ORPHA:280576 Synonym(s): NGPS Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: E34.8 OMIM: 614008 UMLS: - MeSH: - GARD: 11008 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Acronym NGPS Synonyms Progeria syndrome childhood-onset with osteolysis PSCOO Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

[…] prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting [rarediseases.info.nih.gov]

Here, we present evidence of mutations in lamin A (LMNA) as the cause of this disorder. [scinapse.io]

Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself. [ncbi.nlm.nih.gov]

Unmutated and mutated CLL split into two groups with respect to methylation, this has clinical relevance in patient prognosis due to cell of origin. [core-genomics.blogspot.com]

This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isoform, which co-segregates with a severe form of cardiomyopathy with poor prognosis. [igm.cnr.it]

However, the symptoms appear early in life, lipodystrophy can be generalized or partial, and the prognosis is poor in relation to retrognatia-associated obstructive apneas and stroke. [tandfonline.com]

The etiology of WRS remains unknown. [scinapse.io]

A classification can be made according to their etiology, as they can be congenital (or familiar) or acquired, or according to their anatomical location, as they can be generalised, partial, or localised. [aelip.co.uk]

Deklerck, A.N. et al. (2015): “Etiological approach in patients with unidentified hearing loss”. Int J Pediatr Otorhinolaryngol., 79: 216-222. [cedd.net]

[…] complementation group E Synonym(s): - NGPS Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Takemoto M, Mori S, Kuzuya M, Yoshimoto S, Shimamoto A, Igarashi M, Tanaka Y, Miki T, Yokote K: Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int 2013;13:475-481. [karger.com]

Laminopathies are considered rare diseases because of their low prevalence, although no specific epidemiological studies have been conducted so far [ 14 Brown RJ, Araujo-Vilar D, Cheung PT, et al. [tandfonline.com]

Cole Eye Institute Cleveland Clinic Key Points Ocular complications are common in mitochondrial disorders and depend More information Inborn Errors of Metabolism Intensive Care Nursery House Staff Manual Inborn Errors of Metabolism INTRODUCTION and PATHOPHYSIOLOGY [docplayer.net]

The therapeutic approach of lipodystrophies involves two aspects: on the one hand, the prevention and treatment of associated metabolic and cardiovascular disorders; and on the other hand, the cosmetic treatment of what is produced by the loss and/or [aelip.co.uk]

More information Single Gene and NextGen Panels Molecular Testing for Hearing Loss: Single Gene and NextGen Panels Honey V Reddi, PhD, FACMG Clinical Molecular Geneticist Prevention Genetics, Marshfield, WI www.preventiongenetics.com Outline of Presentation [docplayer.net]

Wang, D. y Fu, T.M. (2014): “Progress on human cytomegalovirus vaccines for prevention of congenital infection and disease”. Curr Opin Virol, 6: 13-23. [cedd.net]

There are three models of chromosomal evolution, and this may matter as they could illuminate new prevention strategies, they may throw up novel synthetic-lethal vulnerabilities (PARP-inhibitor like treatments), can chains be used to separate patients [core-genomics.blogspot.com]

In our model, we therefore predict that the BANF1 A12T mutation may displace the side chain of Lys6 from its original position (Figure 2 B), preventing the formation of hydrogen bonds between this residue and the phosphodiester backbone and thus indicating [bmcmolbiol.biomedcentral.com]