ORPHA:90038
Shiga toxin-associated hemolytic uremic syndrome
Synonyms: D+ HUS · EHEC-HUS · Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli · Hemolytic uremic syndrome with diarrhea · STEC-HUS · Shiga-like toxin-associated HUS · Stx-HUS · Typical HUS · Typical hemolytic uremic syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by <i>Shigella dysentriae</i> type 1 or <i>E. Coli</i>.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Shiga toxin-associated hemolytic uremic syndrome | D+ HUS · EHEC-HUS · Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli · Hemolytic uremic syndrome with diarrhea · STEC-HUS · Shiga-like toxin-associated HUS · Stx-HUS · Typical HUS · Typical hemolytic uremic syndrome |
| fr | Syndrome hémolytique et urémique à Escherichia coli producteur de Shiga-toxines | D+ HUS · SHU D+ · SHU associé aux toxines Shiga-like · SHU typique · SHU à EHEC · SHU à STEC · Syndrome hémolytique et urémique post-diarrhéique · Syndrome hémolytique et urémique typique |
| de | Shiga-ähnliches Toxin-assoziiertes Hämolytisch-urämisches Syndrom | D+ HUS · EHEC-HUS · Hämolytisch-urämisches Syndrom assoziiert mit Shiga toxin-produzierenden Escherichia coli · Hämolytisch-urämisches Syndrom mit Diarrhoe · Hämolytisch-urämisches Syndrom, typisches · STEC-HUS · Shiga-ähnliches Toxin-assoziierte HUS · Sxt-HUS · Typisches HUS |
| es | Síndrome hemolítico urémico asociado a la toxina Shiga | SHU D+ · SHU asociado a toxina similar a Shiga · SHU típico · Síndrome hemolítico urémico asociado a Escherichia coli productor de toxina Shiga · Síndrome hemolítico urémico con diarrea · Síndrome hemolítico urémico típico |
| it | Sindrome emolitico-uremica tipica | D+HUS · HUS associata alla tossina Shiga-simile · HUS tipica · Sindrome emolitico-uremica con diarrea · Sxt-HUS |
| nl | Shigatoxine-geassocieerd hemolytisch-uremisch syndroom | D+ HUS · EHEC-HUS · Hemolytisch-uremisch syndroom geassocieerd met Shigatoxine-producerende Escherichia coli · Hemolytisch-uremisch syndroom met diarree · STEC-HUS · Shiga-achtig toxine-geassocieerd HUS · Sxt-HUS · Typisch HUS · Typisch hemolytisch-uremisch syndroom |
| pt | Síndrome hemolítico-urémico associado a Shiga-toxina | Síndrome hemolítico-urémico típico |
| pl | Typowy zespół hemolityczno-mocznicowy | D+HUS · HUS związany z toksyną podobną do toksyny Shiga · Sxt-HUS · Typowy HUS · Zespół hemolityczno-mocznicowy z biegunką |
| cs | Typický hemolytickouremický syndrom | D+ HUS · HUS vázaný na toxin podobný shiga · Sxt-HUS · Typický HUS · Hemolytickouremický syndrom s průjmem |
| uk | Гемолітико-уремічний синдром, асоційований з токсином Шига | D+ HUS · EHEC-HUS · Гемолітико-уремічний синдром, асоційований з Escherichia coli, що продукує токсин Шига · Гемолітико-уремічний синдром з діареєю · Шига-подібний токсин, асоційований з СЧВ · STEC-HUS · Stx-HUS · Типовий гемолітико-уремічний синдром · Типовий HUS |
| zh | 志贺毒素相关性溶血性尿毒症综合征 | 产志贺毒素大肠杆菌相关性溶血性尿毒症综合征 |
| tr | Shiga toksin-ilişkili hemolitik üremik sendrom | D + HUS · Stx-HUS · EHEC-HUS · STEC-HUS · Tipik HUS · Shiga-benzeri toksin ile ilişkili HUS · Tipik hemolitik üremik sendrom · İshal ile seyreden hemolitik üremik sendrom · Shiga toksin üreten Escherichia coli ile ilişkili hemolitik üremik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235400 | NTBT | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A21.Y | NTBT | attributed | validated |
| ICD-11 | XN108 | NTBT | attributed | validated |
| MONDO | 0019536 | E | validated | |
| UMLS | C1268936 | 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 (1):
- ORPHA:544482Infection-related hemolytic uremic syndrome
rare renal diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 2.1 / 100 000 | United States | Value and class | Validated | ISBN:0123864577[OTHER] |
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
33 annotations · validated 2019-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001919 | Acute kidney injury | |
| HP:0100519 | Anuria | |
| HP:0002014 | Diarrhea | |
| HP:0005423 | Dysfunctional alternative complement pathway | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0001873 | Thrombocytopenia | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0100282 | Acute colitis | |
| HP:0025085 | Bloody diarrhea | |
| HP:0001944 | Dehydration | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0003641 | Hemoglobinuria | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0031368 | Intestinal perforation | |
| HP:0000737 | Irritability | |
| HP:0001923 | Reticulocytosis | |
| HP:0001981 | Schistocytosis | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0012851 | Colonic stenosis | |
| HP:0001259 | Coma | |
| HP:0002576 | Intussusception | |
| HP:0001658 | Myocardial infarction | |
| HP:0001733 | Pancreatitis | |
| HP:0002586 | Peritonitis | |
| HP:0002035 | Rectal prolapse | |
Annotation source: 29961127[PMID]_30561409[PMID]_27768015[PMID]_22802583[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90038
- This record as JSON: /data/d/90038.json