MCID: IMM106
MIFTS: 44

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases

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

MalaCards integrated aliases for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

Name: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 57 12 13 40
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 57 12 24 53 25
Xlaad 57 12 24 53 25
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 57 12 53 25
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 25 29 6 73
Ipex Syndrome 24 53 25 37
Ipex 57 12 59 75
Xpid 57 12 24 53
Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea 57 12 25
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 57 53 25
Autoimmunity-Immunodeficiency Syndrome, X-Linked 57 12 25
Iddm-Secretory Diarrhea Syndrome 57 12 25
Dmsd 57 12 53
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 12 59
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked 12 25
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked 57 25
Autoimmune Enteropathy Type 1 12 59
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked, Formerly 57
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea 29
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 25
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome 29
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; Xpid 57
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction,diarrhea 24
Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome 75
Immunodeficiency, Polyendocrinopathy,enteropathy X-Linked Syndrome 24
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 53
X-Linked Autoimmunity-Allergic Dysregulation Syndrome; Xlaad 57
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 53
Autoimmunity-Immunodeficiency Syndrome X-Linked 53
X-Linked Autoimmunity-Immunodeficiency Syndrome 75
Iddm-Secretory Diarrhea Syndrome; Dmsd 57
Iddm Secretory Diarrhea Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
variable severity
death usually occurs in infancy or childhood if untreated

Inheritance:
x-linked recessive


HPO:

32
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 304790
Disease Ontology 12 DOID:0090110
ICD10 33 E31.0
Orphanet 59 ORPHA37042
ICD10 via Orphanet 34 E31.0
UMLS via Orphanet 74 C0342288
KEGG 37 H01971
UMLS 73 C0342288

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

NIH Rare Diseases : 53 Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts 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). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome. There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females. Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.  

MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as x-linked autoimmunity-allergic dysregulation syndrome, is related to autoimmune enteropathy and epidermolysis bullosa acquisita, and has symptoms including diarrhea An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Th17 cell differentiation and Inflammatory bowel disease (IBD). The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone, and related phenotypes are diabetes mellitus and hypothyroidism

Disease Ontology : 12 A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11.

Genetics Home Reference : 25 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. 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. IPEX syndrome can be life-threatening in early childhood.

OMIM : 57 IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by d'Hennezel et al., 2012). (304790)

UniProtKB/Swiss-Prot : 75 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.

Wikipedia : 76 IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to... more...

GeneReviews: NBK1118

Related Diseases for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 autoimmune enteropathy 11.3
2 epidermolysis bullosa acquisita 10.3
3 autoimmune disease 9.9
4 autoimmune disease 1 9.9
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
6 hematopoietic stem cell transplantation 9.9
7 lymphoma 9.9
8 gastritis 9.9
9 langerhans cell histiocytosis 9.7
10 lymphoproliferative syndrome 2 9.7
11 autoimmune hepatitis 9.7
12 hepatitis 9.7
13 nodal marginal zone lymphoma 9.7
14 nephrotic syndrome 9.7
15 diarrhea 9.7
16 norwegian scabies 9.7
17 dermatitis 9.7
18 food allergy 9.7
19 histiocytosis 9.7
20 lymphopenia 9.7
21 scabies 9.7
22 atrophic gastritis 9.7
23 autosomal recessive lymphoproliferative disease 9.7

Graphical network of the top 20 diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:



Diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Symptoms & Phenotypes for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
insulin-dependent diabetes mellitus (type i)

Abdomen Gastrointestinal:
ileus
enteropathy
diarrhea, secretory
villous atrophy seen on biopsy
chronic inflammation

Immunology:
immune dysregulation
increased serum ige
variable autoimmune disorders
lymphadenopathy may occur
autoantibodies

Hematology:
thrombocytopenia
eosinophilia
hemolytic anemia, autoimmune

Skin Nails Hair Skin:
eczema
atopy


Clinical features from OMIM:

304790

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 hypothyroidism 32 HP:0000821
3 eczema 32 HP:0000964
4 thrombocytopenia 32 HP:0001873
5 eosinophilia 32 HP:0001880
6 autoimmune hemolytic anemia 32 HP:0001890
7 diarrhea 32 HP:0002014
8 ileus 32 HP:0002595
9 lymphadenopathy 32 HP:0002716
10 immune dysregulation 32 HP:0002958
11 villous atrophy 32 HP:0011473
12 type i diabetes mellitus 32 HP:0100651

UMLS symptoms related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:


diarrhea

Drugs & Therapeutics for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Drugs for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Hydroxyurea Approved Phase 2 127-07-1 3657
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
12
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
15
Treosulfan Investigational Phase 2 299-75-2 9296
16 Alkylating Agents Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antineoplastic Agents, Alkylating Phase 2
20 Immunosuppressive Agents Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Anti-Bacterial Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Antifungal Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Antilymphocyte Serum Phase 2
27 Antirheumatic Agents Phase 2
28 Antitubercular Agents Phase 2
29 Antiviral Agents Phase 2
30 Calcineurin Inhibitors Phase 2
31 Cyclosporins Phase 2
32 Dermatologic Agents Phase 2
33 Folic Acid Antagonists Phase 2
34 Vidarabine Phosphate Phase 2
35 Vitamin B Complex Phase 2
36 Antibodies Phase 2
37 Antibodies, Monoclonal Phase 2
38 Immunoglobulins Phase 2
39 Folate Nutraceutical Phase 2
40 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
3 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
4 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

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

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

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

# Genetic test Affiliating Genes
1 Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 29 FOXP3
2 Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome 29
3 X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea 29

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

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

41
Skin, T Cells, Bone, Bone Marrow, Thyroid

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

Articles related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

(show all 44)
# Title Authors Year
1
A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. ( 29907148 )
2018
2
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. ( 29241729 )
2017
3
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome. ( 26748374 )
2016
4
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. ( 26918796 )
2016
5
Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. ( 25463430 )
2015
6
Familial IPEX syndrome: Different glomerulopathy in two siblings. ( 25712815 )
2015
7
Long-term disease course in a patient with severe neonatal IPEX syndrome. ( 25977242 )
2015
8
A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 26559324 )
2015
9
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops-Expanding the phenotype of IPEX syndrome. ( 26395338 )
2015
10
Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome. ( 24727448 )
2014
11
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. ( 25187107 )
2014
12
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? ( 24628744 )
2014
13
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. ( 24224516 )
2014
14
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy. ( 24982679 )
2014
15
IPEX syndrome with membrano-proliferative nephrotic syndrome. ( 23549728 )
2013
16
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. ( 24250806 )
2013
17
Intestinal dysfunction in APECED syndrome could mimic IPEX syndrome. ( 23287803 )
2013
18
IPEX Syndrome, FOXP3 and Cancer. ( 25844400 )
2013
19
Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 22132891 )
2012
20
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. ( 22581967 )
2012
21
[Girl with IPEX syndrome with low expression of Foxp3]. ( 23291488 )
2012
22
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. ( 21400500 )
2011
23
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 21979562 )
2011
24
Autoimmune hepatitis type 2 in a child with IPEX syndrome. ( 21629128 )
2011
25
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. ( 20842625 )
2010
26
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. ( 20650610 )
2010
27
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. ( 20709600 )
2010
28
Digestive histopathological presentation of IPEX syndrome. ( 18820676 )
2009
29
Severe gastritis in an insulin-dependent child with an IPEX syndrome. ( 19633572 )
2009
30
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 18795917 )
2009
31
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. ( 19846862 )
2009
32
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. ( 19478054 )
2009
33
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. ( 19471859 )
2009
34
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. ( 17828748 )
2008
35
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. ( 17629750 )
2007
36
A potential screening tool for IPEX syndrome. ( 17378693 )
2007
37
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. ( 16990602 )
2007
38
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. ( 17115064 )
2007
39
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. ( 17224384 )
2007
40
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. ( 17484868 )
2007
41
Clinical and molecular findings in IPEX syndrome. ( 16371377 )
2006
42
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. ( 12161590 )
2002
43
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA--&amp;gt;AAUGAA) leads to the IPEX syndrome. ( 11685453 )
2001
44
IPEX Syndrome ( 20301297 )
1993

