Disease #05659 (TDH (thyroid dyshormonogenesis (TDH)))

Official abbreviation TDH
Name thyroid dyshormonogenesis (TDH)
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 12
Associated with 1 gene IYD
Associated tissues -
Disease features -
Remarks -
Date created 2019-10-15 02:53:08 +02:00 (CEST)
Date last edited N/A


Individuals

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00311015 FamPatII1 PubMed: Fujiwara 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Japan - - - - - TDH see paper; ..., SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311017 patient PubMed: Matsuda 1997 4-generation family, 1 affected, unaffected parents M yes Japan - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311019 patient PubMed: Pohlenz 1997 3-generation family, 1 affected, unaffected heterozygous carrier mother/son M - Brazil - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311021 patient 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives PubMed: Pohlenz 1998 F no - mexico, Hispanic - - - - TDH see paper; ... SLC5A5 SLC5A5 2 1 Johan den Dunnen
00311024 FamAPat1 PubMed: Kosugi 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - TDH see paper; ... SLC5A5 SLC5A5 2 1 Johan den Dunnen
00311025 FamBPat2 PubMed: Kosugi 1998 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311027 family PubMed: Kosugi 1999 large 6-generation family, 16 affected (11F, 5M) F;M yes Canada Hutterite - - - - TDH - SLC5A5 SLC5A5 1 16 Johan den Dunnen
00311032 Family PubMed: Kosugi 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier mother/relatives F;M - Spain - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 2 Johan den Dunnen
00311050 patient PubMed: Tonacchera 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311053 patient PubMed: Montanelli 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Italy - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311054 patient PubMed: Szinnai 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Cameroon - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
00311057 family PubMed: Fujiwara 2000 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M ? Japan - - - - - TDH see paper; ... SLC5A5 SLC5A5 2 1 Johan den Dunnen
00311058 patient PubMed: Nicola 2011 2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives M - Argentina - - - - - TDH see paper; ... SLC5A5 SLC5A5 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.