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]
Prevalence of clinical parameters (%) List of symptoms Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Shortstature skeletal 100 % 21932319 2013-08-06 Facial dysmorphism skeletal 100 % 21932319 2013-08-06 Delayed closure of[brain-aging.com]
[…] syndromes ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME ( RBM28 ) PANCREATIC AND CEREBELLAR AGENESIS (PTF1A) LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES Partial lipodystrophy – cataract[european-lipodystrophies.org]
NESTOR-GUILLERMO PROGERIA SYNDROME BANF1 GENE ANALYSIS Nestor-Guillermo Progeria Syndrome (NGPS) is an atypical form of progeria characterised by severe osteolysis (of mandible, clavicles, ribs, distal phalanges and radii), shortstature, scoliosis, micrognathia[exeterlaboratory.com]
Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion[rarediseases.info.nih.gov]
Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated.[scinapse.io]
Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated.[scinapse.io]
Laminopathy type Decaudain-Vigouroux Left ventricular noncompaction Lethal restrictive dermopathy Mandibuloacral dysplasia with type A lipodystrophy Osteodysplasty, Melnick-Needles type Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Pachyonychia[csbg.cnb.csic.es]
Definition An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severeosteoporosis, and marked osteolysis.[uniprot.org]
B: Typical facial features of HGPS (alopecia, beakednose, micrognathia) and leucomelanodermic lesions in neck. C. Dystrophic nails. D: Atypical progeria syndrome in a 16 year old man due to de novo p.T10I LMNA variant.[tandfonline.com]
Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[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]
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]
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]