenia29.9FOXP3
2type 1 diabetes10.9
3immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.9
4diabetes mellitus10.7
5ipex syndrome10.7
6type 1 diabetes mellitus10.5
7nephrotic syndrome10.5
8x-linked disease10.5
9wolfram syndrome10.4
10epiphyseal dysplasia multiple with early-onset diabetes mellitus10.4
11diabetes mellitus, insulin-dependent, 1910.4
12diabetes mellitus, insulin-dependent, 710.4
13diabetes mellitus, insulin-dependent, 1310.4
14diabetes mellitus, insulin-dependent, 2210.4
15diabetes mellitus, insulin-dependent, 2310.4
16diabetes mellitus, insulin-dependent, 1810.4
17diabetes mellitus, insulin-dependent, neonatal10.4
18diabetes mellitus, insulin-dependent, 1510.4
19diabetes mellitus, insulin-dependent, 2110.4
20diabetes mellitus, insulin-dependent, 510.4
21diabetes mellitus, insulin-dependent, 810.4
22diabetes, mellitus, insulin-dependent 1010.4
23diabetes mellitus, insulin-dependent, 2410.4
24diabetes mellitus, insulin-dependent, 1710.4
25diabetes mellitus, insulin-dependent, 210.4
26diabetes mellitus, insulin-dependent, 410.4
27diabetes mellitus, insulin-dependent, 2010.4
28diabetes mellitus, insulin-dependent, 1110.4
29diabetes mellitus, insulin-dependent, 310.4
30diabetes mellitus, insulin-dependent, 610.4
31diabetes mellitus, insulin-dependent, x-linked10.4
32diabetic ketoacidosis10.2
33obesity10.2
34brittle diabetes10.2
35pancreatic beta cell agenesis with neonatal diabetes mellitus10.2
36maturity-onset diabetes of the young, type 110.2
37rpl26-related diamond-blackfan anemia10.2
38fibrocalculous pancreatopathy10.2
39neonatal diabetes mellitus10.0INS
40infertility10.0INS
41diarrhea10.0INS
42eosinophilia10.0FOXP3
43connective tissue disease10.0FOXP3
44hypersensitivity reaction type ii disease10.0FOXP3, INS
45norwegian scabies9.9
46autoimmune hepatitis9.9
47hepatitis a9.9
48dermatitis9.9
49food allergy9.9
50gastritis9.9

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



Diseases related to immunodysregulation, polyendocrinopathy and enteropathy x-linked

Clinical Features for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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46OMIM
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Clinical features from OMIM:

304790

Clinical synopsis from OMIM:

304790

Drugs & Therapeutics for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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Anatomical Context for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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32MalaCards
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MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

32
Skin, Thyroid, Bone, Bone marrow

Animal Models for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked or affiliated genes

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Publications for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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Genetic Variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

62
id Symbol AA change Variation ID SNP ID
1FOXP3p.Phe371CysVAR_011331
2FOXP3p.Ala384ThrVAR_011332
3FOXP3p.Arg397TrpVAR_011333rs28935477
4FOXP3p.Ile363ValVAR_023569

Expression for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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

Pathways for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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Compounds for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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44Novoseek
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Compounds related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rapamycin449.1INS, FOXP3

GO Terms for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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Products for genes affiliated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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Sources for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet