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Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
,
Dihydropyrimidine dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Menselijke Erfelijkheid - KUL
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
,
CPT1A
,
CYP27A1
,
DGUOK
,
DHCR7
,
EHHADH
,
GBE1
,
GNAS
,
GUSB
,
LIPA
,
MPV17
,
NEU1
,
NPC1
,
NPC2
,
POLG
,
SI
,
SLC25A13
,
SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Smith-Lemli-Opitz syndrome
,
Primary Fanconi renotubular syndrome
,
Glycogen storage disease IV
,
McCune-Albright syndrome
,
Mucopolysaccharidosis type 7
,
Wolman disease
,
Cholesteryl ester storage disease
,
Sialidosis type 1
,
Juvenile sialidosis type 2
,
Congenital sialidosis type 2
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
,
Citrullinemia type II
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
,
TBP
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
,
Spinocerebellar ataxia type 17
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Brussel VUB
Gilbert syndrome (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
,
Transient familial neonatal hyperbilirubinemia
Centrum Menselijke Erfelijkheid - KUL
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