DMSD
MCID: IMM024
MIFTS: 33

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

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases categories
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Summaries for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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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 autoimmune enteropathy. An important gene associated with Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked is FOXP3 (forkhead box P3). The drugs insulin and insulin, aspart, human have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin 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:47 304790

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

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43NIH Rare Diseases, 62UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 43
enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy 43
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome 49
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 47
diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked 43
polyendocrinopathy, immune dysfunction and diarrhea x-linked 43
x-linked autoimmunity-allergic dysregulation syndrome 43
autoimmunity-immunodeficiency syndrome x-linked 43
diabetes mellitus, insulin-dependent 62
iddm secretory diarrhea syndrome 43
autoimmune enteropathy type 1 49
ipex syndrome 43
xlaad 43
xpid 43
dmsd 43
ipex 49


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 14)
idRelated DiseaseScoreTop Affiliating Genes
1ipex syndrome10.8
2autoimmune enteropathy10.1
3autoimmune hepatitis10.1
4norwegian scabies10.1
5dermatitis10.1
6food allergy10.1
7gastritis10.1
8hepatitis10.1
9nephrotic syndrome10.1
10proteinuria10.1
11scabies10.1
12immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.1
13hematopoietic stem cell transplantation10.1
14lymphopenia10.0

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



Diseases related to immunodysregulation, polyendocrinopathy and enteropathy x-linked

Symptoms for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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47OMIM
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Symptoms by clinical synopsis from OMIM:

304790

Clinical features from OMIM:

304790

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

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-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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33MalaCards
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MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

33
Thyroid, Skin, 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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Variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked:

64
id Symbol AA change Variation ID SNP ID
1FOXP3p.Phe371CysVAR_011331
2FOXP3p.Ala384ThrVAR_011332
3FOXP3p.Arg397TrpVAR_011333rs28935477
4FOXP3p.Ile363ValVAR_023569

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

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1FOXP3NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs28935477GRCh37Chr X, 49107902: 49107902
2FOXP3FOXP3, 20-BP DEL, 3-BP INS, NT1290indelPathogenic
3FOXP3NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys)single nucleotide variantPathogenicrs122467169GRCh37Chr X, 49108159: 49108159
4FOXP3NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr)single nucleotide variantPathogenicrs122467170GRCh37Chr X, 49107941: 49107941
5FOXP3FOXP3, 2-BP DEL, 1481CTdeletionPathogenic
6FOXP3FOXP3, IVS9DS, A-G, +4single nucleotide variantPathogenic
7FOXP3NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del)deletionPathogenicrs122467171GRCh37Chr X, 49111954: 49111956
8FOXP3FOXP3, 1-BP DELdeletionPathogenic
9FOXP3NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala)indelPathogenicrs122467172GRCh37Chr X, 49108153: 49108154
10FOXP3NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu)single nucleotide variantPathogenicrs122467173GRCh37Chr X, 49109661: 49109661
11FOXP3FOXP3, 543C-Tsingle nucleotide variantPathogenic
12FOXP3NM_014009.3(FOXP3): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs122467174GRCh37Chr X, 49114960: 49114960
13FOXP3NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu)single nucleotide variantPathogenicrs122467175GRCh37Chr X, 49108172: 49108172

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

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2BioGPS, 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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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet