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]

• Pain

  At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. [mendelian.co]

  Vom Material her und von der Bemalung, arm, back pain is one of the most common medical problems. BO O Primeiro Spy Girlfriend Lg Optimus Vu Easily Smartphone Tracking app Can Inspect Multimedia Content. [twomoongraphics.com]

• Male Hypogonadism

  Males with 3-M syndrome have hypogonadism and, occasionally, hypospadias. Diagnosis/testing. [findzebra.com]

• Hyposmia

  ORPHANET OMIM Rare Disease Symptoms Checker If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARSAW BREAKAGE SYNDROME; WABS SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 HYPOSMIA-NASAL [mendelian.co]

• Abdominal Pain

  At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. [ncbi.nlm.nih.gov]

• Liver Mass

  At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. [ncbi.nlm.nih.gov]

• Premature Graying of the Hair

  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]

• 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]

  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]

• Muscular Atrophy

  Muscular atrophy MedGen UID: 892680 •Concept ID: C0541794 • Pathologic Function The presence of skeletal muscular atrophy (which is also known as amyotrophy). [ncbi.nlm.nih.gov]

  atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. [orpha.net]

  atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. [mendelian.co]

  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]

• Flexion Contracture

  contracture Skeletal muscle atrophy Short stature Decreased body weight Thoracic kyphoscoliosis ... ... [familydiagnosis.com]

  Elbow flexion contracture MedGen UID: 98367 •Concept ID: C0409338 • Acquired Abnormality An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. [ncbi.nlm.nih.gov]

  contracture Skeletal muscle atrophy Frontal bossing Kyphosis And another 24 symptoms. [mendelian.co]

• 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]

• Frontal Bossing

  Frontal bossing may simply be normal ... ... More on Frontal bossing » Delayed skeletal maturation : Summary A decreased rate of skeletal maturation. [familydiagnosis.com]

  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]

• Spastic Paraplegia

  ORPHANET OMIM Rare Disease Symptoms Checker If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARSAW BREAKAGE SYNDROME; WABS SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 [mendelian.co]

  paraplegia 47 autosomal recessive 614066 AP4E1 chr15 15q21.2 Spastic paraplegia 51 autosomal recessive 613744 AP4M1 chr7 7q22.1 Spastic paraplegia 50 autosomal recessive 612936 AP4S1 chr14 14q12 Spastic paraplegia 52 autosomal recessive 614067 AP5Z1 [institutobernabeu.com]

  Paraplegia and Evans Syndrome Spastic Paraplegia with Kallmann Syndrome SPOAN syndrome spondylocarpotarsal synostosis syndrome spondyloepimetaphyseal dysplasia, Strudwick type Spranger Schinzel Myers Syndrome STANKIEWICZ-ISIDOR SYNDROME Steel Syndrome [rgd.mcw.edu]

  The SGRF Excellence in Science Award honours scientists who have made fundamental and pioneering contributions towards basic and translational research. 1st Oct 2015 - TECPR2 links early secretion pathway and autophagy Hereditary spastic paraplegias [biochem2.com]

• 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]

• Liver Biopsy

  Myers from the University of Oxford for providing healthy and HCC human liver biopsies and performing histological and immunohistochemical staining. The zebrafish γ-H2AX antibody was a kind gift of J. Amatruda (University of Texas Southwestern). [nature.com]

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]