type 1 Microcephalic osteodysplastic primordial dwarfism

A severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including INTELLECTUAL DISABILITY, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood. Mutations in the RNU4ATAC gene have been identified. OMIM: 210710

Also Known As:

Microcephalic osteodysplastic primordial dwarfism, type 1; Brachymelic primordial dwarfism; Cephaloskeletal dysplasia; Low-birth-weight dwarfism with skeletal dysplasia; Microcephalic Osteodysplastic Primordial Dwarfism, Type I; Mopd; Mopd 1; Mopd I; Mopd1; MopdI; Osteodysplastic Primordial Dwarfism, Type I; Osteodysplastic primordial dwarfism, type 1; Taybi Linder syndrome; Taybi-Linder Syndrome

Networked: 21 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Respiratory Tract Infections (Respiratory Tract Infection)
2.	Intracranial Hemorrhages (Intracranial Hemorrhage)
3.	Oculocutaneous Albinism (Albinism, Yellow Mutant)
4.	Chilblains (Chilblain)
5.	type 1 Microcephalic osteodysplastic primordial dwarfism

Experts

1.	Edery, Patrick: 3 articles (01/2020 - 04/2011)
2.	Leutenegger, Anne-Louise: 3 articles (01/2020 - 04/2011)
3.	Padgett, Richard A: 3 articles (01/2020 - 04/2011)
4.	Abdel-Hamid, Mohamed S: 3 articles (08/2013 - 11/2011)
5.	Abdel-Salam, Ghada M H: 3 articles (08/2013 - 11/2011)
6.	Benoit-Pilven, Clara: 2 articles (01/2020 - 01/2019)
7.	Besson, Alicia: 2 articles (01/2020 - 01/2019)
8.	Cologne, Audric: 2 articles (01/2020 - 01/2019)
9.	Lacroix, Vincent: 2 articles (01/2020 - 01/2019)
10.	Mazoyer, Sylvie: 2 articles (01/2020 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1 Microcephalic osteodysplastic primordial dwarfism:

1.	Anti-Bacterial Agents (Antibiotics)IBA 12/01/2023 - "Disruption of the biofilm architecture is associated with altered macroscopic and microscopic moduli, rapid vector permeability, increased antibiotic susceptibility, and improved mucociliary transport, suggesting that biofilm modulating therapeutics will improve the treatment of chronic respiratory infections in MOPD."
2.	Retinaldehyde (Retinal)IBA 08/01/2013 - "This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. "
3.	Small Nuclear RNA (snRNA)IBA 01/01/2020 - "Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. " 01/01/2019 - "Indeed, biallelic mutations in RNU4ATAC, transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformation disorders named Taybi-Linder (TALS/MOPD1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes, which associate numerous overlapping signs of varying severity. " 07/01/2014 - "Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal U4atac snRNA, cause the developmental disorder, MOPD I/TALS. " 08/01/2012 - "Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. " 06/01/2012 - "Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. "
4.	Small Nuclear Ribonucleoproteins (snRNP)IBA 01/01/2023 - "Here, we used lymphoblastoid cells derived from RNU4ATAC compound heterozygous (g.108_126del;g.111G>A) twin patients with MOPD1 phenotypes to analyze the molecular consequences of the mutations on small nuclear ribonucleoproteins (snRNPs) formation and on splicing. " 07/01/2014 - "In this report, we establish a mechanistic basis for MOPD I disease and show that the inefficient splicing of genes containing U12-dependent introns in patient cells is due to defects in minor tri-snRNP formation, and the MOPD I-associated RNU4ATAC mutations can affect multiple facets of minor snRNA function. " 07/01/2014 - "Analysis of MOPD I patient fibroblasts and iPS cells homozygous for the most common mutation, 51G>A, shows reduced levels of the U4atac/U6atac.U5 tri-snRNP complex as determined by glycerol gradient sedimentation and immunoprecipitation. " 12/01/2018 - "Moreover, an analysis of all RNU4ATAC variants reported so far showed that FitCons scores for nucleotides mutated in the more severe MOPD are higher than RS or LWS and that they were more frequently located in the 5' Stem-Loop of the RNA critical for the formation of the U4/U6.U5 tri-snRNP complex, whereas the variants are more dispersed in the other conditions. "
5.	Proteins (Proteins, Gene)FDA Link 01/01/1995 - "These include the MopD and MopE proteins from Erwinia carotovora, the Spa9 and Spa29 proteins from Shigella flexneri, and the YscS protein from Yersinia pestis. " 10/01/2020 - "MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. " 08/01/1997 - "MopA, MopB, MopC, MopD, and MopE (Methylococcus outer membrane protein) are proposed to designate these proteins. "
6.	RNA (Ribonucleic Acid)IBA 01/01/2018 - "Four distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide, occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1. " 12/01/2018 - "Moreover, an analysis of all RNU4ATAC variants reported so far showed that FitCons scores for nucleotides mutated in the more severe MOPD are higher than RS or LWS and that they were more frequently located in the 5' Stem-Loop of the RNA critical for the formation of the U4/U6.U5 tri-snRNP complex, whereas the variants are more dispersed in the other conditions. "
7.	NucleotidesIBA 01/01/2018 - "Four distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide, occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1. " 12/01/2018 - "Moreover, an analysis of all RNU4ATAC variants reported so far showed that FitCons scores for nucleotides mutated in the more severe MOPD are higher than RS or LWS and that they were more frequently located in the 5' Stem-Loop of the RNA critical for the formation of the U4/U6.U5 tri-snRNP complex, whereas the variants are more dispersed in the other conditions. "
8.	pericentrinIBA 04/01/2011 - "MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. " 10/01/2020 - "MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. "
9.	Macular PigmentIBA 12/01/2022 - "Mean values for MOPD, maximal MOPD, macular pigment (MP) area and MP volume were 0.13 ± 0.04 d.u. "
10.	HydrogelsIBA 03/27/2012 - "Groups included RGD control hydrogel (RGD), RGD and BMP peptides without OPD (RGD+BMP), RGD and BMP peptides with mutant OPD (RGD+BMP+mOPD), and RGD and BMP peptides with OPD (RGD+BMP+OPD) grafted hydrogels. " 03/27/2012 - "The BMS cells seeded on RGD+BMP+OPD grafted hydrogels stained positive for vasculogenic markers α-SMA, PECAM-1, and VE-cadherin while the groups without OPD peptide (RGD+BMP and RGD+BMP+mOPD) stained only for α-SMA but not PECAM-1 or VE-cadherin. "

Therapies and Procedures

1.	Therapeutics 12/01/2023 - "Disruption of the biofilm architecture is associated with altered macroscopic and microscopic moduli, rapid vector permeability, increased antibiotic susceptibility, and improved mucociliary transport, suggesting that biofilm modulating therapeutics will improve the treatment of chronic respiratory infections in MOPD."
2.	Ambulatory Surgical Procedures (Outpatient Surgery) 12/01/2014 - "Handwritten prescriptions were received from clinical units of Medicine Outpatient Department (MOPD), Primary Care Clinic (PCC) and Surgery Outpatient Department (SOPD) whereas electronic prescriptions were collected from the pediatric ward. "