|
Abdominal Pain
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abdominal Pain
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormal vision
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Acute episodes of neuropathic symptoms
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute episodes of neuropathic symptoms
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Acute episodes of neuropathic symptoms
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene.
|
16211556 |
2005 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
|
1496994 |
1992 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).
|
30201327 |
2018 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results define the extent of allelic heterogeneity and the types (41% missense; 59% truncating) and distribution (35% in exons 10, 12, 14) of HMBS mutations, for AIP in the United Kingdom.
|
10453740 |
1999 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The PBGD gene of 18 Swiss AIP patients was analyzed by denaturing gradient gel electrophoresis screening of the genomic DNA and direct sequencing.
|
10782018 |
2000 |
|
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
The structure provides insights into the mechanism of action of PBGD at the molecular level and could aid the development of potential drugs for the up-regulation of PBGD activity in AIP.
|
18936296 |
2009 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene.
|
8270256 |
1994 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.
|
7623445 |
1995 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
|
8401516 |
1993 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
|
9455613 |
1997 |
|
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 |
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
|
14970743 |
2004 |
|
Acute intermittent porphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Three enzymic changes have now been identified in patients with acute intermittent porphyria; a high level of delta-aminolevulinate synthase activity; a low level of uroporphyrinogen I synthase activity; and a deficiency of steroid Delta(4)-5alpha reductase activity.
|
4522787 |
1974 |
|
Acute intermittent porphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
|
7258864 |
1981 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Difficulties with the biochemical diagnosis could be overcome by the ability to identify the PBGD gene defects in AIP patients.
|
7592566 |
1995 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Although more than 170 different mutations are known to the HMBS gene so far, over 40% of all mutations identified among the Polish AIP patients of this study are novel mutations, indicating the heterogeneity of molecular defects causing AIP.
|
11857754 |
2002 |
|
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria.
|
8081367 |
1994 |