Diarrhea 10, protein-losing enteropathy type

Preferred Label : Diarrhea 10, protein-losing enteropathy type;

Symbol : DIAR10;

CISMeF acronym : DIAR10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypoalbuminemia; Low total protein; Hypertriglyceridemia; Hyponatremia; Hypomagnesemia; Hypocalcemia; Elevated gamma-glutamyl transferase;

Prefixed ID : #618183;

Details

Origin ID

618183;

UMLS CUI

C4748579;

Currated CISMeF NLP mapping
- Congenital chronic diarrhea with protein-losing enteropathy [ORDO Disease]
- Congenital chronic diarrhea with protein-losing enteropathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Plasmalemma vesicle-associated protein [OMIM gene]
HPO term(s)
- Anasarca [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating antibody level [HPO term]
- Hematochezia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypocalcemia [HPO term]
- Hypomagnesemia [HPO term]
- Hyponatremia [HPO term]
- Hypothyroidism [HPO term]
- Low-set ears [HPO term]
- Metabolic acidosis [HPO term]
- Pericardial effusion [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Polyuria [HPO term]
- Protein-losing enteropathy [HPO term]
- Renal dysplasia [HPO term]
- Secretory diarrhea [HPO term]
ORDO concept(s)
- Congenital chronic diarrhea with protein-losing enteropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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