Type II Microcephalic Osteodysplastic Primordial Dwarfism

A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (OMIM: 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild INTELLECTUAL DISABILITY. Mutations in the PCNT gene have been identified. OMIM: 210720

Also Known As:

Microcephalic Osteodysplastic Primordial Dwarfism, Type II; MOPD II; Majewski Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities; Microcephalic osteodysplastic primordial dwarfism, type 2; Mopd2; MopdII; Osteodysplastic Primordial Dwarfism Type Ii; Osteodysplastic Primordial Dwarfism, Type II; Osteodysplastic primordial dwarfism, type 2

Networked: 33 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Type II Microcephalic Osteodysplastic Primordial Dwarfism
2.	Microcephaly
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Dwarfism
5.	Hypophosphatemic Rickets

Experts

1.	Rauch, Anita: 5 articles (09/2014 - 02/2008)
2.	Bober, Michael B: 4 articles (01/2021 - 11/2012)
3.	Duker, Angela L: 3 articles (01/2021 - 11/2012)
4.	Niiler, Tim: 2 articles (01/2021 - 11/2012)
5.	Doxsey, Stephen: 2 articles (02/2019 - 10/2014)
6.	Hung, Hui-Fang: 2 articles (02/2019 - 10/2014)
7.	Jackson, Andrew P: 2 articles (01/2017 - 11/2012)
8.	Jurczyk, Agata: 2 articles (10/2014 - 07/2010)
9.	Wise, Carol: 2 articles (10/2014 - 11/2012)
10.	Thiel, Christian T: 2 articles (06/2011 - 02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type II Microcephalic Osteodysplastic Primordial Dwarfism:

1.	pericentrinIBA 12/19/2021 - "A genetic study identified a mutation in both alleles of the pericentrin (PCNT) gene, enabling the diagnosis of microcephalic osteodysplastic primordial dwarfism type II. CONCLUSIONS This case highlights the importance of identifying the cause of short stature in children and genetic syndromes that may be linked with other abnormalities. " 01/01/2021 - "Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene. " 07/31/2023 - "Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII. " 01/01/2021 - "We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. " 01/01/2019 - "Microcephalic osteodysplastic primordial dwarfism type II syndrome is a rare, autosomal recessive disease that occurs as a result of the mutations in the pericentrin (PCNT) gene that are responsible for cell cycle and division. "
2.	Proteins (Proteins, Gene)FDA Link 10/06/2014 - "Not only do these data reveal a spindle-pole-localized complex for spindle orientation, but they identify key spindle symmetry proteins involved in the pathogenesis of MOPDII." 08/01/2014 - "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. " 02/01/2011 - "MOPD II is caused by autosomal recessive loss of function mutations in the PCNT gene encoding for a key centrosomal protein. " 12/01/2015 - "In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling. " 01/01/2020 - "PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). "
3.	Centrosomal Associated ProteinsIBA 06/01/2011 - "The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. " 01/01/2011 - "Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal proteins. "
4.	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 11/08/2023 - "These data support the notion that Pcnt deficiency activates cellular stress to increase SMC modulation and plaque burden, and targeting this pathway with statins in patients with MOPDII has the potential to reduce CAD in these individuals. "
5.	Vitamin D FDA LinkGeneric 09/01/2023 - "Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. "
6.	RNA (Ribonucleic Acid)IBA 07/31/2023 - "In this paper we report the results both the RNA sequencing and ES of three patients affected by MOPDII with the aim of exploring whether differentially expressed genes and previously uncharacterized gene variants, in addition to PCNT pathogenic variants, could be associated with the complex phenotype of this disease. "
7.	InterferonsIBA 02/22/2019 - "Similar to MOPDII, either viral infection or interferon (IFN)-α exposure reduced PCNT levels at the mitotic spindle poles. "
8.	Insulin-Like Growth Factor I (IGF-1)IBA 01/01/2013 - "rhIGF-1 treatment does not seem to be able to replace the physiological action of IGF-1 in patients with MOPD II and hepatic insufficiency, however, it seems to preserve the typical growth pattern of MOPD II patients, avoiding a further widening of the growth deficiency in these subjects."
9.	Insulin (Novolin)FDA Link 01/01/2013 - "Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency."