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]

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

Since baf-1 is a highly conserved protein present in all animals, we can use C. elegans as organism to model NGPS(In this nematode, it is a glycine mutated to a threonine residue in the same position). [upo.es]

Presented here is a 2 year, 8 month old girl with short stature, poor weight gain, sparse hair, and dysmorphic facial features reminiscent of premature aging. [utsouthwestern.pure.elsevier.com]

• Short Stature

  stature ; Sinus tachycardia ; Sparse and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols: C78287 ) Source OMIM:614008 (names, [mousephenotype.org]

  Prevalence of clinical parameters (%) List of symptoms Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Short stature skeletal 100 % 21932319 2013-08-06 Facial dysmorphism skeletal 100 % 21932319 2013-08-06 Delayed closure of [brain-aging.com]

  Presented here is a 2 year, 8 month old girl with short stature, poor weight gain, sparse hair, and dysmorphic facial features reminiscent of premature aging. [utsouthwestern.pure.elsevier.com]

  […] syndromes ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME ( RBM28 ) PANCREATIC AND CEREBELLAR AGENESIS (PTF1A) LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES Partial lipodystrophy – cataract [european-lipodystrophies.org]

• Malocclusion

  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 [orpha.net]

  Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. [scinapse.io]

• Prognathism

  Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. [scinapse.io]

• Pachyonychia

  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]

  […] hidrotic Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] Odontoonychodermal dysplasia Ectodermal dysplasia-syndactyly syndrome (EDSS) Acne inversa Anonychia congenita Pachyonychia [csirnotes.com]

  Pachyonychia congenita, Jackson-Lawler type, 167210 (3) KRT17 G:148069. [usegalaxy.org]

• Severe Osteoporosis

  Definition An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. [uniprot.org]

  osteoporosis, and marked osteolysis. [genecards.org]

• Flexion Contracture

  contracture ; Hypertension ; Joint stiffness ; Lipoatrophy ; Malar flattening ; Micrognathia ; Midface retrusion ; Osteolytic defects of the distal phalanges of the hand ; Osteoporosis ; Progressive clavicular acroosteolysis ; Proptosis ; Pulmonary arterial [mousephenotype.org]

  contracture Hypertension Abnormality of the skeletal system Malar flattening Midface retrusion And another 30 symptoms. [mendelian.co]

  contracture Flexed joint that cannot be straightened 0001371 Hypertension 0000822 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Lipoatrophy Loss of fat tissue in localized area 0100578 Malar flattening Zygomatic flattening 0000272 Micrognathia [rarediseases.info.nih.gov]

• Withdrawn

  […] symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols: C78287 ) Source OMIM:614008 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based [mousephenotype.org]

• Beaked Nose

  nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Delayed closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Dental crowding Crowded teeth Dental overcrowding Overcrowding of teeth [rarediseases.info.nih.gov]

  As the disorder progresses, the appearance of these children is characterized by features, such as a beaked nose, large eyes and head size, narrow face, and visible veins. [pharmacytimes.com]

  nose [ 86 Csoka AB, Cao H, Sammak PJ, et al. [tandfonline.com]

• Thin Lips

  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 [orpha.net]

• Cryptorchidism

  Cryptorchidism, idiopathic, 219050 (3) INSL4 G:600910. . INSL5 G:606413. . INSL6 G:606414. . INSM1 G:600010. . INSM2 G:614027. . [usegalaxy.org]

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]

Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself. 2011 Wiley Periodicals, Inc. [insights.ovid.com]

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]

The epidemiology of premature aging and associated comorbidities. Clin Interv Aging. 2013;8:1023-1032. doi:10.2147/CIA.S37213 FDA approves first treatment for Hutchinson-Gilford progeria syndrome and some progeroid laminopathies [news release]. [pharmacytimes.com]

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]

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. Hennekam RCM. Hennekam RCM. Eur J Med Genet. 2020 Nov;63(11):104028. doi: 10.1016/j.ejmg.2020.104028. Epub 2020 Aug 10. Eur J Med Genet. 2020. [pubmed.ncbi.nlm.nih.gov]

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]

Lonafarnib is a farnesyltransferase inhibitor that helps prevent the buildup of defective progerin or progerin-like protein. The most common adverse effects of the drug are decreased appetite, diarrhea, infection, nausea, and vomiting. [pharmacytimes.com]

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]