Disease: Pigment dispersion syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		0.050 Biomarker disease BEFREE We report two unrelated patients affected with PDS as a result of alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency caused by pathogenic ALDH7A1/antiquitin mutations. 18717709 2009
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		0.050 Biomarker disease BEFREE Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis. 16491085 2006
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		0.050 GeneticVariation disease BEFREE We report the long-term follow-up in two PDS siblings carrying a novel ALDH7A1 mutation. 21733724 2011
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		0.050 GeneticVariation disease BEFREE Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. 19128417 2009
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		0.050 Biomarker disease BEFREE Alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was identified as an underlying defect in PDS characterized by accumulation of alpha-aminoadipic semialdehyde (alpha-AASA) as a specific marker and recently folinic acid-responsive seizures (FRS) were found to be allelic to PDS as the putative mutations were identified in the antiquitin gene (ALDH7A1). alpha-AASA is known to be in reversible equilibrium with its cyclic Shiff base, delta(1)-piperideine-6-carboxylate (P6C). 19631689 2009