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Congenital Malabsorptive Diarrhea 4

mutation in NEUROG3

Also Known As:

Diarrhea 4, Malabsorptive, Congenital; Enteric Anendocrinosis

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Digestive Signs and Symptoms
    - Diarrhea: 30904
      - Congenital Malabsorptive Diarrhea 4: 3
Digestive System Diseases: 1042
- Gastrointestinal Diseases: 5874
  - Intestinal Diseases: 1601
    - Malabsorption Syndromes: 639
      - Congenital Malabsorptive Diarrhea 4: 3
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Malabsorption Syndromes: 639
    - Congenital Malabsorptive Diarrhea 4: 3

Related Diseases

1.	Diarrhea
2.	Delayed Puberty
3.	Type 1 Diabetes Mellitus (Autoimmune Diabetes)

Experts

1.	Artan, Reha: 1 article (10/2013)
2.	Elpek, Gulsum O: 1 article (10/2013)
3.	Flanagan, Sarah E: 1 article (10/2013)
4.	Islek, Ali: 1 article (10/2013)
5.	Sayar, Ersin: 1 article (10/2013)
6.	Yilmaz, Aygen: 1 article (10/2013)
7.	Hoskins, Elizabeth E: 1 article (02/2011)
8.	Kalinichenko, Vladimir V: 1 article (02/2011)
9.	Kuhar, Matthew F: 1 article (02/2011)
10.	Mayhew, Christopher N: 1 article (02/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Malabsorptive Diarrhea 4:

1.	Chromogranin AIBA 10/01/2013 - "Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea."
2.	Transcription Factors (Transcription Factor)IBA 02/03/2011 - "We also determined that NEUROG3, a pro-endocrine transcription factor that is mutated in enteric anendocrinosis, is both necessary and sufficient for human enteroendocrine cell development in vitro. "
3.	Hormones (Hormone)IBA 12/17/2022 - "In addition to malabsorptive diarrhea due to enteric anendocrinosis, IDDM, short stature, and delayed puberty, our patients also exhibited pituitary gland hypoplasia with multiple pituitary hormone deficiencies (Patient 1, 2, 3) and proximal renal tubulopathy (Patient 2, 3) that have not previously reported. "