Porphyria, acute intermittent

Preferred Label : Porphyria, acute intermittent;

Symbol : AIP;

CISMeF acronym : PORC; AIP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Porphyria, swedish type; Porphobilinogen deaminase deficiency; Pbgd deficiency; Uroporphyrinogen synthase deficiency; Ups deficiency;

Included titles and symbols : Porphyria, acute intermittent, nonerythroid variant; Porphyria, chester type; PORC;

Description : Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes is ineffective (Puy et al., 1998; Petrides, 1998; Whatley et al., 2000). There are several other forms of porphyria: see porphyria cutanea tarda (176100), variegata porphyria (176200), coproporphyria (121300), acute hepatic porphyria (125270), and congenital erythropoietic porphyria (263700).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hydroxymethylbilane synthase gene (HMBS, 176000.0001);

Neoplasia : Increased incidence of hepatocellular carcinoma;

Laboratory abnormalities : Erythrocyte porphobilinogen (PBG) deaminase deficiency (exception: type II AIP); Increased urinary delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) during acute attacks; Urine occasionally port-wine in color secondary to porphobilinogen;

Prefixed ID : #176000;

Details

Origin ID

176000;

UMLS CUI

C0162565;

Automatic exact mappings (from CISMeF team)
- AH Receptor-Interacting Protein [NCIt concept]
- AIP Gene [NCIt concept]
- AIP gene [LOINC component]
- Acute Interstitial Pneumonia [NCIt concept]
- Acute idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Atherogenic Index of Plasma [NCIt concept]
- Autoimmune Pancreatitis [MeSH Descriptor]
- Chin pig breed (organism) [Inactive SNOMED CT concept]
- Family Erethizontidae (organism) [SNOMED CT concept]
- PORCN wt Allele [NCIt concept]
- Pork [NCIt concept]
- Pork (substance) [SNOMED CT concept]
- Porphyria, Chester type [MeSH concept]
- acute interstitial pneumonia [DO Concept]
- aryl hydrocarbon receptor interacting protein [HGNC gene]
- aryl hydrocarbon receptor interacting protein [ORDO Gene]
- aurora kinase A interacting protein 1 [HGNC gene]
- pelvic inflammatory disease [MeSH Descriptor]
- porcine species [SNOMED Notion]
- porcupine O-acyltransferase [ORDO Gene]
- porphyria, acute intermittent, nonerythroid variant [MeSH Supplementary Concept]
- porphyria, acute intermittent, nonerythroid variant [MeSH concept]
- porphyria, chester type [MeSH Supplementary Concept]
- swine [MeSH Descriptor]
Currated CISMeF NLP mapping
- Acute Intermittent Porphyria [NCIt concept]
- Acute intermittent porphyria [PASCAL descriptor]
- Acute intermittent porphyria [ICD-11 More detail]
- Acute intermittent porphyria [ORDO Disease]
- Acute intermittent porphyria [MedDRA LLT]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- Porphobilinogen deaminase deficiency (disorder) [SNOMED CT concept]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
- acute intermittent porphyria [SNOMED Notion]
- hydroxymethylbilane synthase deficiency [MeSH concept]
- porphobilinogen deaminase deficiency [Disease (Nov.)]
- porphyria, acute intermittent [MeSH Descriptor]
- porphyria, acute intermittent [MeSH concept]
DO Cross reference
- acute intermittent porphyria [DO Concept]
False automatic mappings
- Autoimmune pancreatitis [ORDO Disease]
Genes related to phenotype
- Hydroxymethylbilane synthase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Acute episodes of neuropathic symptoms [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Depression [HPO term]
- Diarrhea [HPO term]
- Dysuria [HPO term]
- Elevated urinary delta-aminolevulinic acid [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hypertension [HPO term]
- Muscle weakness [HPO term]
- Nausea [HPO term]
- Paralysis [HPO term]
- Paralytic ileus [HPO term]
- Paresthesia [HPO term]
- Psychotic episodes [HPO term]
- Respiratory paralysis [HPO term]
- Seizure [HPO term]
- Tachycardia [HPO term]
- Urinary incontinence [HPO term]
- Urinary retention [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Acute intermittent porphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute Intermittent Porphyria [NCIt concept]
- Acute intermittent porphyria [MedDRA LLT]
- Acute intermittent porphyria [ORDO Disease]
- Acute intermittent porphyria (disorder) [SNOMED CT concept]
- Acute porphyrias [Vue CIM-11]
- Porphyria acute [MedDRA Preferred Term]
- acute intermittent porphyria [SNOMED Notion]
- acute intermittent porphyria [DO Concept]
- acute intermittent porphyria [Disease (Nov.)]
- porphyria, acute intermittent [MeSH Descriptor]
- porphyria, acute intermittent [MeSH concept]

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