Disease #01662 (argininemia (argininemia), OMIM:207800)

Official abbreviation argininemia
Name argininemia
OMIM ID 207800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 123
Phenotype entries for this disease 100
Associated with 1 gene ARG1
Associated tissues -
Disease features -
Remarks -


Individuals

123 entries on 2 pages. Showing entries 1 - 100.
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00108469 - PubMed: Uchino 1995 3 related patients - - Puerto Rico - - 0 - - argininemia response dietary therapy good ARG1 ARG1 2 3 Johan den Dunnen
00108471 - PubMed: Uchino 1995 - - - Canada French - 0 - - argininemia response dietary therapy slow ARG1 ARG1 2 1 Johan den Dunnen
00108472 - PubMed: Uchino 1995 - - yes Canada French - 0 - - argininemia response dietary therapy good ARG1 ARG1 1 1 Johan den Dunnen
00108473 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108474 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108475 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108476 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108478 patient PubMed: Haraguchi 1990 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - argininemia mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions ARG1 ARG1 2 1 Johan den Dunnen
00108481 - PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia psychomotor retardation and spastic tetraplegia ARG1 ARG1 2 1 Johan den Dunnen
00108482 - PubMed: Uchino 1995 - - yes Pakistan - - 0 - - argininemia response dietary therapy good ARG1 ARG1 1 1 Johan den Dunnen
00108484 - PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia psychomotor retardation and spastic tetraplegia ARG1 ARG1 1 1 Johan den Dunnen
00108485 patient PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108486 patient PubMed: Grody 1992 - - - (United States) - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00108487 patient PubMed: Grody 1992 - - - (United States) - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404547 PatMO PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404548 PatBR PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404566 PatMU/RH PubMed: Vockley 1994 family, 2 affected sibs - - United States - - 0 - - argininemia - ARG1 ARG1 1 2 Johan den Dunnen
00404567 PatDC PubMed: Vockley 1994 individual from incestuous union - yes Mexico - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404569 PatTD PubMed: Klein 1991 - - - United States - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404570 family PubMed: Vockley 1996 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404571 patient PubMed: Vockley 1996 - - - United States - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404574 patient PubMed: Edwards 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hispanic - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404575 family PubMed: Hertecant 2009 family, 3 affected children, unaffected heterozygous carrier parents - - United Arab Emirates Pakistan - 0 - - argininemia - ARG1 ARG1 1 3 Johan den Dunnen
00404576 patient PubMed: Lee 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - 0 - - argininemia see paper; ..., argininemia, progressive spastic diplegia ARG1 ARG1 2 1 Johan den Dunnen
00404577 Pat8 PubMed: Jain-Ghai 2011 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M yes Iraq - - 0 - - argininemia see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay ARG1 ARG1 1 1 Johan den Dunnen
00404578 FamPat2 PubMed: Jain-Ghai 2011 2-generation family, 3 affected sibs, unaffected parents F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes ARG1 ARG1 1 3 Johan den Dunnen
00404579 FamPat3 PubMed: Jain-Ghai 2011 sister F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes ARG1 ARG1 1 1 Johan den Dunnen
00404580 FamPat4 PubMed: Jain-Ghai 2011 sister F - Canada - - 0 - - argininemia see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes ARG1 ARG1 1 1 Johan den Dunnen
00404581 Pat5 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes ARG1 ARG1 2 1 Johan den Dunnen
00404582 Pat6 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes ARG1 ARG1 1 1 Johan den Dunnen
00404583 Pat7 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes ARG1 ARG1 2 1 Johan den Dunnen
00404584 patient;Pat5 PubMed: Scholl-Burgi 2008, PubMed: Huemer 2016 - M - Austria - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404585 patient PubMed: Schiff 2009 - F - France - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404586 patient PubMed: Segawa 2011 - F no Japan - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404588 patient PubMed: Cui 2020, PubMed: Cui 2021 - M - China - - 0 - - argininemia see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait ARG1 ARG1 2 1 Johan den Dunnen
00404589 patient PubMed: Bakirtzis 2021 - M - Greece - - 0 - - argininemia see paper; ..., spastic gait, intellectual disability, seizures - ARG1 1 1 Johan den Dunnen
00404590 Pat1 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404591 Pat2 PubMed: Dorum 2021 - F - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404592 Pat3 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404593 Pat4 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404594 Pat5 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404595 Pat6 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - ARG1 ARG1 1 1 Johan den Dunnen
00404596 patient PubMed: Elsayed 2020 7-generation family, affected (2F, 4M) F;M yes Sudan - - 0 - - argininemia - ARG1 ARG1 1 6 Johan den Dunnen
00404599 patient PubMed: Yucel 2018 - - - Turkey - - 0 - - argininemia - ARG1 ARG1 2 1 Johan den Dunnen
00404600 Pat1 PubMed: Diez-Fernandez 2018 - - - - - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404601 Pat9 PubMed: Diez-Fernandez 2018 - - - Turkey Kurdish - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404602 Pat11c PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404603 Pat11d PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404604 Pat15d PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404605 Pat20 PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404606 Pat22 PubMed: Diez-Fernandez 2018 - - - - Arab - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404607 Pat25d PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404608 Pat25f PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404609 Pat25g PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404610 Pat25p PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404611 Pat26 PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404612 Pat2-2e PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404613 Pat2-2f PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404614 Pat2-6b PubMed: Diez-Fernandez 2018 - - - France - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404615 Pat2-7 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404616 Pat2-9a/b/c PubMed: Diez-Fernandez 2018 family, 3 affected sibs - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 3 Johan den Dunnen
00404617 Pat2-12c PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... ARG1 ARG1 3 1 Johan den Dunnen
00404618 Pat2-12d PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404619 Pat2-17 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404620 Pat2-20a PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404621 Pat2-18b PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404622 Pat2-23 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404623 Pat2-27 PubMed: Diez-Fernandez 2018 - - - Afghanistan - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404624 Pat2-32a PubMed: Diez-Fernandez 2018 - - - Algeria - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404625 Pat2-32b PubMed: Diez-Fernandez 2018 - - - Algeria - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404626 Pat2-34a PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404627 patient PubMed: Amayreh 2014 - - - Germany Arab - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404628 Pat11 PubMed: Carvalho 2012 - - - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404629 Pat1 PubMed: Carvalho 2012 family, affected monozygotic twin brothers M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 2 Johan den Dunnen
00404630 Pat2 PubMed: Carvalho 2012 twin M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404631 Pat3 PubMed: Carvalho 2012 family, 2 affected sibs M yes Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 2 Johan den Dunnen
00404632 Pat4 PubMed: Carvalho 2012 sib M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404633 Pat5 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404634 Pat6 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404635 Pat7 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404636 Pat8 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404637 Pat9 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404638 Pat10 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404639 Pat12 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404640 Pat13 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404641 Pat14 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404642 Pat15 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404643 Pat16 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404644 patient PubMed: Wu 2015 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404645 patient PubMed: Wu 2015 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404646 Pat17 PubMed: Huemer 2016 - - - - - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404647 Pat3 PubMed: Wu 2013 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404648 Pat2 PubMed: Wu 2013 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404649 Pat1 PubMed: Wu 2013 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404650 Pat4 PubMed: Wu 2013 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404651 Pat5 PubMed: Wu 2013 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 1 1 Johan den Dunnen
00404652 patient Mullane 2017, PubMed: Diez-Fernandez 2018 family, 2 affected sibs - - Australia - - 0 - - argininemia see paper; ... ARG1 ARG1 2 2 Johan den Dunnen
00404653 patient Mullane 2017, PubMed: Diez-Fernandez 2018 sib - - Australia - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404654 Pat1 PubMed: Zhang 2017 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
00404655 Pat2 PubMed: Zhang 2017 - - - China - - 0 - - argininemia see paper; ... ARG1 ARG1 2 1 Johan den Dunnen
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