Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
|
11399210 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
|
11399210 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
|
11399210 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase gene (PBGD).
|
12566739 |
2002 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyrias, inherited as an autosomal dominant trait, caused by a defect in the gene which codifies for the heme enzyme porphobilinogen deaminase.
|
12899439 |
2003 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD).
|
14757946 |
2004 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD).
|
14757946 |
2004 |
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Acute intermittent porphyria (AIP), due to half-normal hydroxymethylbilane synthase activity,is characterized by acute life-threatening neurologic attacks whose etiology remains unclear.
|
15534187 |
2004 |
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a metabolic disease due to a partial deficiency of hydroxymethylbilane synthase (HMBS) in heme biosynthesis.
|
16211556 |
2005 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway.
|
16828319 |
2006 |
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by the half-normal activity of hydroxymethylbilane synthase (HMB-synthase).
|
17654633 |
2007 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway.
|
18405488 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of the porphobilinogen deaminase gene.
|
18669508 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP.
|
19138865 |
2009 |
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP.
|
19138865 |
2009 |
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is an autosomal dominant disorder of the haem biosynthesis resulting from a partial deficiency of hydroxymethylbilane synthase (HMBS) with incomplete penetrance.
|
20850424 |
2011 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies.
|
20978940 |
2010 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP), an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway.
|
26071363 |
2015 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a disorder of the haem biosynthetic pathway caused by mutations in the hydroxymethylbilane synthase (<i>HMBS</i>) gene.
|
27849156 |
2017 |
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a rare metabolic disorder due to a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway.
|
28666226 |
2017 |
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is an inherited disorder of haem metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency.
|
29498764 |
2018 |
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is a heme pathway disorder caused by a decrease in the activity and synthesis of porphobilinogen deaminase.
|
30218352 |
2018 |
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway.
|
30297912 |
2018 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute Intermittent Porphyria (AIP), an autosomal dominant hepatic disorder, results from hydroxymethylbilane synthase (HMBS) mutations that decrease the encoded enzymatic activity, thereby predisposing patients to life-threatening acute neurovisceral attacks.
|
30777612 |
2019 |