Disease #03712

Official abbreviation APRTD
Name AMP pyrophorylase deficiency (APRTD)
OMIM ID 614723
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 33
Phenotype entries for this disease 2
Associated with 1 gene APRT
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00263054 SL4752 - - F ? Italy - 65y 0 - kidney transplant APRTD HP:0003774 APRT APRT 1 1 Daniela Francesca Giachino
00263055 SL4569 - - F ? Italy - 73y 0 - kidney transplant APRTD HP:0003774 APRT APRT 1 1 Daniela Francesca Giachino
00263056 Fam1 PubMed: Bollee 2010 family, 1 affected - - - (France) - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263057 Fam2 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00263058 Fam3 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 2 2 Johan den Dunnen
00263059 Fam4 PubMed: Bollee 2010 family, 1 affected - - - Turkey - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263060 Fam5 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263061 Fam6 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263062 Fam7 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263063 Fam8 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263064 Fam9 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263065 Fam10 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00263066 Fam11 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - APRT APRT 1 3 Johan den Dunnen
00263067 Fam12 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263068 Fam13 PubMed: Bollee 2010 family, 1 affected - - - Poland - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263069 Fam14 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263070 Fam15 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263071 Fam16 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263072 Fam17 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263073 Fam18 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - APRT APRT 2 3 Johan den Dunnen
00263074 Fam19 PubMed: Bollee 2010 family, 1 affected - - - Morocco - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263075 Fam20 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263076 Fam21 PubMed: Bollee 2010 family, 1 affected - - - Senegal - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263077 Fam22 PubMed: Bollee 2010 family, 1 affected - - - Spain - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263078 Fam23 PubMed: Bollee 2010 family, 1 affected - - - Lebanon - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263079 Fam24 PubMed: Bollee 2010 family, 1 affected - - - Portugal - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263080 Fam25 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263081 Fam26 PubMed: Bollee 2010 family, 1 affected - - - Italy - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263082 Fam27 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263083 Fam28 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263084 Fam29 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263085 Fam30 PubMed: Bollee 2010 family, 1 affected - - - Martinique - 0 - - APRTD - APRT - 0 1 Johan den Dunnen
00263086 Fam31 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
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