Disease #00443 (DGI1 (dentinogenesis imperfecta, Shields type I (DGI-1)), OMIM:125490)

Official abbreviation DGI1
Name dentinogenesis imperfecta, Shields type I (DGI-1)
OMIM ID 125490
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 30
Phenotype entries for this disease 22
Associated with 1 gene DSPP
Associated tissues -
Disease features -
Remarks -
Date created 2014-07-09 12:56:14 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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00019552 - - - - ? (France) - - - - - DGI1 mild DI DSPP DSPP 1 1 Muriel de La Dure-Molla
00019554 - PubMed: Malmgren 2014 - ? ? - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019555 - PubMed: Xiao 2001 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019556 - PubMed: Zhang 2007 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019557 - PubMed: Lee 2013 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019559 - PubMed: Wang 2009 6-generation family, 25 affecteds (13F, 12M) - - China - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 25 Muriel de La Dure-Molla
00019560 - PubMed: Kim 2004 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019561 - PubMed: Holapa 2006 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019562 - PubMed: Xiao 2001 - - - - - - - - - DGI1 dentinogenesis impefecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019563 - PubMed: Lee 2009 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate/severe DSPP DSPP 1 1 Muriel de La Dure-Molla
00019564 - PubMed: Zhang 2001 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019565 - PubMed: Xiao 2001 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019566 - PubMed: McKnight 2008 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019567 - PubMed: Zhang 2001 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019568 - PubMed: Bai 2010 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019569 - PubMed: Malmgren 2004 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019577 - PubMed: McKnight 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta mild/moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019578 Fam9PatIII2 PubMed: Nieminen 2011 family, 2 affected - - Spain - - - - - DGI1 primary teeth moderate amber color, ; permanent teeth moderate amber color, severe increased constriction at CEJ, mild attrition, moderate obliterated pulps in erupted teeth, moderate obliterated root canals in erupted teeth, no thistle-tube or funnel shape of pulp chamber, mild shorter root length, moderate thinner roots, severe periapical radiolucencies DSPP DSPP 1 2 Muriel de La Dure-Molla
00019579 - PubMed: McKnight 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019580 - PubMed: Song 2008 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019581 Fam10PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - DGI1 primary teeth severe amber color, mild increased constriction at CEJ, no attrition, severe obliterated pulps, no periapical radiolucencies, ; permanent teeth severe amber color, mild increased constriction at CEJ, no attrition, severe obliterated pulps in erupted teeth, severe obliterated pulps in unerupted teeth, severe obliterated root canals in erupted teeth, severe obliterated root canals in unerupted teeth, no thistle-tube or funnel shape of pulp chamber, mild shorter root length, mild thinner roots, no periapical radiolucencies DSPP DSPP 1 1 Muriel de La Dure-Molla
00019582 - PubMed: Song 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019583 - PubMed: Lee 2011 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019585 - PubMed: Song 2008 - - - - - - - - - DGI1 - DSPP DSPP 1 1 Muriel de La Dure-Molla
00019586 - PubMed: Song 2008 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019587 - PubMed: Lee 2011 - - - - - - - - - DGI1 dentinogenesis imperfecta moderate DSPP DSPP 1 1 Muriel de La Dure-Molla
00019588 Fam11PatII4 PubMed: Nieminen 2011 5-generation family, 16 affected (9F, 7M) F - Finland - - - - - DGI1 permanent teeth moderate amber color, severe periapical radiolucencies DSPP DSPP 1 16 Muriel de La Dure-Molla
00019590 Fam12PatI1 PubMed: Nieminen 2011 family - - Viet Nam - - - - - DGI1 permanent teeth severe amber color, severe increased constriction at CEJ, no attrition, severe obliterated pulps in erupted teeth, moderate obliterated root canals in erupted teeth, no obliterated root canals in unerupted teeth, mild thistle-tube or funnel shape of pulp chamber, no shorter root length, mild thinner roots, severe periapical radiolucencies DSPP DSPP 1 1 Muriel de La Dure-Molla
00323334 - PubMed: Wang et al., 2012 The c.1171G>A variant in this patient is known to be disease causing, but he exhibits no symptoms of OI. He also harbours a c.43T>A, p.Phe15Ile variant in the PAX9 gene which accounts for his tooth agenesis. - - - European - - - - DGI1 - COL1A2 COL1A2 2 1 Raymond Dalgleish
00323336 - PubMed: Kantaputra et al., 2018 The technique used was whole exome sequencing. - - - Thai - - - - DGI1 - COL1A2 COL1A2 1 1 Raymond Dalgleish
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