Disease #00434

Official abbreviation VWS-1
Name Van Der Woude syndrome, type 1 (VWS-1)
OMIM ID 119300
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene IRF6
Associated tissues -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00017615 - PubMed: Peyrard_Janvid 2014, PubMed: Koillinnen 2001 4 generation family, 22 subjects, 11 affected, 2 carriers - ? Finland Finnish - 0 - - VWS-1 7 CLeft Pallate, 1 Lip Pits, 1 Cleft Lip+Pallate, 2 Submuous Cleft Pallate, 2 unaffected carriers GRHL3, KTI12, PHACTR4 GRHL3, KTI12, PHACTR4 3 22 Marianne Vos (LOVD-team)
00017616 - PubMed: Peyrard-Janvid 2014 2 generation family, 1 affected - no Philippines Phillipines - 0 - - VWS-1 cleft lip/pallate, lip pits GRHL3 GRHL3 1 1 Marianne Vos (LOVD-team)
00017617 - PubMed: Peyrard-Janvid 2014 4 generation family, 4 affecteds, 1 unaffected carrier - ? Israel Israëli - 0 - - VWS-1 2 cleft pallate, 3 Lip Pits, 2 Submuous Cleft Pallate, 2 toes syndactylly (2nd and 3th toes) GRHL3 GRHL3 2 5 Marianne Vos (LOVD-team)
00017618 - PubMed: Peyrard-Janvid 2014 2 generation family, 1 affected - no Pakistan Pakistani - 0 - - VWS-1 unknown phenotype parents; cleft lip/pallet, lip pits GRHL3, IRF6 GRHL3, IRF6 2 1 Marianne Vos (LOVD-team)
00017619 - PubMed: Peyrard-Janvid 2014 7 generation family, 12 affected, 5 deceased - ? United Kingdom (Great Britain) (British) - 0 - - VWS-1 5 lip pits, 3 Uvula Anomaly, 1 Bifid Uvula, 4 Cleft Pallate, 1 Lip Mounds, 1 Anodontia GRHL3 GRHL3 1 12 Marianne Vos (LOVD-team)
00017620 - PubMed: Peyrard-Janvid 2014 2 generation family, 1 affected ? ? United States (American) - 0 - - VWS-1 lip pits GRHL3 GRHL3 1 1 Marianne Vos (LOVD-team)
00017621 - PubMed: Peyrard-Janvid 2014 2-generation family, 1 affected - ? Sweden (Swedish) - 0 - - VWS-1 lip pits, cleft pallate GRHL3 GRHL3 1 1 Marianne Vos (LOVD-team)
00017622 - PubMed: Peyrard-Janvid 2014 2 generation family, 1 affected, 1 unaffected carrier - ? United States African American - 0 - - VWS-1 cleft pallate, Lateral Synechia, Oculocutaneous Albinism, Light Pigmentation, Mild Micrognathia, Chronic Pulmonary Problems, Gastric Reflux, Nystagmus GRHL3 GRHL3 1 2 Marianne Vos (LOVD-team)
00235379 - - - - - - - - 0 - - VWS-1 - IRF6 IRF6 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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