Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

General Information (adopted from Orphanet):

Synonyms, Signs: DIAR4
enteric anendocrinosis
Number of Symptoms 11
OrphanetNr: 83620
OMIM Id: 610370
ICD-10: P78.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital enteropathy involving intestinal mucosa development
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002013) Vomiting 191 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0004325) Decreased body weight 492 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0001944) Dehydration 59 / 7739
6
 (HPO:0004918) Hyperchloremic metabolic acidosis 6 / 7739
7
 (OMIM) Dysgenesis of enteroendocrine cells in the small and large bowel mucosa 1 / 7739
8
 (OMIM) Type 1 diabetes mellitus developed in some patients 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (HPO:0003623) Neonatal onset 22 / 7739
11
 (OMIM) Diarrhea, malabsorptive, severe 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (2006) reported 3 unrelated boys who presented with chronic unremitting malabsorptive diarrhea in the first weeks of life. Accompanying features included vomiting, dehydration, and severe hyperchloremic metabolic acidosis after the ingestion of standard cows-milk-based formula. ...
Molecular genetics OMIM In 3 unrelated boys with congenital malabsorptive diarrhea, Wang et al. (2006) identified 2 different homozygous mutations in the NEUROG3 gene (604882.0001; 604882.0002).