Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Synonyms: CD55 deficiency · CHAPLE syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | CD55 deficiency · CHAPLE syndrome |
| fr | Syndrome d'hyperactivation du complément-thrombose-entéropathie avec perte de protéines | Déficit en CD55 · Syndrome CHAPLE |
| de | Komplement-Hyperaktivierung-angiopathische Thrombose-Eiweißverlustenteropathie-Syndrom | CD55-Defizienz · CHAPLE-Syndrom |
| es | Síndrome de hiperactivación del complemento-trombosis angiopática-enteropatía perdedora de proteínas | Deficiencia de CD55 · Síndrome CHAPLE |
| it | Sindrome da iperattivazione del complemento, trombosi angiopatica, enteropatia con perdita di proteine | Deficit di CD55 · Sindrome CHAPLE |
| nl | Hyperactivatie van complementsysteem - angiopathische trombose - proteïneverliezende enteropathie-syndroom | CD55-deficiëntie · CHAPLE-syndroom |
| pt | Síndrome de hiperactivação do complemento-trombose angiopática-enteropatia com perda de proteína | Deficiência de CD55 · Síndrome CHAPLE |
| pl | Zespół hiperaktywacji dopełniacza, zakrzepicy angiopatycznej i enteropatii z utratą białka | Niedobór dopełniacza D55 · Zespół CHAPLE |
| cs | Syndrom zahrnující hyperaktivaci komplementu, angiopatickou trombózu, ztrátu bílkovin a enteropatii | = en |
| uk | Синдром гіперактивації комплементу - ангіопатичний тромбоз - ентеропатія з втратою білка | Дефіцит CD55 · Синдром CHAPLE |
| zh | 补体过度激活-血管病性血栓形成-蛋白丢失性肠病综合征 | CHAPLE syndrome |
| tr | Tamamlayıcı hiperaktivasyon-anjiyopatik tromboz-protein kaybeden enteropati sendromu | CD55 eksikliği · CHAPLE sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226300 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | DA96.Y | NTBT | attributed | validated |
| UMLS | C4538570 | E | validated | |
| MedDRA | 10085728 | 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 (2):
- ORPHA:36204Intestinal lymphangiectasia
rare gastroenterological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD55 | Disease-causing germline mutation(s) in | Assessed | HGNC:2665 | ENSG00000196352 | 125240 | 1q32.2 | CD55 molecule (Cromer blood group) | 30565236[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30565236[PMID]_28657829[PMID]_28657861[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/566175
- This record as JSON: /data/d/566175.json