Disease #04275 (ICF3 (immunodeficiency-centromeric instability-facial anomalies syndrome, type 3 (ICF-3)))

Official abbreviation ICF3
Name immunodeficiency-centromeric instability-facial anomalies syndrome, type 3 (ICF-3)
OMIM ID -
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene CDCA7
Associated tissues -
Disease features -
Remarks -
Date created 2015-05-21 10:28:18 +02:00 (CEST)
Date last edited 2021-12-11 13:56:28 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00038729 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents M yes Turkey - 26y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration CDCA7 CDCA7 1 1 Peter Thijssen
00038730 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents (suspected consanguineous) F ? France - >17y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, myocarditis, peritonitis); IgG 0.31 g/l, IgA 0.05 g/l, IgM <0.06g/l CDCA7 CDCA7 1 1 Peter Thijssen
00038732 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F yes France - >37y - - - ICF3 no facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, mastoiditis, meningitis); IgG 2 g/l, IgA 0.27 g/l, IgM 0.25 g/l; cytogenetic abnormalities include stretching CDCA7 CDCA7 1 1 Peter Thijssen
00038733 - PubMed: Thijssen 2015 male from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents M yes Turkey - >10y - - - ICF3 facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis); IgG 2.32 g/l, IgA <0.07 g/l, IgM 0.03 g/l; cytogenetic abnormalities include stretching, breaking, decondensation CDCA7 CDCA7 1 2 Peter Thijssen
00038734 - PubMed: Thijssen 2015 female from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents F yes Turkey - >03y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, candida); IgG 1.11 g/l, IgA 0.06 g/l, IgM 0.04 g/l CDCA7 CDCA7 1 1 Peter Thijssen
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