ORPHA:329242

Congenital chronic diarrhea with protein-losing enteropathy

Synonyms: Congenital chronic diarrhea with exudative enteropathy

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital chronic diarrhea with protein-losing enteropathy	Congenital chronic diarrhea with exudative enteropathy
fr	Diarrhée chronique congénitale avec entéropathie exsudative	Diarrhée chronique congénitale avec perte de protéines
de	Kongenitale chronische Diarrhoe mit Protein-Verlust-Enteropathie	Kongenitale chronische Diarrhoe mit exudativer Enteropathie
es	Diarrea crónica congénita con enteropatía perdedora de proteínas	Diarrea crónica congénita con enteropatía exudativa
it	Diarrea cronica congenita associata ad enteropatia con perdita di proteine	Diarrea cronica congenita con enteropatia essudativa
nl	Congenitale chronische diarree met proteïneverliezende enteropathie	Congenitale chronische diarree met exsudatieve enteropathie
pt	Diarreia crónica congénita com enteropatia com perda de proteína	Diarreia crónica congénita com enteropatia exsudativa
pl	Wrodzona biegunka przewlekła z enteropatią z utratą białka	Wrodzona biegunka przewlekła z enteropatią wysiękową
cs	Vrozená chronická diarea s protein-ztrácející enteropatií	Vrozená chronická diarea s exudativní enteropatií
uk	Вроджена хронічна діарея з ентеропатією з втратою білка	Вроджена хронічна діарея з ексудативною ентеропатією
zh	先天性慢性腹泻伴蛋白丢失性肠病	先天性慢性腹泻伴渗出性肠病
tr	Protein kaybettiren enteropati ile seyreden doğumsal kronik diyare	Eksüdatif enteropati ile seyreden doğumsal kronik diyare

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	615863	BTNT		validated
OMIM	618183	BTNT		validated
ICD-10	P78.3	NTBT	attributed	validated
ICD-11	DA96.Y	NTBT	attributed	validated
MONDO	14375	E		validated
UMLS	C4751003	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):

ORPHA:97935Rare gastroenterologic disease

Parents in the classifications (2):

ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases
ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DGAT1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2843	ENSG00000185000	604900	8q24.3	diacylglycerol O-acyltransferase 1	23114594[PMID]
PLVAP	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13635	ENSG00000130300	607647	19p13.11	plasmalemma vesicle associated protein	29661969[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 cases	Worldwide	Case(s)	Validated	23114594[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

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/329242
This record as JSON: /data/d/329242.json