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]

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]

Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN ). [typeset.io]

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]

• Short Stature

  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]

  stature, scoliosis, micrognathia, propotosis, prominent subcutaneous venous patterning, generalised lipoatrophy and sparse to absent scalp hair from second decade of life. [exeterlaboratory.com]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  […] 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]

• Dysostosis

  Disease Type of connection Familial isolated dilated cardiomyopathy X-linked Emery-Dreifuss muscular dystrophy Cone rod dystrophy Leber congenital amaurosis Retinitis pigmentosa Acrofacial dysostosis, Weyers type Acute promyelocytic leukemia Ataxia - [csbg.cnb.csic.es]

  […] anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome) ADULT syndrome Limb-mammary syndrome Trichodentoosseous dysplasia Ellis-van Creveld syndrome and Weyers acrodental dysostosis [csirnotes.com]

  DLL3 G:602768 Bell>skeletal Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) DLL4 G:605185. . DLST G:126063. . DLX1 G:600029. . DLX2 G:126255. . DLX3 G:600525. [usegalaxy.org]

• Short Finger

  The hands use to be wide with short fingers. Acanthosis nigricans in neck and axillae and achocordons, as insulin resistance stigmata, are not unfrequent ( Figure 1D ). [tandfonline.com]

• Skin Atrophy

  atrophy integumentary 100 % 21932319 2013-08-06 Hypoglycemia circulatory 50 % 21932319 2013-08-06 List of references: Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations [brain-aging.com]

  These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, [scholar.um5.ac.ma]

  J Invest Dermatol. 2014 Mar 31. in press Acrogeria is a form of skin atrophy with premature aging aspects. It has heterogeneous origin, reportedly many cases being caused by collagen III mutations. [igm.cnr.it]

• Sparse Hair

  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]

  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. [onlinelibrary.wiley.com]

  hair - brachydactyly LMNA-related cardiocutaneous progeria syndrome Laminopathy type Decaudain-Vigouroux Left ventricular noncompaction Lethal restrictive dermopathy Mandibuloacral dysplasia with type A lipodystrophy Osteodysplasty, Melnick-Needles type [csbg.cnb.csic.es]

• 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]

  NGPS is 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. [genome.ucsc.edu]

• Brachydactyly

  […] multiple meningioma Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Frontometaphyseal dysplasia Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria syndrome Intellectual deficit - sparse hair - brachydactyly [csbg.cnb.csic.es]

  type A2, BMP4 Microphthalmia, syndromic 6, Orofacial cleft 11, BMPER Diaphanospondylodysostosis, BMPR1A Polyposis, juvenile intestinal, Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, infantile form, BMPR1B Brachydactyly, type [healthdocbox.com]

  A/B/D/E Brachydactyly C Brachydactyly-syndactyly syndrome Feingold syndrome Hand-foot-genital syndrome Keutel syndrome Brachydacytly-mental retardation syndrome Rubinstein-Taybi syndrome Acheiropodia Cornelia de Lange syndrome (CdLS) Holt-Oram syndrome [csirnotes.com]

  Brachydactyly, type A2, 112600 (3) BMPR1B G:603248. [usegalaxy.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]

  […] women presented with similar dysmorphic features including severe retrognathia, beaked nose, narrow chest, sloping shoulders, and an acrogeric appearance of the hands and feet. [typeset.io]

  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]

  B: Typical facial features of HGPS (alopecia, beaked nose, 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]

• Ataxia

  Spinocerebellar ataxia 10, ATXN2 Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis, susceptibility to, 13}, {Parkinson disease, late onset, susceptibility to}, ATXN3 Machado Joseph disease, ATXN7 Spinocerebellar ataxia 7, ATXN8OS Spinocerebellar [healthdocbox.com]

  Failure of amino acid homeostasis causes cell death following proteasome inhibition A Suraweera, C Münch, A Hanssum, A Bertolotti Molecular cell 48 (2), 242-253, 2012 152 2012 Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the [scholar.google.com]

  Teive HA, Moro A, Moscovich M, et al. (2015) Ataxia-telangiectasia – A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci 355: 3-6. 16. [aimspress.com]

• Cerebellar Ataxia

  2, Spinocerebellar ataxia 6, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, CACNA1C Timothy syndrome, Brugada syndrome 3, CACNA1D Sinoatrial node dysfunction and deafness, Primary aldosteronism, seizures, and neurologic abnormalities [healthdocbox.com]

  ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC HP:0011712 HP:0011712 Right bundle branch block 0 GNAI2 CL E G H 2771 4385 OMIM:192605 Ventricular tachycardia, familial. 4 HP:0011712 HP:0011712 Right bundle branch block 0 GPD1L CL [mseqdr.org]

  […] of Charlevoix-Saguenay (ARSACS) Infantile ascending hereditary spastic paralysis (IAHSP) Sveinsson chorioretinal atrophy (SCRA) Bart-Pumphrey syndrome Jensen syndrome Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) Pyridoxine-dependent [csirnotes.com]

  Cognitive impairment with or without cerebellar ataxia, 614306 (3) SCN8A G:600702. [usegalaxy.org]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

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]

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]

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]

Accessed January 4, 2020. https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043. https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043 [pharmacytimes.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]

PMID: 21932319 Prognosis Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A Am J Med Genet A 2012 Nov;158A(11):2881-7. Epub 2012 Sep 18 doi: 10.1002/ajmg.a.35557. [ncbi.nlm.nih.gov]

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]

Etiology Am J Med Genet A 2020 Oct;182(10):2399-2402. Epub 2020 Aug 12 doi: 10.1002/ajmg.a.61777. PMID: 32783369 Diagnosis Fisher HG, Patni N, Scheuerle AE Am J Med Genet A 2020 Oct;182(10):2399-2402. Epub 2020 Aug 12 doi: 10.1002/ajmg.a.61777. [ncbi.nlm.nih.gov]

[…] 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]

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]

Finally, we revealed that the disrupted interaction does not prevent repair of NE ruptures but instead generates weak points in the NE that lead to a higher frequency of NE re-rupturing in NGPS cells. [repository.cam.ac.uk]

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]

In this research program, we try to study the detailed development mechanism and preventation of Fanconi syndrome (FS). [ritsumei-rarediseases.net]

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]