Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

Preferred Label : Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy;

Symbol : CHAPLE;

CISMeF acronym : CHAPLE;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD55 antigen gene (CD55, 125240.0004);

Laboratory abnormalities : Hypoalbuminemia; Hypoproteinemia; Micronutrient deficiencies;

Prefixed ID : #226300;

Détails

Origin ID

226300;

UMLS CUI

C4538570;

Automatic exact mappings (from CISMeF team)
- CD55 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- CHAPLE syndrome [MedDRA Preferred Term]
- Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder) [SNOMED CT concept]
- Exudative enteropathy (disorder) [SNOMED CT concept]
- Primary intestinal lymphangiectasia [ORDO Disease]
- Protein losing enteropathy [PASCAL descriptor]
- Protein-Losing enteropathies [MeSH concept]
- Protein-losing enteropathy [ICD-11 Subcategory]
- Protein-losing enteropathy [HPO term]
- Protein-losing enteropathy (disorder) [SNOMED CT concept]
- Waldmann disease [PASCAL descriptor]
- Waldmann disease [MeSH concept]
- protein losing enteropathy [Disease (Nov.)]
- protein-losing enteropathies [Artificial nutrition thesaurus concept]
- protein-losing enteropathies [MeSH Descriptor]
- protein-losing enteropathy [DO Concept]
- protein-losing enteropathy [SNOMED Notion]
- waldmann disease [MeSH Supplementary Concept]
DO Cross reference
- protein-losing enteropathy [DO Concept]
Genes related to phenotype
- Cd55 antigen [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormal intestine morphology [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Budd-Chiari syndrome [HPO term]
- Clubbing [HPO term]
- Clubbing of fingers [HPO term]
- Decreased circulating antibody level [HPO term]
- Diarrhea [HPO term]
- Edema [HPO term]
- Enteropathy [HPO term]
- Generalized edema [HPO term]
- Growth delay [HPO term]
- Hepatic vein thrombosis [HPO term]
- Hepatomegaly [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoproteinemia [HPO term]
- Intestinal obstruction [HPO term]
- Iron deficiency anemia [HPO term]
- Malabsorption [HPO term]
- Pneumonia [HPO term]
- Pulmonary embolism [HPO term]
- Recurrent infections [HPO term]
- Thrombocytosis [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHAPLE syndrome [MedDRA Preferred Term]
- Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder) [SNOMED CT concept]
- Exudative enteropathy (disorder) [SNOMED CT concept]
- Protein losing enteropathy [PASCAL descriptor]
- Protein-Losing enteropathies [MeSH concept]
- Protein-losing enteropathy [HPO term]
- Protein-losing enteropathy (disorder) [SNOMED CT concept]
- protein losing enteropathy [Disease (Nov.)]
- protein-losing enteropathies [MeSH Descriptor]
- protein-losing enteropathy [SNOMED Notion]
- protein-losing enteropathy [DO Concept]
Validated automatic mappings to NTBT
- protein losing enteropathy [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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