Disease #01995 (HP1 (hyperoxaluria, primary, type I (HP1)), OMIM:259900)

Official abbreviation HP1
Name hyperoxaluria, primary, type I (HP1)
OMIM ID 259900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 49
Phenotype entries for this disease 49
Associated with 1 gene AGXT
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-04-14 13:35:08 +02:00 (CEST)


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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00362012 Fam15Pat16 PubMed: Soliman 2022 family, 2 affected identical twins M yes Egypt white - - - - HP1 see paper; ... AGXT AGXT 2 2 Mohamed A. Elmonem
00362013 Fam16Pat18 PubMed: Soliman 2022 patient M yes (Egypt) - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00411364 1002 Abid 2022, submitted 2-generation family suffering from hyperoxaluria, primary, type I (HP1) M likely Pakistan Pakistan - - - - HP1 hyperoxaluria AGXT AGXT 1 1 Aiysha Abid
00411365 1003 Abid 2022, submitted familial M yes Pakistan Asia-S >11y - - - HP1 hyperoxaluria AGXT AGXT 1 2 Aiysha Abid
00411366 1004 Abid 2022, submitted - M yes Pakistan Asia-S - - - - HP1 - AGXT AGXT 1 2 Aiysha Abid
00411367 1005 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411378 1006 Abid 2022, submitted - F likely Pakistan Pakistan - - - - HP1 ESRD stone disease AGXT AGXT 1 1 Aiysha Abid
00411379 1007 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411410 1008 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411413 1008 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 stone disease with nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411414 1010 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411415 1011 Abid 2022, submitted - F yes Pakistan Pakistan >11y - - - HP1 calcium stone disease with nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411416 1012 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411418 1013 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411422 1014 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 familial stone disease, nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411423 1015 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411424 1016 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411425 1017 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 stone disease, nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411426 1018 Abid 2022, submitted - F likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411456 1019 Abid 2022, submitted - M no Pakistan Pakistan - - - - HP1 - AGXT AGXT 2 1 Aiysha Abid
00411457 1020 Abid 2022, submitted - F ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411458 1021 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411496 1022 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411501 1023 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411504 1024 Abid 2022, submitted - F yes Pakistan Pakistan - - - - HP1 CKD stone disease AGXT AGXT 1 1 Aiysha Abid
00411505 1025 Abid 2022, submitted - M likely Pakistan Pakistan - - - - HP1 stone disease with nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411528 1027 Abid 2022, submitted - M ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411529 1028 Abid 2022, submitted - F ? Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411530 1029 Abid 2022, submitted - M yes Pakistan Pakistan - - - - HP1 oxalosis nephrocalcinosis AGXT AGXT 1 1 Aiysha Abid
00411531 1031 Abid 2022, submitted - M yes Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00411546 1033 Abid 2022, submitted - F likely Pakistan Pakistan - - - - HP1 - AGXT AGXT 1 1 Aiysha Abid
00467572 Fam1Pat1 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467573 Fam2Pat2 PubMed: Soliman 2022 patient F - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467574 Fam3Pat3 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467575 Fam4Pat4 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467576 Fam5Pat5 PubMed: Soliman 2022 patient F - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467577 Fam6Pat6 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467578 Fam7Pat7 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467579 Fam8Pat8 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467580 Fam9Pat9 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467581 Fam10Pat10 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467582 Fam11Pat11 PubMed: Soliman 2022 family, 2 affected sibs M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 2 Mohamed A. Elmonem
00467583 Fam11Pat12 PubMed: Soliman 2022 sib M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467584 Fam12Pat13 PubMed: Soliman 2022 patient F - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467585 Fam13Pat14 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467586 Fam14Pat15 PubMed: Soliman 2022 patient F - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467587 Fam15Pat17 PubMed: Soliman 2022 twin M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 2 1 Mohamed A. Elmonem
00467588 Fam17Pat19 PubMed: Soliman 2022 patient M - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
00467589 Fam18Pat20 PubMed: Soliman 2022 patient F - Egypt - - - - - HP1 see paper; ... AGXT AGXT 1 1 Mohamed A. Elmonem
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