Disease #00748 (TTD (trichothiodystrophy (TTD)))

Official abbreviation TTD
Name trichothiodystrophy (TTD)
OMIM ID -
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 19
Associated with 4 genes ERCC2, ERCC3, GTF2H5, MPLKIP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2015-09-10 12:13:45 +02:00 (CEST)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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     
00049514 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 1 - - TTD brittle hair, ichtyosis GTF2E2 GTF2E2 1 1 Johan den Dunnen
00181520 R_2696 - - M no Poland white >00y04m - - - TTD - - GTF2H5 2 1 Rafał Płoski
00260763 FamPatIV2/IV5 PubMed: Corbett 2015 5-generation family, 2 affected nephews (2M), unaffected heterozygous carrier females M no Australia - - - - - TTD see paper; ..., severe trichothiodystrophy, intrauterine growth restriction, progressive microcephaly, profound intellectual disability, genital anomalies (absent or rudimentary testes with microphallus), severe linear growth failure (normal growth hormone production): all 3 obligate carriers short stature RNF113A RNF113A 1 1 Johan den Dunnen
00260764 FamA PubMed: Nakabayashi 2005 3-generation family, 7 affected 5F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260765 FamB PubMed: Nakabayashi 2005 2-generation family, 2 affected (F, M), unaffected heterozygous carrier mother/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260766 FamC PubMed: Nakabayashi 2005 2-generation family, 1 affected (M), unaffected parents M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260767 FamD PubMed: Nakabayashi 2005 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260768 FamE PubMed: Nakabayashi 2005 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260769 FamMor PubMed: Nakabayashi 2005 family, several affected siblings - - Morocco - - - - - TTD see paper; …, mental retardation, decreased fertility MPLKIP MPLKIP 1 1 Johan den Dunnen
00260770 Pat PubMed: Nakabayashi 2005 - - - Italy - - - - - TTD see paper; …, mental retardation, decreased fertility, severe nervous-system impairment MPLKIP MPLKIP 1 1 Johan den Dunnen
00260771 TTD5PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, moderate severity MPLKIP MPLKIP 1 1 Johan den Dunnen
00260772 TTD16PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, severe MPLKIP MPLKIP 1 1 Johan den Dunnen
00260773 TTD31PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, moderate severity MPLKIP MPLKIP 2 1 Johan den Dunnen
00260774 TTD1MA PubMed: Botta 2007 - F - Kuwait India - - - - TTD see paper; …, severe MPLKIP MPLKIP 1 1 Johan den Dunnen
00260775 TTD10RO PubMed: Botta 2007 - M - Iraq - - - - - TTD see paper; …, moderate severity MPLKIP MPLKIP 1 1 Johan den Dunnen
00260776 TTD11RO PubMed: Botta 2007 - F - Netherlands - - - - - TTD see paper; …, moderate severity MPLKIP MPLKIP 1 1 Johan den Dunnen
00260777 FamPat PubMed: Swagemakers 2014 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Netherlands - - - - - TTD see paper; ..., ERCC2, MPLKIP ERCC2, MPLKIP 2 2 Johan den Dunnen
00260778 PatTTD18PV PubMed: Theil 2019, Journal: Theil 2019 - - no Italy - - - - - TTD see paper; ..., hair fractures (trichoschisis), hair alternating light/dark banding pattern (tiger tail), no sun-sensitive skin, ichthyosis, follicular keratosis, delayed physical development, recurrent infections respiratory tract, acromandibular dysplasia TARS TARS 2 1 Johan den Dunnen
00260779 PatTTD5VI PubMed: Theil 2019, Journal: Theil 2019 - F - Netherlands - - - - - TTD see paper; ..., abnormal structure hair shaft (tiger-tail) banding pattern, born encased in tight, shiny membrane (collodion baby), ichthyosis TARS TARS 1 1 Johan den Dunnen
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.