|
Short Stature, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Intellectual Disability
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
EMG: myopathic abnormalities
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Narrow nasal bridge
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
|
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
|
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
|
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 |
|
Congenital anomaly of brain
|
0.050 |
Biomarker
|
group |
BEFREE |
Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.
|
9771712 |
1998 |
|
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
MGD |
Zic2 regulates the kinetics of neurulation.
|
10677508 |
2000 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.
|
10677508 |
2000 |
|
Congenital Abnormality
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans.
|
10677508 |
2000 |
|
Spina Bifida
|
0.040 |
Biomarker
|
disease |
BEFREE |
Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.
|
10677508 |
2000 |
|
Deformity
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans.
|
10677508 |
2000 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients.
|
10710230 |
2000 |
|
Congenital Abnormality
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients.
|
10710230 |
2000 |
|
Congenital defects
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients.
|
10710230 |
2000 |
|
Small cell carcinoma of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
SOX group B and ZIC2 antigens elicited serological responses in 30-40% of SCLC patients in this series, at titers up to 1:10(6).
|
10760287 |
2000 |
|
HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
|
11285244 |
2001 |
|
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 |
|
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 |
|
Nonsyndromic Holoprosencephaly
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We report on the prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes.
|
11285244 |
2001 |
|
Congenital anomaly of face
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Although severe facial anomalies are common in HPE, all of the patients with ZIC2 mutations had relatively normal faces, suggesting that ZIC2 mutations represent a large proportion of HPE cases without facial malformation.
|
11285244 |
2001 |
|
Holoprosencephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
|
11479728 |
2001 |
|
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since human ZIC2 haploinsufficiency is a cause of holoprosencephaly, the Zic2kd/kd mice are regarded as an animal model for holoprosencephaly in humans.
|
11699604 |
2001 |