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Last update 08 May 2025

Microcephalic Osteodysplastic Primordial Dwarfism, Type II

Last update 08 May 2025

Basic Info

Synonyms

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MOPD II, MOPD type II

+ [18]

Introduction

A rare bone disease and a form of microcephalic primordial dwarfism with characteristics of severe pre and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance and increased risk for cerebrovascular disease. Caused by mutations in PCNT (21q22.3), encoding pericentrin, which anchors a wide range of centrosomal proteins and protein complexes during cell division. Disruption of pericentrin is thought to cause mitotic spindle defects, and impaired cell proliferation. Transmission is autosomal recessive.

Clinical Trials associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type II

NCT03139903

/ CompletedNot ApplicableIIT

The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).

The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).

Start Date28 Jul 2010

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

NCT04569149

/ RecruitingNot ApplicableIIT

Primordial Registry at Nemours/A. I. duPont Hospital for Children

The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

Start Date11 Mar 2008

Sponsor / Collaborator

Nemours Children's Clinic

100 Clinical Results associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type II

100 Translational Medicine associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type II

0 Patents (Medical) associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type II

111

Literatures (Medical) associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type II

01 Dec 2023·JBMR Plus

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

Article

Author: Duker, Angela L ; Postell, Marjorie M ; Carroll, Ricki S ; O'Connell, David A ; Fawcett, Paul T ; Bober, Michael B ; Schelhaas, Andrea J

AbstractThe skeletal dysplasias are a heterogeneous group of genetic conditions caused by abnormalities of growth, development, and maintenance of bone and cartilage. Little is known about the roles that cytokines play in the inflammatory and non‐inflammatory pathophysiology of skeletal dysplasia. We sought to test our hypothesis that cytokines would be differentially expressed in children with skeletal dysplasia as compared to typically growing controls. Cytokine levels were analyzed using the Cytokine Human Magnetic 25‐Plex Panel (Invitrogen, Waltham, MA, USA); 136 growing individuals with skeletal dysplasia and compared to a cohort of 275 healthy pediatric control subjects. We focused on the expression of 12 cytokines across nine dysplasia cohorts. The most common skeletal dysplasia diagnoses were: achondroplasia (58), osteogenesis imperfecta (19), type II collagenopathies (11), multiple epiphyseal dysplasia (MED: 9), diastrophic dysplasia (8), metatropic dysplasia (8), and microcephalic osteodysplastic primordial dwarfism type II (MOPDII: 8). Of the 108 specific observations made, 45 (41.7%) demonstrated statistically significant differences of expression between controls and individuals with skeletal dysplasia. Four of the 12 analyzed cytokines demonstrated elevated expression above control levels in all of the dysplasia cohorts (interleukin 12 [IL‐12], IL‐13, interferon γ‐induced protein 10 kDa [IP‐10], regulated on activation, normal T cell expressed and secreted [RANTES]) and two demonstrated expression below control levels across all dysplasia cohorts (monocyte chemoattractant protein 1 [MCP‐1], macrophage inflammatory protein‐1β [MIP‐1β]). The highest levels of overexpression were seen in MOPDII, with expression levels of IP‐10 being increased 3.8‐fold (p < 0.0001). The lowest statistically significant levels of expressions were in type II collagenopathies, with expression levels of MCP‐1 being expressed 0.43‐fold lower (p < 0.005). With this data, we hope to lay the groundwork for future directions in dysplasia research that will enhance our understanding of these complex signaling pathways. Looking forward, validating these early trends in cytokine expression, and associating the observed variations with trends in the progression of dysplasia may offer new candidates for clinical biomarkers or even new therapeutics. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.

08 Nov 2023·JCI Insight

Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation

Article

Author: Guan, Pujun ; Wright, Jamie M ; Majumder, Suravi ; Buja, L Maximilian ; Milewicz, Dianna M ; Kwartler, Callie S ; Chattopadhyay, Abhijnan

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is caused by biallelic loss-of-function variants in pericentrin (PCNT), and premature coronary artery disease (CAD) is a complication of the syndrome. Histopathology of coronary arteries from patients with MOPDII who died of CAD in their 20s showed extensive atherosclerosis. Hyperlipidemic mice with smooth muscle cell-specific (SMC-specific) Pcnt deficiency (PcntSMC-/-) exhibited significantly greater atherosclerotic plaque burden compared with similarly treated littermate controls despite similar serum lipid levels. Loss of PCNT in SMCs induced activation of heat shock factor 1 (HSF1) and consequently upregulated the expression and activity of HMG-CoA reductase (HMGCR), the rate-limiting enzyme in cholesterol biosynthesis. The increased cholesterol biosynthesis in PcntSMC-/- SMCs augmented PERK signaling and phenotypic modulation compared with control SMCs. Treatment with the HMGCR inhibitor, pravastatin, blocked the augmented SMC modulation and reduced plaque burden in hyperlipidemic PcntSMC-/- mice to that of control mice. 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. The molecular mechanism uncovered further emphasizes SMC cytosolic stress and HSF1 activation as a pathway driving atherosclerotic plaque formation independently of cholesterol levels.

01 Sep 2023·Oral diseases

Hereditary dentin defects with systemic diseases.

Review

Author: Zhu, Yulong ; Zhu, Qinglin ; Wang, Xiangpu ; Duan, Xiaohong ; Su, Tongyu

OBJECTIVEThis review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.SUBJECTS AND METHODSReferences on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.RESULTSOver 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. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.CONCLUSIONSome specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.

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