EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES DBSNP FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN DBSNP ESP6500 FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT SCORES SIFT SCORE EXCLUDE VARIANTS WITHOUT SIFT SCORE POLYPHEN2 SCORE EXCLUDE [mendelmd.org]

Acronym RJALS Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Classification level: Disorder Synonym(s): Ruijs-Aalfs syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood, Adolescent ICD-10: - OMIM: 616200 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Data presentation Preferred names and synonyms of diseases are listed by alphabetical order with their ORPHA number. Deprecated entities are listed with the ORPHA number to be used preceded by the sign “→ “. [slidelegend.com]

• Short Stature

  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]

  Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [mendelian.co]

  Stature, Microcephaly, And Endocrine Dysfunction Short Stature-Obesity Syndrome Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation Thai Symphalangism Syndrome Urban-Rogers-Meyer Syndrome Velofacioskeletal Syndrome Waardenburg-Shah Syndrome [familydiagnosis.com]

• Disability

  Abidi Type X-Linked Intellectual Disability, Cilliers Type X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability With Marfanoid Habitus X-Linked Mandibulofacial Dysostosis • • • Back to: « Prominent nasal bridge Causes List for [familydiagnosis.com]

  syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. [mendelian.co]

  For further information, see e.g. http://www.wikihow.com/Disable-Cookies. Please be aware that disabling cookies may result in also disabling certain functionality and features of this site, as well as other websites you visit. [varsome.com]

  Association between APOE e2/e3/e4 polymorphism and disability severity in a national long-term care survey sample. [pathology.washington.edu]

  Career profile Post Doctoral Research Specialty Hematology & Oncology, Research Job posting number 111764BR Recruiter Kara Schott Equal opportunity employer Mayo Clinic is an equal opportunity educator and employer (including veterans and persons with disabilities [lensa.com]

• Asymptomatic

  PMID:21593217 Language Deficits as a Preclinical Window into Parkinson's Disease: Evidence from Asymptomatic Parkin and Dardarin Mutation Carriers. [science.gov]

  All told, 18% of the 51 asymptomatic individuals in the program were found to have a preneoplastic or neoplastic lesion. [intechopen.com]

  The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988 ). [mendelian.co]

  Phase III Trial of PROSTVAC in Asymptomatic or Minimally Symptomatic Metastatic Castration-Resistant Prostate Cancer. J Clin Onc.May 2019; 37 (13): 1051-/+. [memorias.vhio.net]

• Familial Adenomatous Polyposis

  Pancreatic cancer has been reported to have a relative risk of 4.46 in families with familial adenomatous polyposis [ 23 ]. A variant of FAP, attenuated familial adenomatous polyposis (AFAP) is characterized by mutations in the MUTYH gene [ 24 ]. [intechopen.com]

  adenomatous polyposis 3 616415 NTRK1 chr1 1q21-q22 Insensitivity to pain congenital with anhidrosis 256800 NUBPL chr14 14q12 Mitochondrial complex I deficiency nuclear type 21 618242 NUP107 chr12 12q15 Galloway-Mowat syndrome 7 618348 NUP107 chr12 12q15 [institutobernabeu.com]

• Vomiting

  SYNDROME exfoliation syndrome FACES Syndrome facial hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder + Failed Back Surgery Syndrome Familial Antiphospholipid Syndrome Familial Cyclic Vomiting [rgd.mcw.edu]

• Sloping Shoulders

  Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

  Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported. [orpha.net]

  Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related [familydiagnosis.com]

  shoulders Pectus excavatum Elbow contractures Clinodactyly Pes planus Delayed bone age Other associated conditions: Lipodystrophy Simian creases All three patients developed liver cancer (hepatoma) in the teens. [en.wikipedia.org]

• Myopathy

  Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. [mendelian.co]

  15q Distal Trisomy 18q Distal Trisomy 6p Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified Faciodigitogenital Syndrome, Autosomal Recessive Familial Visceral Myopathy [familydiagnosis.com]

  Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

  […] actin congenital with cores 161800 ACTA1 chr1 1q42.1 Nemaline myopathy 3 autosomal dominant or recessive 161800 ACTA1 chr1 1q42.1 Myopathy congenital with fiber-type disproportion 1 255310 ACTA1 chr1 1q42.1 Myopathy actin congenital with excess of thin [institutobernabeu.com]

  The Company develops a robust portfolio of diagnostic tests (breast, ovarian and colorectal cancers, myopathies) and analysis tools (DNA replication, biomarkers discovery, gene editing quality control). [businesswire.com]

• Bulbous Nose

  More on Triangular face » Bulbous nose : Summary Increased volume and globular shape of the anteroinferior aspect of the nose. 3, 4 ... ... [familydiagnosis.com]

  Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [ncbi.nlm.nih.gov]

• Irritability

  […] conjunctivitis Incomplete Sertoli Cell-Only Syndrome infancy electroclinical syndrome + Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis Iridocorneal Endothelial Syndrome + iridogoniodysgenesis syndrome + Irons Bhan Syndrome irritable [rgd.mcw.edu]

• Delayed Bone Age

  The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. [mendelian.co]

  bone age Other associated conditions: Lipodystrophy Simian creases All three patients developed liver cancer (hepatoma) in the teens. [en.wikipedia.org]

• Hepatocellular Carcinoma

  Mendelian Rare Diseases RUIJS-AALFS SYNDROME; RJALS Progeroid Features-hepatocellular Carcinoma Predisposition Syndrome Description Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 [mendelian.co]

  Diseases associated with SPRTN include ruijs-aalfs syndrome and progeroid features-hepatocellular carcinoma predisposition syndrome. [creative-diagnostics.com]

  Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. [ncbi.nlm.nih.gov]

More Symptoms of Ruijs-Aalfs syndrome » Treatments See also the following treatment articles: Treatments for Progeria Causes See also causal information: Causes of Premature aging Causes of Progeria Similar Topic Articles Premature aging Progeria • • [familydiagnosis.com]

The diagnosis is established by sequencing the SPRTN gene Differential diagnosis[edit] Werner syndrome Treatment[edit] There is no specific treatment for this condition. Management is supportive. [en.wikipedia.org]

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]

Radiotherapy is one of the fundamental components in treatment for the majority of these vulnerable patients. [books.google.es]

Prognosis [ edit ] In adults, many of the symptoms diminish over time. [en.wikipedia.org]

Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. [mendelian.co]

Molecular markers for cancer prognosis and treatment: have we struck gold? Cancer Lett. 327, 142–152 (2012). 19. Hoehn, H. et al. Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet. Cell Genet. 15, 282–298 (1975). 20. [nature.com]

The 70-gene prognosis signature predicts early metastasis in breast cancer patients between 55 and 70 years of age. Ann Oncol. 2010 Apr; 21(4):717-22. PMID: 19825882. View in: PubMed Linn SC, Van 't Veer LJ. [profiles.ucsf.edu]

Arthur Zimmermann, Etiology and Pathogenesis of Hepatocellular Carcinoma: Chromosomal Alterations, Oncogenes, Tumor Suppressors, and Associated Signaling Networks, Tumors and Tumor-Like Lesions of the Hepatobiliary Tract, 10.1007/978-3-319-26956-6_166 [doi.org]

Additional work also links this genotoxin to the etiology of other human illnesses, such as the Ruijs-Aalfs syndrome and the cancer predisposition of BRCA2 mutation carriers. [conicet.gov.ar]

Rare diseases registered in Orphanet are defined according to two scopes:   Every entity is defined by its clinical homogeneity, regardless of its etiology or the number of causing genes identified; The rarity is defined according to the European legislation [slidelegend.com]

Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. [ citation needed ] Diagnosis [ edit ] Diagnosis may be clinical if associated with dementia and other etiologies. [en.wikipedia.org]

[…] maturation Down-sloping shoulders Elbow flexion contracture Frontal bossing Lipodystrophy Micrognathia Muscular atrophy Pectus excavatum Thoracic kyphoscoliosis Growth abnormality Decreased body weight Short stature Neoplasm Hepatocellular carcinoma Etiology [ncbi.nlm.nih.gov]

Epidemiology[edit] This condition is considered to be rare with only 3 cases reported in the literature. [en.wikipedia.org]

Menko 2, Laura J van 't Veer 1 1 Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands 2 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands 3 Department of Psychosocial Research and Epidemiology [jmg.bmj.com]

This will eventually lead to a better understanding of the role of autophagy in pathophysiology and pave the road for innovative, targeted therapies. [biochem2.com]

Boraska Perica Journal of Endocrinological Investigation (2018) Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities Baris Akinci, Rasimcan Meral & Elif Arioglu Oral Current Diabetes Reports [nature.com]

[…] basic FUNCTION is a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response recruited to sites of stalled replication via ubiquitinated PCNA and plays an important role to prevent mutations associated with replication of damaged [genatlas.medecine.univ-paris5.fr]

This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. [creative-diagnostics.com]

However, Polη is highly error prone when replicating undamaged DNA and, thus, the regulation of the proper targeting of Polη is crucial for the prevention of mutagenesis and UV-induced cancer formation. [scoop.it]