MCID: IPX001
MIFTS: 32

Ipex Syndrome malady

Genetic diseases (common), Gastrointestinal diseases, Immune diseases categories

Aliases & Classifications for Ipex Syndrome

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Sources:
19GeneReviews, 20GeneTests, 43Novoseek, 60UMLS
See all sources

Ipex Syndrome, Aliases & Descriptions:

Name: Ipex Syndrome 19
Immunodeficiency 19 43
X-Linked Syndrome; X-Linked Autoimmunity-Allergic Dysregulation Syndrome 19
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 60
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 60
; X-Linked Syndrome of Polyendocrinopathy 19
 
Immunologic Deficiency Syndromes 60
Polyendocrinopathy,enteropathy 19
Immune Dysfunction,diarrhea 19
Xlaad 19
Xpid 19
Ipex 20


Classifications:



Summaries for Ipex Syndrome

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MalaCards based summary: Ipex Syndrome, also known as immunodeficiency, is related to omenn syndrome and food allergy. An important gene associated with Ipex Syndrome is FOXP3 (forkhead box P3). The drugs immunoglobulins and cytomegalovirus immune globulin and the compound cyclosporin a have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related mouse phenotype no phenotypic analysis.

GeneReviews summary for ipex

Related Diseases for Ipex Syndrome

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Diseases related to Ipex Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 1196)
idRelated DiseaseScoreTop Affiliating Genes
1omenn syndrome30.9IGHE
2food allergy30.0FOXP3, IGHE
3dermatitis29.9FOXP3, IGHE
4eosinophilia29.8FOXP3, IGHE
5asthma29.7IGHE, FOXP3
6allergic rhinitis29.1FOXP3, IGHE
7acquired immunodeficiency syndrome11.2
8severe combined immunodeficiency11.1
9common variable immunodeficiency11.1
10hiv-110.9
11adenosine deaminase deficiency10.7
12tuberculosis10.7
13hepatitis c10.6
14retinitis10.6
15sarcoma10.6
16leukemia10.6
17immunodysregulation, polyendocrinopathy, and enteropathy, x-linked10.6
18primary immunodeficiency disease10.6
19hepatitis c virus10.6
20cytomegalovirus retinitis10.5
21neuronitis10.5
22gamma chain deficiency10.5
23candidiasis10.5
24pneumonia10.5
25hepatitis b10.5
26encephalitis10.5
27syphilis10.5
28microsporidiosis10.5
29neurosyphilis10.5
30meningitis10.5
31lipodystrophy10.4
32cerebritis10.4
33histoplasmosis10.4
34ectodermal dysplasia10.4
35herpes simplex10.4
36endotheliitis10.4
37hepatic venoocclusive disease with immunodeficiency10.4
38progressive multifocal leukoencephalopathy10.4
39dementia10.4
40thyroiditis10.4
41toxoplasmosis10.4
42kaposi sarcoma10.4
43t-cell immunodeficiency, congenital alopecia, and nail dystrophy10.4
44plasmablastic lymphoma10.4
45oral candidiasis10.4
46molluscum contagiosum10.4
47achondroplasia and severe combined immunodeficiency10.4
48severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.4
49porphyria cutanea tarda10.4
50porphyria10.4

Graphical network of the top 20 diseases related to Ipex Syndrome:



Diseases related to ipex syndrome

Symptoms for Ipex Syndrome

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Drugs & Therapeutics for Ipex Syndrome

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Drug clinical trials:

Search ClinicalTrials for Ipex Syndrome

Search NIH Clinical Center for Ipex Syndrome

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Ipex Syndrome

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Genetic tests related to Ipex Syndrome:

id Genetic test Affiliating Genes
1 Ipex Syndrome20 FOXP3

Anatomical Context for Ipex Syndrome

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MalaCards organs/tissues related to Ipex Syndrome:

31
T cells, Bone marrow, Bone

Animal Models for Ipex Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ipex Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FOXP3, IGHE

Publications for Ipex Syndrome

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Articles related to Ipex Syndrome:

(show all 36)
idTitleAuthorsYear
1
Familial IPEX syndrome: Different glomerulopathy in two siblings. (25712815)
2015
2
Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. (25463430)
2015
3
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. (25187107)
2014
4
Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome. (24727448)
2014
5
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? (24628744)
2014
6
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy. (24982679)
2014
7
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. (24224516)
2014
8
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. (24250806)
2013
9
IPEX Syndrome, FOXP3 and Cancer. (25844400)
2013
10
Intestinal dysfunction in APECED syndrome could mimic IPEX syndrome. (23287803)
2013
11
IPEX syndrome with membrano-proliferative nephrotic syndrome. (23549728)
2013
12
Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (22132891)
2012
13
Girl with IPEX syndrome with low expression of Foxp3]. (23291488)
2012
14
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (22581967)
2012
15
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. (21400500)
2011
16
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (21979562)
2011
17
Autoimmune hepatitis type 2 in a child with IPEX syndrome. (21629128)
2011
18
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. (20650610)
2010
19
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. (20842625)
2010
20
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. (20709600)
2010
21
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. (19478054)
2009
22
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. (19846862)
2009
23
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (19471859)
2009
24
Severe gastritis in an insulin-dependent child with an IPEX syndrome. (19633572)
2009
25
Digestive histopathological presentation of IPEX syndrome. (18820676)
2009
26
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. (17828748)
2008
27
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (16990602)
2007
28
A potential screening tool for IPEX syndrome. (17378693)
2007
29
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. (17224384)
2007
30
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. (17484868)
2007
31
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. (17115064)
2007
32
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. (17629750)
2007
33
Clinical and molecular findings in IPEX syndrome. (16371377)
2006
34
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (12161590)
2002
35
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. (11685453)
2001
36
IPEX Syndrome (20301297)
1993

Variations for Ipex Syndrome

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Clinvar genetic disease variations for Ipex Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXP3NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs28935477GRCh37Chr X, 49107902: 49107902
2FOXP3NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys)single nucleotide variantPathogenicrs122467169GRCh37Chr X, 49108159: 49108159
3FOXP3NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr)single nucleotide variantPathogenicrs122467170GRCh37Chr X, 49107941: 49107941
4FOXP3NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del)deletionPathogenicrs122467171GRCh37Chr X, 49111954: 49111956
5FOXP3NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala)indelPathogenicrs122467172GRCh37Chr X, 49108153: 49108154
6FOXP3NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu)single nucleotide variantPathogenicrs122467173GRCh37Chr X, 49109661: 49109661
7FOXP3NM_014009.3(FOXP3): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs122467174GRCh37Chr X, 49114960: 49114960
8FOXP3NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu)single nucleotide variantPathogenicrs122467175GRCh37Chr X, 49108172: 49108172

Expression for genes affiliated with Ipex Syndrome

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Search GEO for disease gene expression data for Ipex Syndrome.

Pathways for genes affiliated with Ipex Syndrome

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Compounds for genes affiliated with Ipex Syndrome

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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Ipex Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cyclosporin a43 28 5911.1FOXP3, IGHE

GO Terms for genes affiliated with Ipex Syndrome

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Products for genes affiliated with Ipex Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ipex Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet