Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors
Description
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. MeSH
Hierarchy View
Subtype Terms (15)
Barth Syndrome
2 drugs (1 approved, 1 experimental)
Hyperlipidemia, Familial Combined
5 approved drugs
Hyperlipoproteinemia Type I
10 drugs (5 approved, 5 experimental)
Hyperlipoproteinemia Type II
31 drugs (15 approved, 16 experimental)
Hyperlipoproteinemia Type III
6 drugs (5 approved, 1 experimental)
Hyperlipoproteinemia Type IV
6 drugs (4 approved, 2 experimental)
Hyperlipoproteinemia Type V
4 drugs (1 approved, 3 experimental)
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypolipoproteinemias
2 approved drugs
Lipidoses
1 approved drug
Lipodystrophy, Congenital Generalized
3 drugs (1 approved, 2 experimental)
Lipodystrophy, Familial Partial
7 drugs (3 approved, 4 experimental)
Shwachman-Diamond Syndrome
16 drugs (12 approved, 4 experimental)
Smith-Lemli-Opitz Syndrome
6 drugs (3 approved, 3 experimental)
Xanthomatosis, Cerebrotendinous
2 approved drugs
Phase 3 Indicated Drugs (3)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 3 Indications (4)
Organization Involved with Phase 2 Indications (1)
Organization Involved with Phase 1 Indications (3)
Organization Involved with Other Experimental Indications (10)
Hierarchy Tree View
UMLS Data
YOU AGREE THAT THE INFORMATION PROVIDED ON THIS WEBSITE IS PROVIDED “AS IS”, WITHOUT ANY WARRANTY OF ANY KIND, EXPRESSED OR IMPLIED, INCLUDING WITHOUT LIMITATION WARRANTIES OF MERCHANTABILITY OR FITNESS FOR ANY PARTICULAR PURPOSE, OR NON-INFRINGEMENT OF ANY THIRD-PARTY PATENT, COPYRIGHT, OR ANY OTHER THIRD-PARTY RIGHT. IN NO EVENT SHALL THE CREATORS OF THE WEBSITE OR WASHINGTON UNIVERSITY BE LIABLE FOR ANY DIRECT, INDIRECT, SPECIAL, OR CONSEQUENTIAL DAMAGES ARISING OUT OF OR IN ANY WAY CONNECTED WITH THE WEBSITE, THE USE OF THE WEBSITE, OR THIS AGREEMENT, WHETHER IN BREACH OF CONTRACT, TORT OR OTHERWISE, EVEN IF SUCH PARTY IS ADVISED OF THE POSSIBILITY OF SUCH DAMAGES.
