Disease #00785 (CVD1;XMVD;EDS5 (dysplasia, valvular, cardiac, X-linked, type 1 (CVD-1, XMVD, EDS5)), OMIM:314400)

Official abbreviation CVD1;XMVD;EDS5
Name dysplasia, valvular, cardiac, X-linked, type 1 (CVD-1, XMVD, EDS5)
OMIM ID 314400
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 51
Phenotype entries for this disease 51
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00028774 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.III3,III5,III8,III11,III14 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028775 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 carrier FLNA FLNA 1 2 Yu Sun
00028776 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028777 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Father of 17190868.family1a.IV25,IV26 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028778 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.IV38 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028779 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.IV2,IV4 F - France - - 0 - - CVD1;XMVD;EDS5 obligate carrier FLNA FLNA 1 2 Yu Sun
00028780 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.IV44,IV45,IV46 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028781 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Father of 17190868.family1a.IV52 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028782 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Father of 17190868.family1a.IV10 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028783 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028784 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V9,V10,V11 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028785 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V12 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028786 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V1,V2 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028787 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V13,V15 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028788 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 carrier FLNA FLNA 1 2 Yu Sun
00028789 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028790 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 carrier FLNA FLNA 1 2 Yu Sun
00028791 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028792 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028793 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028794 - PubMed: Monteleone1969, PubMed: Kyndt 2007 - M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028795 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V26 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028796 - PubMed: Monteleone1969, PubMed: Kyndt 2007 Mother of 17190868.family1a.V7,V8 F - France - - 0 - - CVD1;XMVD;EDS5 carrier FLNA FLNA 1 2 Yu Sun
00028797 - PubMed: Monteleone1969, PubMed: Kyndt 2007 daughter of 17190868.family1a.IV2 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028798 - PubMed: Monteleone1969, PubMed: Kyndt 2007 son of 17190868.family1a.IV17 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028799 - PubMed: Monteleone1969, PubMed: Kyndt 2007 son of 17190868.family1a.IV17 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028800 - PubMed: Monteleone1969, PubMed: Kyndt 2007 daughter of 17190868.family1a.IV19 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028801 - PubMed: Monteleone1969, PubMed: Kyndt 2007 son of 17190868.family1a.IV21 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028802 - PubMed: Monteleone1969, PubMed: Kyndt 2007 son of 17190868.family1a.IV21 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028803 - PubMed: Monteleone1969, PubMed: Kyndt 2007 daughter of 17190868.family1a.IV2 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028804 - PubMed: Monteleone1969, PubMed: Kyndt 2007 daughter of 17190868.family1a.IV6 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028805 - PubMed: Monteleone1969, PubMed: Kyndt 2007 daughter of 17190868.family1a.IV17 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028806 - PubMed: Kyndt 2007 daughter of 17190868.family1b.I2 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028807 - PubMed: Kyndt 2007 son of 17190868.family1b.II5 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028808 - PubMed: Kyndt 2007 daughter of 17190868.family1b.II3 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028809 - PubMed: Kyndt 2007 daughter of 17190868.family1b.III6 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028810 - PubMed: Kyndt 2007 son of 17190868.family1b.III8 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028811 - PubMed: Kyndt 2007 son of 17190868.family1b.III8 M - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028812 - PubMed: Kyndt 2007 daughter of 17190868.family1b.III8 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028813 - PubMed: Kyndt 2007 daughter of 17190868.family1b.III10 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028814 - PubMed: Kyndt 2007 daughter of 17190868.family1b.III10 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028815 - PubMed: Kyndt 2007 daughter of 17190868.family1b.IV6 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028816 - PubMed: Kyndt 2007 daughter of 17190868.family1b.IV6 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028817 - PubMed: Kyndt 2007 daughter of 17190868.family1b.IV10 F - France - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028818 - {PMID8230166:Newbury-Ecob1993}, {PMID17190868:Kyndt2007} daughter of 17190868.family2.II2 F - United Kingdom (Great Britain) - - 0 - - CVD1;XMVD;EDS5 carrier FLNA FLNA 1 2 Yu Sun
00028819 - {PMID8230166:Newbury-Ecob1993}, {PMID17190868:Kyndt2007} son of 17190868.family2.III2 F - United Kingdom (Great Britain) - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 2 Yu Sun
00028820 - PubMed: Kyndt 2007 mother of 17190868.family3.II1 F - - - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028821 - PubMed: Kyndt 2007 son of 17190868.family3.I2 M - - - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028822 - PubMed: Kyndt 2007 mother of 17190868.family4.II1,II2 F - Hong Kong - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028823 - PubMed: Kyndt 2007 son of 17190868.family4.I2 M - Hong Kong - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
00028824 - PubMed: Kyndt 2007 son of 17190868.family4.I2 M - Hong Kong - - 0 - - CVD1;XMVD;EDS5 - FLNA FLNA 1 1 Yu Sun
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