Aagenaes syndrome

Also Known As:

Cholestasis lymphedema syndrome; Cholestasis-Lymphedema Syndrome; Lymphedema - cholestasis syndrome; Lymphedema-Cholestasis Syndrome

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Digestive System Diseases: 1042
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholestasis: 7937
      - Aagenaes syndrome: 5
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Lymphedema: 3501
    - Aagenaes syndrome: 5

Related Diseases

1.	Aagenaes syndrome
2.	Sclerosing Cholangitis
3.	Lymphedema (Milroy Disease)
4.	Liver Cirrhosis (Hepatic Cirrhosis)
5.	Intrahepatic Cholestasis

Experts

1.	Almaas, Runar: 1 article (01/2021)
2.	Atneosen-Åsegg, Monica: 1 article (01/2021)
3.	Melheim, Maria: 1 article (01/2021)
4.	Finkenstedt, Armin: 1 article (01/2017)
5.	Glodny, Bernhard: 1 article (01/2017)
6.	Janecke, Andreas R: 1 article (01/2017)
7.	Moser, Patrizia: 1 article (01/2017)
8.	Reiterer, Marion: 1 article (01/2017)
9.	Schaefer, Benedikt: 1 article (01/2017)
10.	Schneeberger, Stefan: 1 article (01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aagenaes syndrome:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). " 10/01/2023 - "Patients with Aagenaes syndrome exhibited lower expression of UNC45A mRNA and protein than controls, and this was reproduced in a CRISPR/Cas9-created cell model. "
2.	MicroRNAs (MicroRNA)IBA 01/01/2021 - "miRNA in dried blood spots could be used to detect differential expression of miRNA in newborns with Aagenaes syndrome and healthy controls in newborn screening cards. " 01/01/2021 - "MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors." 01/01/2021 - "Early after birth, patients with cholestasis-lymphedema syndrome exhibit miRNA profiles associated with liver fibrosis. " 01/01/2021 - "miRNA was also obtained from newborn screening cards in patients with cholestasis-lymphedema syndrome/Aagenaes syndrome and in healthy newborns. " 01/01/2021 - "The feasibility of using miRNA from dried blood spots (DBS) was investigated using newborn screening cards from patients with cholestasis-lymphedema syndrome (Aagenaes syndrome) and controls. "
3.	Messenger RNA (mRNA)IBA 10/01/2023 - "Patients with Aagenaes syndrome exhibited lower expression of UNC45A mRNA and protein than controls, and this was reproduced in a CRISPR/Cas9-created cell model. "
4.	Myosins (Myosin)IBA 10/01/2023 - "A variant in the 5'-untranslated region of the Unc-45 myosin chaperone A (UNC45A) was identified in all tested patients with Aagenaes syndrome, providing evidence of the genetic background of the disease. " 10/01/2023 - "One specific variant (c.-98G>T) in the 5'-untranslated region of Unc-45 myosin chaperone A (UNC45A) was identified in all tested patients with Aagenaes syndrome. "
5.	Aspartate Aminotransferases (Aspartate Transaminase)IBA 12/01/1984 - "The gamma-GT/ASAT (aspartate aminotransferase) and gamma-GT/ALAT (alanine aminotransferase) ratios were examined in 6 children with neonatal hepatitis (NH), 14 children with extrahepatic biliary atresia (EHBA), and 8 children with intrahepatic cholestasis (IHC) (of which 3 with the Aagenaes syndrome). "
6.	Alanine Transaminase (SGPT)IBA 12/01/1984 - "The gamma-GT/ASAT (aspartate aminotransferase) and gamma-GT/ALAT (alanine aminotransferase) ratios were examined in 6 children with neonatal hepatitis (NH), 14 children with extrahepatic biliary atresia (EHBA), and 8 children with intrahepatic cholestasis (IHC) (of which 3 with the Aagenaes syndrome). "

Therapies and Procedures

1.	Dental Care 03/01/2015 - "Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1."