Disease #00119 (DKC (dyskeratosis congenita (DKC)))

Official abbreviation DKC
Name dyskeratosis congenita (DKC)
OMIM ID -
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 19
Associated with 1 gene CTC1
Associated tissues -
Disease features -
Remarks -
Date created 2013-03-14 10:08:13 +01:00 (CET)
Date last edited 2015-12-08 23:54:35 +01:00 (CET)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00000397 - PubMed: Keller 2012 - F - (United States) - >18y - - - DKC - CTC1 CTC1 2 1 Anne Polvi
00000398 - PubMed: Walne 2013 1:II-1 F - (United Kingdom (Great Britain)) - 22y - - - DKC - CTC1 CTC1 2 1 Anne Polvi
00000399 - PubMed: Walne 2013 2:II-1 M - United Kingdom (Great Britain) - >12y - - - DKC - CTC1 CTC1 2 1 Anne Polvi
00000400 - PubMed: Walne 2013 5:II-3 M - (United Kingdom (Great Britain)) - >24y - - - DKC - CTC1 CTC1 2 1 Anne Polvi
00105076 ? PubMed: Du 2009 - - - - - - - - - DKC dyskeratosis congenita TERC TERC 1 1 Johan den Dunnen
00105110 ? PubMed: Dokal and Vulliamy 2003 - - - - - - - - - DKC dyskeratosis congenita TERC TERC 1 1 Johan den Dunnen
00105118 ? PubMed: Vulliamy 2006 - - - - - - - - - DKC dyskeratosis congenita TERC TERC 1 1 Johan den Dunnen
00105121 ? PubMed: Jongmans 2012 - - - - - - - - - DKC dyskeratosis congenita TERC TERC 1 1 Johan den Dunnen
00105129 ? PubMed: Vulliamy 2011 - - - - - - - - - DKC dyskeratosis congenita TERC TERC 1 1 Johan den Dunnen
00415156 Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - DKC 1y-abnormalities in skin pigmentation; 1y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections in first year, intrauterine growth restriction, gastro-oesophageal reflux, failure to thrive ENOSF1, TYMS TYMS 4 1 Johan den Dunnen
00415157 Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - DKC 1d-abnormalities in skin pigmentation; 1d-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA/IgG; reduction of fingerprints ENOSF1, TYMS ENOSF1, TYMS 5 1 Johan den Dunnen
00415158 Fam3 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - DKC 1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections first year ENOSF1, TYMS ENOSF1, TYMS 5 1 Johan den Dunnen
00415159 Fam4PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - DKC 1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; anemia (98 g/L), other blood counts normal; low IgA; short stature, recurrent respiratory/gastro-intestinal infections first year ENOSF1, TYMS TYMS 4 2 Johan den Dunnen
00415160 Fam4PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - United Kingdom (Great Britain) - - - - - DKC 1y-abnormalities in skin pigmentation; nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA; abnormal teeth ENOSF1, TYMS C18orf56, TYMS 5 1 Johan den Dunnen
00415161 Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - DKC 1y-abnormalities in skin pigmentation; 5y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; bilateral ptosis, tooth discolouration, intermediate increased response to mitomycin-C, basal carcinoma chest, squamous carcinoma and melanoma on leg, severe response to topical 5-FU treatment ENOSF1, TYMS ENOSF1, TYMS 6 1 Johan den Dunnen
00415162 Fam6 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - DKC 1d-abnormalities in skin pigmentation; 2y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; no immune defects; abnormal facies, dysphagia, microcephaly. ENOSF1, TYMS ENOSF1, TYMS 2 1 Johan den Dunnen
00415163 Fam7 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - DKC 1y-abnormalities in skin pigmentation; 2y-nail dystrophy; no leukoplakia; no hematological abnormalities; low IgA; epiphora, small testes; short stature ENOSF1, TYMS TYMS 1 1 Johan den Dunnen
00415164 Fam8PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 2 affected sistesr, unaffected heterozygous carrier parents F - Germany - - - - - DKC 6y-abnormalities in skin pigmentation; 6y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities ENOSF1, TYMS TYMS 2 2 Johan den Dunnen
00415165 Fam8PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - Germany - - - - - DKC abnormalities in skin pigmentation; nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities ENOSF1, TYMS TYMS 1 1 Johan den Dunnen
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