ORPHA:391487
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | |
| fr | Syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques associé à STAT1 | |
| de | STAT1-assoziierte autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom | |
| es | Síndrome de enteropatía autoinmune y endocrinopatía-susceptibilidad a infecciones crónicas asociado a STAT1 | |
| it | Sindrome enteropatia ed endocrinopatia autoimmuni-predisposizione alle infezioni croniche correlata a STAT1 | |
| nl | STAT1-gerelateerde auto-immune enteropathie en endocrinopathie - susceptibiliteit voor chronische infecties-syndroom | |
| pt | Síndrome de enteropatia e endocrinopatia autoimune-suscetibilidade a infeções crónicas STAT1-relacionada | |
| pl | Zespół enteropatii autoimmunologicznej i endokrynopatii związanej ze STAT1 | |
| cs | Syndrom zahrnující autoimunitní enteropatii a endokrinopatii a náchylnost k chronickým infekcím | |
| uk | Синдром STAT1-повязаної аутоімунної ентеропатії та ендокринопатії-схильності до хронічних інфекцій | |
| zh | 自身免疫性肠病和内分泌疾病-慢性感染易感综合征 | |
| tr | Otoimmün enteropati ve endokrinopati-kronik enfeksiyon sendromuna yatkınlık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614162 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| MONDO | 0013599 | E | validated | |
| UMLS | C5925149 | E | validated | |
| GARD | 12314 | 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 (7):
- ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:101956Polyendocrinopathy
rare endocrine diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11362 | ENSG00000115415 | 600555 | 2q32.2 | signal transducer and activator of transcription 1 | 23534974[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23534974[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_23534974[PMID] |
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
47 annotations · validated 2016-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0001510 | Growth delay | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0002110 | Bronchiectasis | |
| HP:0012163 | Carotid artery dilatation | |
| HP:0010976 | Decreased total B cell count | |
| HP:0000823 | Delayed puberty | |
| HP:0002014 | Diarrhea | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0004387 | Enterocolitis | |
| HP:0040160 | Generalized osteoporosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002958 | Immune dysregulation | |
| HP:0002721 | Immunodeficiency | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0001888 | Lymphopenia | |
| HP:0000938 | Osteopenia | |
| HP:0000832 | Primary hypothyroidism | |
| HP:0005353 | Recurrent herpes | |
| HP:0002719 | Recurrent infections | |
| HP:0001920 | Renal artery stenosis | |
| HP:0100817 | Renovascular hypertension | |
| HP:0100646 | Thyroiditis | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0011473 | Villous atrophy | |
| Occasional (29-5%) | ||
| HP:0030355 | Abnormal serum interferon-gamma level | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0001635 | Congestive heart failure | |
| HP:0011459 | Esophageal carcinoma | |
| HP:0012115 | Hepatitis | |
| HP:0002383 | Infectious encephalitis | |
| HP:0004966 | Medial calcification of large arteries | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0012182 | Oropharyngeal squamous cell carcinoma | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002724 | Recurrent Aspergillus infections | |
| HP:0001873 | Thrombocytopenia | |
| Excluded (0%) | ||
| HP:0005403 | Decreased total T cell count | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 21714643[PMID]_23541320[PMID]_23534974[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391487
- This record as JSON: /data/d/391487.json