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]

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

Availability Please contact us to check the availability Immunogen Advanced Glycation End Products /BSA/HSA Specificity Advanced Glycation End Products (AGE), cross-reactivity BSA and HSA Product presentation Serum containing 0.1% sodium azide Recommended [az-biotech.com]

Moreover, the contribution by early career researchers in vivid discussions and more than 110 poster presentations was overwhelming, as was the quality of the work presented. [biochem2.com]

• Short Stature

  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]

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body [orpha.net]

  stature Decreased body weight Thoracic kyphoscoliosis ... ... [familydiagnosis.com]

• Weight Loss

  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]

  loss multi 100 % 25261934 2016-11-10 Cancer digestive 100 % 25261934 2016-11-10 Micrognathia skeletal 100 % 25261934 2016-11-10 Lipodystrophy integumentary 100 % 25261934 2016-11-10 Muscle atrophy skeletal 100 % 25261934 2016-11-10 Attention deficit [mitodb.com]

• Chronic Infection

  […] granulomatous disease 1 autosomal recessive 233700 NCF2 chr1 1q25 Chronic granulomatous disease due to deficiency of NCF-2 233710 NCF4 chr22 22q13.1 Chronic granulomatous disease 3 autosomal recessive 613960 NDE1 chr16 16p13.1 Lissencephaly 4 (with microcephaly [institutobernabeu.com]

• Constipation

  WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome; ws4; waardenburg syndrome type 4; waardenburg-hirschsprung syndrome Related symptoms: Hearing impairment Wide nasal bridge Constipation Abdominal pain Telecanthus SOURCES: ORPHANET [mendelian.co]

• Sloping Shoulders

  In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. [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]

  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]

  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]

• Long Arm

  This gene is located on the long arm of chromosome 1 (1q42.2). The gene SPRTN encodes the DNA dependent metalloprotease Spartan. [en.wikipedia.org]

• Bulbous Nose

  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]

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

  Signs and symptoms[edit] The main features of this condition are evident in skeleton and face[1] Facial features: Triangular face Small frontotemporal diameter Small deep set eyes Bulbous nose with high nasal bridge Small upper lip Micrognathia Skeletal [en.wikipedia.org]

• Rabies

  2019 growth despite strong Q4 profits - themalaymailonline Dozens of ex-graft convicts running for office in Indonesia polls - themalaymailonline Farid Kamil trial postponed after counsel injured in road accident - thestar Zero-stray policy only in rabies-infected [malaysia.shafaqna.com]

• Onset in Adolescence

  ORPHA:435953 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 [orpha.net]

• 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. [ncbi.nlm.nih.gov]

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

  Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy [genomics.senescence.info]

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]

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 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]

Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village. [ncbi.nlm.nih.gov]

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]

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]

[…] 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]

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]

The etiology of why magnesium would be protective for pancreatic cancer is not completely clear. There have been associations with magnesium and the improvement in insulin sensitivity. [intechopen.com]

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]

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. [ghr.nlm.nih.gov]

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]