HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

ABCD syndrome

Also Known As:

Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness

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

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Waardenburg Syndrome: 115
      - ABCD syndrome: 2

Related Diseases

1.	Down Syndrome (Down's Syndrome)
2.	Calcinosis
3.	type 4 Waardenburg syndrome

Experts

1.	Ergun-Longmire, Berrin: 1 article (08/2021)
2.	Kamil, Ammar: 1 article (08/2021)
3.	Litra, Florentina: 1 article (08/2021)
4.	Nguyen, Minh: 1 article (08/2021)
5.	Hofstra, Robert M W: 1 article (03/2002)
6.	Kunze, Jürgen: 1 article (03/2002)
7.	Osinga, Jan: 1 article (03/2002)
8.	Verheij, Joke B G M: 1 article (03/2002)
9.	van Essen, Anthonie J: 1 article (03/2002)

Drugs and Biologics

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

1.	Endothelin B ReceptorIBA 03/15/2002 - "Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. "
2.	DNA (Deoxyribonucleic Acid)IBA 03/15/2002 - "Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. "
3.	CreatinineIBA 08/01/2021 - "Abnormal calcium/calcinosis/creatinine in Down syndrome (ABCD syndrome) is a very rare condition with no clear etiology. "
4.	CalciumIBA 08/01/2021 - "Abnormal calcium/calcinosis/creatinine in Down syndrome (ABCD syndrome) is a very rare condition with no clear etiology. "