Disease #01739 (CSNU (cystinuria (CSNU)), OMIM:220100)

Official abbreviation CSNU
Name cystinuria (CSNU)
OMIM ID 220100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 11
Associated with 2 genes SLC3A1, SLC7A9
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00311072 020 - - M yes - - - - - - CSNU - SLC3A1 SLC3A1 1 1 Malak Alghamdi
00311075 003 - - M yes - - - - - - CSNU - SLC3A1 SLC3A1 1 1 Malak Alghamdi
00311084 007 - - M - - - - - - - CSNU - SLC7A9 SLC7A9 1 1 Malak Alghamdi
00454656 Fam1PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 36w cesarean section (breech), weight 2,6g, length 44cm; <9y-puberty PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
00454657 Fam2PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 41w induction, weight 3,51g, length 50.5cm; <9y-puberty PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
00454658 Fam8PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - France - - - - - CSNU see paper; ..., birth 41w, weight 3,97g, length 52cm PREPL, SLC3A1 PREPL, SLC3A1 1 2 Johan den Dunnen
00454659 Fam3PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section (breech), weight 3,6g, length 50cm; 13.1y-puberty PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
00454660 Fam7PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w induction, weight 2,8g, length 49cm; 13.4y-puberty PREPL, SLC3A1 PREPL, SLC3A1 2 2 Johan den Dunnen
00454661 Fam6PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth weight 3,5 PREPL, SLC3A1 PREPL, SLC3A1 2 1 Johan den Dunnen
00454662 Fam7PatII PubMed: Jaeken 2006 relative F - Belgium - - - - - CSNU see paper; ..., birth 40w, weight 2,89g; 12.5y-puberty PREPL, SLC3A1 PREPL, SLC3A1 2 1 Johan den Dunnen
00454663 Fam4PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section, weight 3,25g, length 52cm; 13.7y-puberty PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
00454664 Fam8PatII PubMed: Jaeken 2006 relative F - France - - - - - CSNU see paper; ..., birth 41w, weight 2,88g, length 49cm; primary amenorrea PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
00454665 Fam9PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - CSNU see paper; ..., birth 41w, weight 3,45g, length 51cm; 15y-puberty PREPL, SLC3A1 PREPL, SLC3A1 2 1 Johan den Dunnen
00454666 Fam5PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth weight 1,91g; 5y-puberty PREPL, SLC3A1 PREPL, SLC3A1 1 1 Johan den Dunnen
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