ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease CLINVAR Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. 19955556 2010
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease CLINVAR The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. 19177455 2009
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. 11285244 2001
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. 15590697 2005
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. 19177455 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.520 GeneticVariation disease BEFREE Zic2 hypomorphic mutant mice exhibit schizophrenia-related behavioral abnormalities such as cognitive dysfunction and impaired sensorimotor gating and social behaviors, and ZIC2 mutations found in schizophrenia patients included a severely functionally defective one. 29442325 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3). 20104604 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease LHGDN Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. 9771712 1998
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE The central nervous system malformations seen in patients with ZIC2 mutations ranged from alobar HPE (most common) to middle interhemispheric fusion defect (one case). 11285244 2001
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Furthermore, the studies confirm the extent of ZIC2 allelic heterogeneity and that pathogenic variants of ZIC2 are associated with both classic and middle interhemispheric variant (MIHV) HPE which arise from defective ventral and dorsal forebrain patterning, respectively. 29442327 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE ZIC2 (13q32) was the second gene identified in which mutations cause HPE and recently a specific phenotype was ascribed to ZIC2-mutation HPE. 21496007 2012
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Mutation of Zic2 causes HPE via a transient defect in the function of the organizer region at mid-gastrulation which causes an arrest in the development of the prechordal plate (PCP), a structure required for forebrain midline morphogenesis. 18617531 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE The most severe HPE types were associated with SIX3 and ZIC2 mutations, whereas microforms were associated with SHH mutations. 21940735 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE We report the comparison of ZIC2 molecular findings by Sanger bidirectional DNA sequencing and ad hoc genotyping in a cohort of 105 Brazilian patients within the clinical spectrum of HPE, including classic and microform groups. 22847929 2012
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. 30894326 2020
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE In order to improve the molecular characterization of 13q monosomy, 12 new patients (9 foetuses and 3 children) were collected based on a cohort of holoprosencephaly (HPE) linked to ZIC2 gene deletion and/or patients with 13q deletion diagnosed by standard karyotype. 19022413 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 11479728 2001
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Variant forms of the ZIC2 protein, associated with HPE in man or mouse, are deficient in their ability to influence SMAD-dependent transcription. 27466203 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE These findings suggest that this particular type of holoprosencephaly may be related to ZIC2 gene loss of function. 11910512 2002
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Here we present a rare unilateral nasal cleft (Tessier cleft n. 1) with holoprosencephaly in a patient with a ZIC2 mutation. 24677696 2014
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE 3D-imaging of novel mouse Zic2 mutants uncovers, in addition to HPE, laterality defects in lungs, heart, vasculature and viscera. 29992973 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE This region of ZIC2 contains an alanine-tract, and expansion of this domain is associated with HPE. 15590697 2005