Disease #00422 (DPDD (dihydropyrimidine dehydrogenase deficiency (DPDD)), OMIM:274270)

Official abbreviation DPDD
Name dihydropyrimidine dehydrogenase deficiency (DPDD)
OMIM ID 274270
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 18
Phenotype entries for this disease 12
Associated with 1 gene DPYD
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Individuals

18 entries on 1 page. Showing entries 1 - 18.
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00017570 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD 1 1 Johan den Dunnen
00017572 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD 1 1 Johan den Dunnen
00017573 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD 1 1 Johan den Dunnen
00017575 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD 2 1 Johan den Dunnen
00017576 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD, DPYD-AS1 2 1 Johan den Dunnen
00017577 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - DPYD DPYD 1 1 Johan den Dunnen
00017586 - PubMed: Diasio 1988, PubMed: Johnson 2002 4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD F no United States - - 0 - - DPDD - DPYD DPYD 3 1 Johan den Dunnen
00017588 - PubMed: Johnson 2002 daugther of 11895907-FamPatII5/II6 F no United States - - 0 - - DPDD partial deficiency DPYD DPYD 2 1 Johan den Dunnen
00017589 - PubMed: Johnson 2002 son of 11895907-FamPatII5/II6 M no United States - - 0 - - DPDD partial deficiency DPYD DPYD 2 1 Johan den Dunnen
00017591 - PubMed: Johnson 1999 - M - United States white >76y 0 - 5-fluorouracil (5-FU) DPDD carcinoma, basal cell; severe toxicity from 5-FU treatment DPYD DPYD 1 1 Johan den Dunnen
00017592 - PubMed: Wei 1996 3-generation family, 10 affecteds (4F, 6M) - - United Kingdom (Great Britain) - - 0 - - DPDD partial deficiency, index case 5-FU toxicity from cancer treatment DPYD DPYD 1 10 Johan den Dunnen
00017593 - PubMed: Vreken 1997 - M ? Netherlands - - 0 - - DPDD 8y-severe growth retardation (length <3rd centile), submitted to hospital for treatment of upper airway infection, hypokalaemia (2.5mmol/L), thymine-uraciluria, no convulsions or other neurological abnormalities DPYD DPYD 2 1 Johan den Dunnen
00017594 - PubMed: Vreken 1997 2-generation family, parent first cousins M yes Netherlands - - 0 - - DPDD 9m-febrile convulsions, severe neuromotor retardation, spastic tetraplegia, cerebral MRI ventriculomegaly with white-matter hypodensity microcephaly, growth retardation; 6y- thymine-uraciluria DPYD DPYD 1 1 Johan den Dunnen
00017595 - PubMed: Vreken 1997 father of patient 09266349-PatAf M ? Netherlands - - 0 - - DPDD - DPYD DPYD 1 1 Johan den Dunnen
00155716 mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - 0 - - DPDD see paper; ..., healthy, history of gastrointestinal dysmotility, normal development, normal intellect, significant pregnancy-induced symptoms (severe abdominal pain, increased gastrointestinal symptoms, pancreatitis, intermittent changes in consciousness) in three consecutive pregnancies; 3rd pregnancy developed recurrent stroke-like episodes including symptoms of headaches, blurring to near loss of vision, and right hemiparesis DPYD DPYD 3 3 Maja Tarailo-Graovac
00228665 son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - 0 - - DPDD see paper; ..., born with apparent cortical blindness, subsequently exhibited severe developmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability DPYD DNAH11, DPYD, KBTBD12, SCN10A, SNTA1, SRPX, SRRM2, TNXB, VCX2, WDR36, ZNF180 20 1 Johan den Dunnen
00228666 daughter PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - F - Netherlands - - 0 - - DPDD see paper; ..., congenital blindness delayed early gross motor and social milestones; 8m-visual impairment improved, development normalized; 10's-gastrointestinal dysmotility; 19y-intellectually normal DPYD DPYD 2 1 Johan den Dunnen
00289434 - - - F - United States - - 0 - - DPDD - DPYD DPYD 1 1 Nedal Bukhari
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