DMSD
MCID: IMM024
MIFTS: 30

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

Gastrointestinal, Endocrine, Blood, Immune categories

Summaries for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy, is related to ipex syndrome 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, bone marrow and thyroid.

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:47 304790

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

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal, Endocrine, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
x-linked immune dysregulation - polyendocrinopathy - enteropathy:
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 43
enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy 43
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 47
diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked 43
x-linked immune dysregulation - polyendocrinopathy - enteropathy 49
autoimmunity-immunodeficiency syndrome x-linked 43
diabetes mellitus, insulin-dependent 61
iddm secretory diarrhea syndrome 43
autoimmune enteropathy type 1 49
ipex 49
dmsd 43


External Ids:

OMIM47 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1ipex syndrome10.8
2type 1 diabetes10.6
3type 1 diabetes mellitus10.5
4diabetes mellitus, insulin-dependent, 1910.4
5diabetes mellitus, insulin-dependent, 710.4
6diabetes mellitus, insulin-dependent, 1310.4
7diabetes mellitus, insulin-dependent, 2210.4
8diabetes mellitus, insulin-dependent, 2310.4
9diabetes mellitus, insulin-dependent, 1810.4
10diabetes mellitus, insulin-dependent, neonatal10.4
11diabetes mellitus, insulin-dependent, 1510.4
12diabetes mellitus, insulin-dependent, 2110.4
13diabetes mellitus, insulin-dependent, 510.4
14diabetes mellitus, insulin-dependent, 810.4
15diabetes, mellitus, insulin-dependent 1010.4
16diabetes mellitus, insulin-dependent, 2410.4
17diabetes mellitus, insulin-dependent, 1710.4
18diabetes mellitus, insulin-dependent, 210.4
19diabetes mellitus, insulin-dependent, 410.4
20diabetes mellitus, insulin-dependent, 2010.4
21diabetes mellitus, insulin-dependent, 1110.4
22diabetes mellitus, insulin-dependent, 310.4
23diabetes mellitus, insulin-dependent, 610.4
24diabetes mellitus, insulin-dependent, x-linked10.4
25n syndrome10.3
26diabetic ketoacidosis10.2
27brittle diabetes10.2
28maturity-onset diabetes of the young, type 110.2
29epiphyseal dysplasia multiple with early-onset diabetes mellitus10.2
30diabetes mellitus, noninsulin-dependent10.2
31autoimmune enteropathy10.2
32neonatal diabetes mellitus10.0INS
33infertility10.0INS
34diarrhea10.0INS
35lymphopenia10.0FOXP3
36norwegian scabies10.0
37hepatitis c10.0
38autoimmune hepatitis10.0
39hepatitis a10.0
40char syndrome10.0
41engraftment syndrome10.0
42immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.0
43scalp syndrome10.0
44hematopoietic stem cell transplantation10.0
45eosinophilia10.0FOXP3
46connective tissue disease10.0FOXP3
47hypersensitivity reaction type ii disease10.0FOXP3, INS

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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47OMIM
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Clinical features from OMIM:

304790

Clinical synopsis from OMIM:

304790

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

Anatomical Context for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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33MalaCards
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MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

33
Skin, Bone marrow, Thyroid

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

Sources:
28inGenious Targeting Laboratory
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Publications for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

Genetic Variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

63
id Symbol AA change Variation 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

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

Sources:
45Novoseek
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Compounds related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rapamycin459.1INS, FOXP3

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

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

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Sources for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet