loading...| Preferred Name | Acute Intermittent Porphyria | |
| Synonyms |
Acute Intermittent Porphyria Porphyria, Acute Intermittent |
|
| Definitions |
A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84536 |
|
| code |
C84536 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain. |
|
| FULL_SYN |
Acute Intermittent Porphyria Porphyria, Acute Intermittent |
|
| label |
Acute Intermittent Porphyria |
|
| Preferred_Name |
Acute Intermittent Porphyria |
|
| prefixIRI |
Thesaurus:C84536 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0162565 |
|
| subClassOf |