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

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

75
# Symbol AA change Variation ID SNP ID
1 FOXP3 p.Phe371Cys VAR_011331 rs122467169
2 FOXP3 p.Ala384Thr VAR_011332 rs122467170
3 FOXP3 p.Arg397Trp VAR_011333 rs28935477
4 FOXP3 p.Ile363Val VAR_023569
5 FOXP3 p.Leu242Pro VAR_078971
6 FOXP3 p.Phe324Leu VAR_078972 rs122467173
7 FOXP3 p.Pro339Ala VAR_078973 rs886044787
8 FOXP3 p.Arg347His VAR_078974
9 FOXP3 p.Phe373Ala VAR_078975 rs122467172
10 FOXP3 p.Phe374Cys VAR_078976

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

6
(show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXP3 NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs28935477 GRCh37 Chromosome X, 49107902: 49107902
2 FOXP3 NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs28935477 GRCh38 Chromosome X, 49251441: 49251441
3 FOXP3 FOXP3, 20-BP DEL, 3-BP INS, NT1290 indel Pathogenic
4 FOXP3 NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys) single nucleotide variant Pathogenic rs122467169 GRCh37 Chromosome X, 49108159: 49108159
5 FOXP3 NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys) single nucleotide variant Pathogenic rs122467169 GRCh38 Chromosome X, 49251698: 49251698
6 FOXP3 NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr) single nucleotide variant Pathogenic rs122467170 GRCh37 Chromosome X, 49107941: 49107941
7 FOXP3 NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr) single nucleotide variant Pathogenic rs122467170 GRCh38 Chromosome X, 49251480: 49251480
8 FOXP3 FOXP3, 2-BP DEL, 1481CT deletion Pathogenic
9 FOXP3 FOXP3, IVS9DS, A-G, +4 single nucleotide variant Pathogenic
10 FOXP3 NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del) deletion Pathogenic rs122467171 GRCh37 Chromosome X, 49111954: 49111956
11 FOXP3 NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del) deletion Pathogenic rs122467171 GRCh38 Chromosome X, 49255493: 49255495
12 FOXP3 FOXP3, 1-BP DEL deletion Pathogenic
13 FOXP3 NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala) indel Pathogenic rs122467172 GRCh37 Chromosome X, 49108153: 49108154
14 FOXP3 NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala) indel Pathogenic rs122467172 GRCh38 Chromosome X, 49251692: 49251693
15 FOXP3 NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu) single nucleotide variant Pathogenic rs122467173 GRCh37 Chromosome X, 49109661: 49109661
16 FOXP3 NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu) single nucleotide variant Pathogenic rs122467173 GRCh38 Chromosome X, 49253200: 49253200
17 FOXP3 FOXP3, 543C-T single nucleotide variant Pathogenic
18 FOXP3 NM_014009.3(FOXP3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs122467174 GRCh37 Chromosome X, 49114960: 49114960
19 FOXP3 NM_014009.3(FOXP3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs122467174 GRCh38 Chromosome X, 49258503: 49258503
20 FOXP3 NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu) single nucleotide variant Pathogenic rs122467175 GRCh37 Chromosome X, 49108172: 49108172
21 FOXP3 NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu) single nucleotide variant Pathogenic rs122467175 GRCh38 Chromosome X, 49251711: 49251711
22 FOXP3 NM_014009.3(FOXP3): c.727delG (p.Glu243Serfs) deletion Pathogenic rs797045588 GRCh38 Chromosome X, 49255723: 49255723
23 FOXP3 NM_014009.3(FOXP3): c.727delG (p.Glu243Serfs) deletion Pathogenic rs797045588 GRCh37 Chromosome X, 49112184: 49112184
24 FOXP3 NM_014009.3(FOXP3): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs782528935 GRCh38 Chromosome X, 49257447: 49257447
25 FOXP3 NM_014009.3(FOXP3): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs782528935 GRCh37 Chromosome X, 49113904: 49113904
26 FOXP3 NM_014009.3(FOXP3): c.1015C> G (p.Pro339Ala) single nucleotide variant Likely pathogenic rs886044787 GRCh37 Chromosome X, 49109616: 49109616
27 FOXP3 NM_014009.3(FOXP3): c.1015C> G (p.Pro339Ala) single nucleotide variant Likely pathogenic rs886044787 GRCh38 Chromosome X, 49253155: 49253155
28 FOXP3 NM_014009.3(FOXP3): c.1222G> A (p.Val408Met) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 49251408: 49251408
29 FOXP3 NM_014009.3(FOXP3): c.1222G> A (p.Val408Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49107869: 49107869
30 FOXP3 NM_014009.3(FOXP3): c.984G> A (p.Met328Ile) single nucleotide variant Uncertain significance rs367860281 GRCh37 Chromosome X, 49109647: 49109647
31 FOXP3 NM_014009.3(FOXP3): c.984G> A (p.Met328Ile) single nucleotide variant Uncertain significance rs367860281 GRCh38 Chromosome X, 49253186: 49253186
32 FOXP3 NM_014009.3(FOXP3): c.1036A> G (p.Ile346Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49253134: 49253134
33 FOXP3 NM_014009.3(FOXP3): c.1036A> G (p.Ile346Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49109595: 49109595
34 FOXP3 NM_014009.3(FOXP3): c.112G> T (p.Ala38Ser) single nucleotide variant Uncertain significance rs782239006 GRCh37 Chromosome X, 49114851: 49114851
35 FOXP3 NM_014009.3(FOXP3): c.112G> T (p.Ala38Ser) single nucleotide variant Uncertain significance rs782239006 GRCh38 Chromosome X, 49258394: 49258394
36 FOXP3 NM_014009.3(FOXP3): c.773C> T (p.Ala258Val) single nucleotide variant Uncertain significance rs369698589 GRCh38 Chromosome X, 49255472: 49255472
37 FOXP3 NM_014009.3(FOXP3): c.773C> T (p.Ala258Val) single nucleotide variant Uncertain significance rs369698589 GRCh37 Chromosome X, 49111933: 49111933
38 FOXP3 NM_014009.3(FOXP3): c.1129C> G (p.His377Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49108142: 49108142
39 FOXP3 NM_014009.3(FOXP3): c.1129C> G (p.His377Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49251681: 49251681
40 FOXP3 NM_014009.3(FOXP3): c.486C> T (p.Ser162=) single nucleotide variant Likely benign GRCh38 Chromosome X, 49256981: 49256981
41 FOXP3 NM_014009.3(FOXP3): c.486C> T (p.Ser162=) single nucleotide variant Likely benign GRCh37 Chromosome X, 49113438: 49113438
42 FOXP3 NM_014009.3(FOXP3): c.30G> A (p.Ser10=) single nucleotide variant Likely benign rs142994383 GRCh38 Chromosome X, 49258476: 49258476
43 FOXP3 NM_014009.3(FOXP3): c.30G> A (p.Ser10=) single nucleotide variant Likely benign rs142994383 GRCh37 Chromosome X, 49114933: 49114933

Expression for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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

Pathways for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

Pathways related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to KEGG:

37
# Name Kegg Source Accession
1 Th17 cell differentiation hsa04659
2 Inflammatory bowel disease (IBD) hsa05321

GO Terms for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
40 LOVD
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46 MGI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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