Disease #01268 (MECD (dystrophy, corneal, Meesmann))

Official abbreviation MECD
Name dystrophy, corneal, Meesmann
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 2 genes KRT12, KRT3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-11-12 12:00:32 +01:00 (CET)


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00441770 FamPatIII1 PubMed: Szaflik 2008 3-generation family, 4 affected (2F, 2M) M - Poland - - - - - MECD see paper; ... KRT12, KRT3 KRT12, KRT3 3 4 Johan den Dunnen
00441771 Fam1 PubMed: Chen 2005 2-generation family, affected mother/son F;M - Taiwan - - - - - MECD see paper; ... KRT3 KRT3 1 2 Johan den Dunnen
00441772 FamK PubMed: Irvine 1997 4-generation family, 5 affected (F, 4M) F;M - Northern Ireland - - - - - MECD see paper; ... KRT3 KRT3 1 5 Johan den Dunnen
00441773 FamM PubMed: Irvine 1997 5-generation family, 27 affected (16F, 11M) F;M - Germany - - - - - MECD see paper; ... KRT12 KRT12 1 27 Johan den Dunnen
00441774 FamD PubMed: Irvine 1997 4-generation family, 3 affected (2F, M) F;M - Northern Ireland - - - - - MECD see paper; ... KRT12 KRT12 2 3 Johan den Dunnen
00441775 Fam2 PubMed: Chen 2005 2-generation family, affected mother/daughter/2 sons F;M - Taiwan - - - - - MECD see paper; ... KRT12, KRT3 KRT12 1 4 Johan den Dunnen
00441776 FamNM PubMed: Nishida 1997 2-generation family, 6 affected (F, 5M) F;M - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 6 Johan den Dunnen
00441777 FamKE PubMed: Nishida 1997 2-generation family, 3 affected (2F, M) F;M - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 3 Johan den Dunnen
00441778 FamTM PubMed: Nishida 1997 2-generation family, affected mother/son F;M - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 2 Johan den Dunnen
00441779 PatFM PubMed: Nishida 1997 - - - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 1 Johan den Dunnen
00441780 family PubMed: Coleman 1999 2-generation family, affected father/2 sons M - United States white - - - - MECD see paper; ... KRT12 KRT12 1 3 Johan den Dunnen
00441781 Fam1 PubMed: Corden 2000 3-generation family, 8 affected (4F, 4M) F;M - United States America-N;white - - - - MECD see paper; ... KRT12 KRT12 1 8 Johan den Dunnen
00441782 Fam2 PubMed: Corden 2000 5-generation family, 12 affected (5F, 7M) - - United States Germany;white - - - - MECD see paper; ... KRT12 KRT12 1 12 Johan den Dunnen
00441783 Fam1 PubMed: Corden 2000 4-generation family, 7 affected (3F, 4M) F;M - Germany - - - - - MECD see paper; ... KRT12 KRT12 1 7 Johan den Dunnen
00441784 Fam PubMed: Irvine 2002 2-generation family, 3 affected - - - - - - - - MECD see paper; ... KRT12 KRT12 1 3 Johan den Dunnen
00441785 Fam PubMed: Takahashi 2002 3-generation family, 3 affected (2F, M) F;M - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 3 Johan den Dunnen
00441786 FamB PubMed: Yoon 2004 2-generation family, affected mother/2 daughters F - United States white - - - - MECD see paper; ... KRT12 KRT12 1 3 Johan den Dunnen
00441787 FamA PubMed: Yoon 2004 2-generation family, 1 affected, unaffected non-carrier parents F - United States Japan - - - - MECD see paper; ... KRT12 KRT12 1 1 Johan den Dunnen
00441788 - PubMed: Nichini 2005 4-generation family, 8 affected (4F, 4M) F;M - Switzerland - - - - - MECD see paper; ... KRT12 KRT12 1 8 Johan den Dunnen
00441789 patient PubMed: Nichini 2005 - - - United States - - - - - MECD see paper; ... KRT12 KRT12 1 1 Johan den Dunnen
00441790 - PubMed: Sullivan 2007 5-generation family, 17 affected (8F, 9M) F;M - United States - - - - - MECD see paper; ... KRT12 KRT12 1 17 Johan den Dunnen
00441791 - PubMed: Nielsen 2008 3-generation family, 6 affected (2F, 4M) F;M - Denmark - - - - - MECD see paper; ... KRT12 KRT12 3 6 Johan den Dunnen
00441792 family PubMed: Terrinoni 2000 2-generation family, affected father/daughter F;M - Japan - - - - - MECD see paper; ... KRT12 KRT12 1 2 Johan den Dunnen
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