Porphyria, Acute Hepatic malady
Categories: Genetic diseases, Rare diseases
Aliases & Descriptions for Porphyria, Acute Hepatic:
Orphanet epidemiological data:51
Prevalence: 1-9/100000 (Europe),1-9/1000000 (France); Age of onset: Childhood
porphyria, acute hepatic:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
MedlinePlus:35 Lead is a metal that occurs naturally in the earth's crust. lead can be found in all parts of our environment. much of it comes from human activities such as mining and manufacturing. lead used to be in paint; older houses may still have lead paint. you could be exposed to lead by eating food or drinking water that contains lead. water pipes in older homes may contain lead. working in a job where lead is used using lead in a hobby, such as making stained glass or lead-glazed pottery using folk remedies such as herbs or foods that contain lead breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. lead can affect almost every organ and system in your body. in adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. it can also make you irritable and affect your ability to concentrate and remember. lead is especially dangerous for children. a child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. even at low levels, lead can affect a child's mental and physical growth. agency for toxic substances disease registry
MalaCards based summary: Porphyria, Acute Hepatic, also known as porphobilinogen synthase deficiency, is related to ala deficiency porphyria and porphyria due to ala dehydratase deficiency, and has symptoms including behavioral abnormality, thin skin and skin rash. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). Affiliated tissues include liver, brain and skin.
OMIM:49 ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only... (612740) more...
CDC:2 Today at least 4 million households have children living in them that are being exposed to high levels of lead. There are approximately half a million U.S. children ages 1-5 with blood lead levels above 5 micrograms per deciliter (µg/dL), the reference level at which CDC recommends public health actions be initiated.
UniProtKB/Swiss-Prot:67 Acute hepatic porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
HPO human phenotypes related to Porphyria, Acute Hepatic:(show all 19)
Drugs for Porphyria, Acute Hepatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 92)
Interventional clinical trials:(show top 50) (show all 51)
Search NIH Clinical Center for Porphyria, Acute Hepatic
MalaCards organs/tissues related to Porphyria, Acute Hepatic:33
Liver, Brain, Skin, Bone, Testes, Lung
UniProtKB/Swiss-Prot genetic disease variations for Porphyria, Acute Hepatic:67
Clinvar genetic disease variations for Porphyria, Acute Hepatic:5
Search GEO for disease gene expression data for Porphyria, Acute Hepatic.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet