Disease #00368 (STHAG1 (agenesis, tooth, selective, with/without orofacial cleft, type 1 (STHAG-1)), OMIM:106600)

Official abbreviation STHAG1
Name agenesis, tooth, selective, with/without orofacial cleft, type 1 (STHAG-1)
OMIM ID 106600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 19
Phenotype entries for this disease 17
Associated with 1 gene MSX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-04-08 21:59:18 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00016400 - PubMed: van den Boogaard 2000 large family, 12 affected family members ? no Netherlands Dutch - - - - STHAG1 abnormal number of permanent teeth; oral cleft MSX1 MSX1 1 12 Elaine Lustosa Mendes
00016404 cases PubMed: Reddy 2013 compared 50 non-syndromic tooth agenesis patients (A) and 50 control subjects (B), the variants was shown in 46 subjects of group A and six subjects in group B - - India - - - - - STHAG1 abnormal number of permanent teeth (HP:00110440) MSX1 MSX1 1 46 Elaine Lustosa Mendes
00016431 - PubMed: De Muynck 2004 studied 55 patients with or without orofacial cleft with or without hypodontia; 2-generation family, 3 affected father, daughter/son (F, 2M) F;M ? Belgium - - - - - STHAG1 Abnormal number of teeth (HP:0006483) MSX1 MSX1 1 3 Elaine Lustosa Mendes
00016479 - PubMed: Liang 2012 studied four affected members of a chinese family and 88 controls. - yes China Chinese - - - - STHAG1 cleft lip, abnormal number of teeth (HP:0006483) MSX1, PAX9 MSX1 1 4 Elaine Lustosa Mendes
00016480 - PubMed: Kamamoto 2011 studied seven patients and 50 controls; 3-generation family, 4 affected (4F) F ? Japan Japanese - - - - STHAG1 abnormal number of teeth (HP:0006483) one or two missing permanent teeth, no orofacial cleft, no craniofacial abnormalities MSX1, PAX9 MSX1 1 4 Elaine Lustosa Mendes
00016487 - PubMed: Lidral 2002 studied 92 individuals (82 families) and 40 controls; large family, 16 affected - ? United States - - - - - STHAG1 tooth agenesis MSX1 MSX1 1 92 Elaine Lustosa Mendes
00016491 - PubMed: Mostowska 2012 4-generation family, 5 affected (2F, 4M) and 8unaffected F;M no Poland - - - - - STHAG1 Oligodontia (HP:0000677) MSX1, PAX9 MSX1 1 6 Elaine Lustosa Mendes
00016518 - PubMed: Chishti 2006 studied two distantly related families (five affected members and eight unaffected) and 100 controls. - yes Pakistan - - - - - STHAG1 abnormal number of teeth (HP:0006483) MSX1 MSX1 1 5 Elaine Lustosa Mendes
00016551 - PubMed: Mostowska 2006 Studied a family with one affected person and four unaffected and 180 controls. M no Poland - - - - - STHAG1 Abnormal number of teeth(HP:0006483) MSX1, PAX9 MSX1 1 1 Elaine Lustosa Mendes
00228781 - - - - - - - - - - - STHAG1 - MSX1 MSX1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00228900 - PubMed: Vastardis 1996 multi-generation family - - United States - - - - - STHAG1 agenesis second premolars and third molars MSX1 MSX1 1 1 Johan den Dunnen
00229548 family PubMed: Kim 2006 3-generation family, affected father/son/daughter F;M - United States - - - - - STHAG1 oligodontia MSX1 MSX1 1 3 Johan den Dunnen
00229553 family PubMed: Xuan 2008 3-generation family, 5 affected (F, 4M) F;M - China - - - - - STHAG1 oligodontia MSX1 MSX1 2 5 Johan den Dunnen
00229554 - PubMed: Li 2008 family, 7 affected - - China - - - - - STHAG1 oligodontia MSX1 MSX1 1 7 Johan den Dunnen
00229555 patient PubMed: Bergendal 2011 - F - Sweden - - - - - STHAG1 see paper; ..., oligodontia (18 missing teeth) MSX1 MSX1 1 1 Johan den Dunnen
00229556 patient PubMed: Bergendal 2011 - M - Sweden - - - - - STHAG1 see paper; ..., oligodontia (7 missing teeth) MSX1 MSX1 1 1 Johan den Dunnen
00229557 patient 1 PubMed: Pawlowska 2009 - M - Poland - - - - - STHAG1 see paper; ..., oligodontia MSX1 MSX1 2 1 Johan den Dunnen
00229558 patient 2 PubMed: Pawlowska 2009 - F - Poland - - - - - STHAG1 see paper; ..., oligodontia MSX1 MSX1 2 1 Johan den Dunnen
00326089 - - - - - - - - - - - STHAG1 - MSX1 MSX1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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