STAT3-related early-onset multisystem autoimmune disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STAT3-related early-onset multisystem autoimmune disease | |
| fr | Maladie auto-immune multisystémique précoce associée à STAT3 | |
| de | STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit | |
| es | Enfermedad autoinmune multisistémica de inicio precoz asociada a STAT3 | |
| it | Malattia autoimmune multisistemica ad esordio precoce correlata a STAT3 | |
| nl | STAT3-gerelateerde multisystemische auto-immuunziekte met vroege aanvang | |
| pt | Doença autoimune multissitémica com início precoce STAT3-relacionada | |
| pl | Wieloustrojowa choroba autoimmunologiczna o wczesnym początku zależna od STAT3 | |
| cs | STAT3-vázané autoimunitní multisystémové onemocnění s časným nástupem | |
| uk | STAT3-повязане раннє мультисистемне аутоімунне захворювання з раннім початком | |
| zh | STAT3相关性早发多系统自身免疫性疾病 | |
| tr | STAT3-ilişkili erken başlangıçlı multisistem otoimmün hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615952 | E | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.22 | NTBT | attributed | validated |
| MONDO | 0014414 | E | validated | |
| UMLS | C4014795 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:98375Autoimmune hemolytic anemia
rare hematological diseases - ORPHA:71203Autoimmune thrombocytopenia
rare hematological 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:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11364 | ENSG00000168610 | 102582 | 17q21.2 | signal transducer and activator of transcription 3 | 25038750[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 26574998[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26574998[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438159
- This record as JSON: /data/d/438159.json