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X-Linked Hypoparathyroidism

Also Known As:

Hypoparathyroidism, X-Linked

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

Disease Context: Research Results

Endocrine System Diseases: 968
- Parathyroid Diseases: 240
  - Hypoparathyroidism: 2755
    - X-Linked Hypoparathyroidism: 3
Endocrine System
- Endocrine Glands
  - Parathyroid Glands
    - X-Linked Hypoparathyroidism: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - X-Linked Hypoparathyroidism: 3

Experts

1.	Whyte, Michael P: 2 articles (01/2020 - 12/2004)
2.	Bowl, Mike R: 1 article (01/2020)
3.	Christie, Paul T: 1 article (01/2020)
4.	Fraser, William D: 1 article (01/2020)
5.	Gaynor, Katie U: 1 article (01/2020)
6.	Grigorieva, Irina V: 1 article (01/2020)
7.	Hough, Tertius: 1 article (01/2020)
8.	Kooblall, Kreepa G: 1 article (01/2020)
9.	Lovell-Badge, Robin: 1 article (01/2020)
10.	Mirczuk, Samantha M: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked Hypoparathyroidism:

1.	Complementary DNA (cDNA)IBA 12/01/2004 - "X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. "
2.	Factor IX (Coagulation Factor IX)FDA LinkGeneric 05/15/1996 - "The ratio of cM/Mb correspondingly delimits the location of several disease genes-including, for example, X-linked hypoparathyroidism in 3 Mb (6 cM) telomeric to Factor IX."
3.	ElementsIBA 01/01/2020 - "X-linked hypoparathyroidism (XLHPT) in two American families, is associated with interstitial deletion-insertions involving deletions of chromosome Xq27.1 downstream of SOX3 and insertions of predominantly non-coding DNA from chromosome 2p25.3. These could result in loss, gain, or movement of regulatory elements, which include ultraconserved element uc482, that could alter SOX3 expression,. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2020 - "X-linked hypoparathyroidism (XLHPT) in two American families, is associated with interstitial deletion-insertions involving deletions of chromosome Xq27.1 downstream of SOX3 and insertions of predominantly non-coding DNA from chromosome 2p25.3. These could result in loss, gain, or movement of regulatory elements, which include ultraconserved element uc482, that could alter SOX3 expression,. "
5.	P-type ATPasesIBA 12/01/2004 - "X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase."