Martinez-Frias Syndrome

Also Known As:

Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia; Martinez Frias syndrome; Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Glucose Metabolism Disorders: 375
    - Diabetes Mellitus: 56563
      - Martinez-Frias Syndrome: 2
Endocrine System Diseases: 968
- Diabetes Mellitus: 56563
  - Martinez-Frias Syndrome: 2
Digestive System Diseases: 1042
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Digestive System Abnormalities
    - Intestinal Atresia: 156
      - Martinez-Frias Syndrome: 2
Respiratory Tract Diseases: 6015
- Tracheal Diseases: 26
  - Tracheoesophageal Fistula: 834
    - Martinez-Frias Syndrome: 2
- Respiratory Tract Fistula: 7
  - Tracheoesophageal Fistula: 834
    - Martinez-Frias Syndrome: 2
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Fistula: 24227
    - Digestive System Fistula: 1
      - Esophageal Fistula: 509
        Tracheoesophageal Fistula: 834
        Martinez-Frias Syndrome: 2

Experts

1.	Alcolea, Alida: 1 article (01/2022)
2.	Andrés, Ane: 1 article (01/2022)
3.	Estefanía-Fernández, Karla: 1 article (01/2022)
4.	Gonzalez, Rocío: 1 article (01/2022)
5.	Hernández, Francisco: 1 article (01/2022)
6.	López-Santamaria, Manuel: 1 article (01/2022)
7.	Pastrían, Laura G: 1 article (01/2022)
8.	Ramos, Esther: 1 article (01/2022)
9.	Ramírez-Amorós, Carla: 1 article (01/2022)
10.	Sarría, Marta: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Martinez-Frias Syndrome:

1.	IronIBA 01/01/2010 - "Molecular analyses in this and other reported patients with the Martinez-Frias syndrome should shed light on gut development and iron metabolism."

Therapies and Procedures

1.	Transplantation 01/01/2022 - "First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome."