MCID: IMM106
MIFTS: 30

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases categories

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

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

Name: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 46 9
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 21 22 61
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 21 61
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 42 48
Autoimmune Enteropathy Type 1 42 48
Ipex Syndrome 42 21
Ipex 42 48
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 42
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 42
 
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 42
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 42
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 42
Autoimmunity-Immunodeficiency Syndrome X-Linked 42
Iddm Secretory Diarrhea Syndrome 42
Xlaad 42
Dmsd 42
Xpid 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 304790
Orphanet48 37042
ICD10 via Orphanet26 E31.0

Summaries for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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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 insulin-dependent diabetes mellitus secretory diarrhea syndrome, is related to ipex syndrome and epidermolysis bullosa acquisita, and has symptoms including hypothyroidism, eczema and x-linked recessive inheritance. An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (forkhead box P3). 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.

OMIM:46 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,...

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1ipex syndrome10.9
2epidermolysis bullosa acquisita10.6
3epidermolysis bullosa10.6
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
14scabies10.1
15autoimmune enteropathy10.1
16proteinuria10.1
17diarrhea10.0
18lymphopenia10.0

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,...

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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,...

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Drug clinical trials:

Search ClinicalTrials for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

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

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

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Genetic tests related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

id Genetic test Affiliating Genes
1 Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome22

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

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

31
Thyroid, Skin, Bone marrow, Bone

Animal Models for Immunodysregulation, Polyendocrinopathy, and Enteropathy,... or affiliated genes

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Publications for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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

63
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:

5 (show all 13)
id Gene Variation 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,...

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

Pathways for genes affiliated with Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Compounds for genes affiliated with Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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GO Terms for genes affiliated with Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Sources for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet