Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation.
|
31510961 |
2019 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Critical homozygous or compound heterozygous variants in PCNT are a known cause of microcephalic osteodysplastic primordial dwarfism type II accompanied by mandibular hypoplasia, which is similar to the maxillofacial phenotype in this patient.
|
31311520 |
2019 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.
|
30531648 |
2019 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.
|
28409412 |
2017 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
|
26231886 |
2015 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner.
|
24705347 |
2014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
BEFREE |
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
|
24106199 |
2014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is caused by mutations in the centrosome gene pericentrin (PCNT) that lead to severe pre- and postnatal growth retardation.
|
25220058 |
2014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our cellular analysis shows that a pathogenic defect in CENP-E, a kinetochore-core protein, largely phenocopies PCNT-mutated microcephalic osteodysplastic primordial dwarfism-type II patient cells.
|
24748105 |
2014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the pericentrin (PCNT) gene cause Majewski osteodysplastic primordial dwarfism type II (MOPDII).
|
25291638 |
2014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
|
21270239 |
2011 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
|
21270239 |
2011 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
|
19643772 |
2010 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.
|
19643772 |
2010 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PCNT mutations must be considered diagnostic of MOPD II syndrome.
|
19839044 |
2009 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PCNT mutations must be considered diagnostic of MOPD II syndrome.
|
19839044 |
2009 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
|
18174396 |
2008 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
|
18174396 |
2008 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
|
18174396 |
2008 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
|
15368497 |
2004 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|