ORPHA:37042
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Synonyms: Autoimmune enteropathy type 1 · IPEX
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | Autoimmune enteropathy type 1 · IPEX |
| fr | Syndrome de dérèglement immunitaire-polyendocrinopathie-entéropathie lié à l'X | Entéropathie auto-immune de type 1 · IPEX |
| de | Immundysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomales | Enteropathie, autoimmune, Typ 1 · IPEX |
| es | Síndrome de inmunodesregulación-poliendocrinopatía-enteropatía ligada al cromosoma X | Enteropatía autoinmune tipo 1 · IPEX |
| it | Sindrome disregolazione immunitaria-poliendocrinopatia-enteropatia legata all'X | Enteropatia autoimmune, tipo 1 · IPEX |
| nl | X-gebonden immuundisregulatie - polyendocrinopathie - enteropathie-syndroom | Auto-immune enteropathie type 1 · IPEX |
| pt | Síndrome de imunodesregulação-poliendocrinopatia-enteropatia ligada ao X | IPEX |
| pl | Zespół dysregulacja immunologiczna - poliendokrynopatia - enteropatia sprzężony z chromosomem X | Autoimmunologiczna enteropatia typu 1 · IPEX |
| cs | Syndrom zahrnující imunitní dysregulaci, polyendokrinopatii a enteropatii vázanou na chromozom X | Autoimunitní enteropatie, typ 1 · IPEX |
| uk | Х-зчеплений синдром імунної дисрегуляції-поліендокринопатії-ентеропатії | Аутоімунна ентеропатія типу 1 · IPEX |
| zh | x连锁多内分泌腺病肠病伴免疫失调综合征 | 自身免疫性肠病1型 |
| tr | Bağışıklık düzensizliği-poliendokrinopati-enteropati-X'e bağlı sendrom | IPEX · Otoimmün enteropati tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304790 | E | validated | |
| ICD-10 | E31.0 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | index | validated |
| MONDO | 0010580 | E | validated | |
| MeSH | C580192 | E | validated | |
| UMLS | C0342288 | E | validated | |
| GARD | 1850 | E | validated | |
| MedDRA | 10080631 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:101956Polyendocrinopathy
rare endocrine diseases - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6106 | ENSG00000049768 | 300292 | Xp11.23 | forkhead box P3 | 11137993[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 195 cases | Worldwide | Case(s) | Validated | 32234571[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
60 annotations · validated 2019-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| Frequent (79-30%) | ||
| HP:0003111 | Abnormal blood ion concentration | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0012393 | Allergy | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0007473 | Crusting erythematous dermatitis | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0031401 | Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | |
| HP:0005208 | Secretory diarrhea | |
| HP:0100646 | Thyroiditis | |
| HP:0100651 | Type I diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0004326 | Cachexia | |
| HP:0031085 | Decreased circulating prealbumin concentration | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012115 | Hepatitis | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0031104 | Insulin receptor antibody positivity | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0002024 | Malabsorption | |
| HP:0012578 | Membranous nephropathy | |
| HP:0008404 | Nail dystrophy | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001581 | Recurrent skin infections | |
| HP:0002098 | Respiratory distress | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0001025 | Urticaria | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001596 | Alopecia | |
| HP:0002583 | Colitis | |
| HP:0025156 | Dependency on intravenous nutrition | |
| HP:0005263 | Gastritis | |
| HP:0000836 | Hyperthyroidism | |
| HP:0002595 | Ileus | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001287 | Meningitis | |
| HP:0100614 | Myositis | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0002754 | Osteomyelitis | |
| HP:0002090 | Pneumonia | |
| HP:0100806 | Sepsis | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30805323[PMID]_24240290[PMID]_20301297[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/37042
- This record as JSON: /data/d/37042.json