Disease #00508

Official abbreviation ARCI-4A
Name ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A)
OMIM ID 601277
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 63
Phenotype entries for this disease 63
Associated with 1 gene ABCA12
Associated tissues -
Disease features -
Remarks -


Individuals

63 entries on 1 page. Showing entries 1 - 63.
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00019697 - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Bangladesh >2y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019698 - PubMed: Kelsell 2005 5-generation family, 7 affecteds (5F, 2M), unaffected carrier parents and sibs - yes United Kingdom (Great Britain) Pakistani >20y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 7 Marianne Vos (LOVD-team)
00019699 - PubMed: Kelsell 2005 - - - Bangladesh - >14y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019700 - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) India >8y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019701 - PubMed: Kelsell 2005 - - - Italy - >6y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019702 - PubMed: Kelsell 2005 - - - Italy - >6y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019703 - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Pakistani >2y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019704 - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Caucasian >4y 0 - - ARCI-4A harlequin ichthyosis (HI); severe ichthyosiform erythroderma ABCA12 ABCA12 3 1 Marianne Vos (LOVD-team)
00019705 - PubMed: Kelsell 2005 - - - United States African American 6m 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019706 - PubMed: Kelsell 2005 - - - Iran - 4m 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019707 - PubMed: Kelsell 2005 - - - United States native American, Navajo 00y00m02d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019708 - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Pakistani 3d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019709 - PubMed: Thomas 2006 - - - - Europe, North; Jewish, Ashkenazi >03y06m 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019710 - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Pakistani 2d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019711 - PubMed: Thomas 2006 - - - Pakistan Asian 13d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019712 - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Anglo-Saxon >16y 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019713 - PubMed: Thomas 2006 - - - ? (unknown) - - 0 - - ARCI-4A harlequin ichthyosis (HI), died neonatal ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019714 - PubMed: Thomas 2006 - - - Laos Hmong 01y06m 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019715 - PubMed: Thomas 2006 - - - ? (unknown) - 3d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019716 - PubMed: Thomas 2006 - - - Ireland Caucasian 2m 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019717 - PubMed: Thomas 2006 - - - Switzerland Caucasian 2d 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019718 - PubMed: Thomas 2006 - - - Egypt - >23y 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019719 - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Anglo-Saxon >01y06m 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019720 - PubMed: Thomas 2006 - - - Israel Jewish, Ashkenazi >03y06m 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019721 - PubMed: Thomas 2006 - - - United States Caucasian >12y 0 - - ARCI-4A harlequin ichthyosis (HI), severe ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019722 - PubMed: Thomas 2006 - - - United States native American, Navajo - 0 - - ARCI-4A harlequin ichthyosis (HI), died early neonatal ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019733 - PubMed: Thomas 2008 - - - Canada Caucasian - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019734 - PubMed: Thomas 2008 - - - ? (unknown) - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019735 - PubMed: Thomas 2008 - - - Syria - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019736 - PubMed: Thomas 2008 - - - France - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019737 - PubMed: Thomas 2008 - - - Switzerland - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019738 - PubMed: Thomas 2008 - - - Eritrea;Jamaica - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019739 - PubMed: Thomas 2008 - - - - Arab, Middle East - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019740 - PubMed: Thomas 2008 - - - - Scandinavia, Bosnian - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019741 - PubMed: Thomas 2008 variant detected in unaffected carrier parents - - United Kingdom (Great Britain) Pakistani - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019742 - PubMed: Thomas 2008 - - - Albania - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019743 - PubMed: Thomas 2008 - - - United Kingdom (Great Britain) Pakistani - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019744 - PubMed: Thomas 2008 mother Ireland/Poland, father Italy/Germany - - (Ireland);(Poland);(Italy);(Germany) - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019745 - PubMed: Castiglia 2009 - F - Italy - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019746 - PubMed: Natsuga 2007 - F - Japan - >37y 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019747 - PubMed: Natsuga 2007 - M - Japan - >42y 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019748 - PubMed: Akiyama 2006 - M - Japan - >01y06m 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019749 - PubMed: Akiyama 2005 4-generation family, 1 affected, unaffected carrier parents M yes Japan - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019750 - PubMed: Akiyama 2005 2-generation family, 1 affected, unaffected carrier parents M no Japan - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019751 - PubMed: Akiyama 2005 2-generation family, 2 affecteds (child and fetus), unaffected carrier parents M no Japan - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 2 2 Marianne Vos (LOVD-team)
00019752 - PubMed: Akiyama 2005 4-generation family, 1 affected, unaffected carrier parents F yes Japan - - 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019753 - PubMed: Akiyama 2008 - M no Japan - >2y 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019754 - PubMed: Sakai 2009 - - - Japan - - 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019755 - PubMed: Sakai 2009 - - - Japan - - 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019756 - PubMed: Sakai 2009 - - - Japan - - 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 2 1 Marianne Vos (LOVD-team)
00019757 - PubMed: Sakai 2009 - - - Japan - - 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019758 - PubMed: Sakai 2009 - - - Japan - - 0 - - ARCI-4A non-bullous congenital ichthyosiform erythroderma ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019759 - PubMed: Akiyama 2007 2-generation family, affected child and fetus - - France - - 0 - - ARCI-4A harlequin ichthyosis (HI)/congenital ichthyosiform erythroderma (CIE) ABCA12 ABCA12 2 2 Marianne Vos (LOVD-team)
00019762 - PubMed: Rajpar 2006 - M yes United Kingdom (Great Britain) Pakistani >05y06m 0 - - ARCI-4A harlequin ichthyosis (HI) ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019763 - PubMed: Lefevre 2003 2-generation family, 3 affecteds (F, 2M), unaffected carrier parents/sibs - yes Morocco - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 3 Marianne Vos (LOVD-team)
00019764 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Morocco - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019765 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents F yes Morocco - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019766 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Morocco - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019767 - PubMed: Lefevre 2003 2-generation family, 3 affecteds (3F), unaffected carrier parents/sibs F yes Algeria - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 3 Marianne Vos (LOVD-team)
00019768 - PubMed: Lefevre 2003 2-generation family, 3 affecteds (F, 2M), unaffected carrier parents/sibs - no Mali - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 2 3 Marianne Vos (LOVD-team)
00019769 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Algeria - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019770 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Algeria - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
00019771 - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents F yes Algeria - - 0 - - ARCI-4A lamellar ichthyosis type 2 ABCA12 ABCA12 1 1 Marianne Vos (LOVD-team)
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