Lchad Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases
Aliases & Descriptions for Lchad Deficiency:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany),1-9/1000000 (Poland),1-9/100000 (Estonia),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood
Inheritance: Multigenic/multifactorial; Age of onset: Adult
Mortality/Aging: sudden death
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Endocrine diseases
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases
NIH Rare Diseases:47 Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent nausea and vomiting, pain in the stomach or upper-right abdomen, malaise, jaundice and headache. Without prompt treatment, AFLP can lead to coma, organ failure or death of the mother and baby. Treatment involves stabilizing the mother and delivery of the baby. Last updated: 8/25/2014
MalaCards based summary: Lchad Deficiency, also known as aflp, is related to trifunctional protein deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency, and has symptoms including pigmentary retinopathy, muscular hypotonia and cardiomyopathy. An important gene associated with Lchad Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit). Affiliated tissues include liver, eye and testes.
Genetics Home Reference:25 Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
OMIM:51 Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized... (609016) more...
UniProtKB/Swiss-Prot:69 Long-chain 3-hydroxyl-CoA dehydrogenase deficiency: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. Maternal acute fatty liver of pregnancy: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).
Diseases related to Lchad Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:(show all 27)
Graphical network of the top 20 diseases related to Lchad Deficiency:
Clinical features from OMIM:609016
Human phenotypes related to Lchad Deficiency:63 (show all 6)
UMLS symptoms related to Lchad Deficiency:myalgia, weakness
Drugs for Lchad Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 26)
Interventional clinical trials:
Search NIH Clinical Center for Lchad Deficiency
MalaCards organs/tissues related to Lchad Deficiency:35
Liver, Eye, Testes, Skin
Articles related to Lchad Deficiency:(show top 19) (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Lchad Deficiency:69
Clinvar genetic disease variations for Lchad Deficiency:5 (show all 28)
Search GEO for disease gene expression data for Lchad Deficiency.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet