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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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 based summary: Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked, also known as x-linked autoimmunity-allergic dysregulation syndrome, is related to ipex syndrome and immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome, and has symptoms including 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 marrow.

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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Sources:
42NIH Rare Diseases, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked, Aliases & Descriptions:

Name: Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 42
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 42 62
Ipex Syndrome 42 62
Xlaad 42 62
Ipex 48 62
Dmsd 42 62
Xpid 42 62
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 42
 
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 48
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 46
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 42
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 42
Autoimmunity-Immunodeficiency Syndrome X-Linked 42
Diabetes Mellitus, Insulin-Dependent 62
Iddm Secretory Diarrhea Syndrome 42
Autoimmune Enteropathy Type 1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ipex:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

OMIM46 304790
ICD10 via Orphanet26 E31.0

Related Diseases for Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked

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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 17)
idRelated DiseaseScoreTop Affiliating Genes
1ipex syndrome10.9
2immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.2
3autoimmune enteropathy10.1
4autoimmune hepatitis10.1
5hematopoietic stem cell transplantation10.1
6hepatitis10.1
7langerhans-cell histiocytosis10.1
8norwegian scabies10.1
9dermatitis10.1
10food allergy10.1
11gastritis10.1
12histiocytosis10.1
13nephrotic syndrome10.1
14proteinuria10.1
15scabies10.1
16diarrhea10.0
17lymphopenia10.0

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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Symptoms by clinical synopsis from OMIM:

304790

Clinical features from OMIM:

304790

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

(show all 11)
id Description Frequency HPO Source Accession
1 hypothyroidism HP:0000821
2 eczema HP:0000964
3 x-linked recessive inheritance HP:0001419
4 thrombocytopenia HP:0001873
5 autoimmune hemolytic anemia HP:0001890
6 diarrhea HP:0002014
7 ileus HP:0002595
8 lymphadenopathy HP:0002716
9 immune dysregulation HP:0002958
10 villous atrophy HP:0011473
11 type i diabetes mellitus HP:0100651

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

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

32
Thyroid, Skin, Bone marrow, Bone

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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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:

6 (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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet