Symptoma

Raynaud-Claes Syndrome

MRX15

Acronym MRXSRC Synonyms Mental retardation, X-linked 15 Mental retardation, X-linked 49 Mental retardation, X-linked 49/15 MRX49 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

Raynaud's phenomenon is the initial symptom that presents for 70% of patients with scleroderma, a skin and joint disease. When Raynaud's phenomenon is limited to one hand or one foot, it is referred to as unilateral Raynaud's. [en.wikipedia.org]

Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. [clinicalepigeneticsjournal.biomedcentral.com]

FBrf0222196] Disease Summary Information Parent Disease Summary: intellectual disability, X-linked, syndromic Symptoms and phenotype Intellectual disability is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present [flybase.org]

  • Disability

    OMIM : 56 Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. [malacards.org]

    Definition An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. [uniprot.org]

    […] abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual impairment; Coarse facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability [mousephenotype.org]

    Name intellectual disability, X-linked, syndromic, Claes-Jensen type FlyBase ID FBhh0000849 Disease Ontology Term Parent Disease This report describes intellectual disability, X-linked syndromic, Claes-Jensen type; an alternative designation of this disease [flybase.org]

    (PMID: 10564087) Kawasaki M … Sasaki S (The American journal of physiology 1999) 3 4 23 54 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. [genecards.org]

  • Raynaud Phenomenon

    "Raynaud Phenomenon: Practice Essentials, Pathophysiology, Etiology". 6 December 2017. [en.wikipedia.org]

    However, as early as the 1950s, it was recognized that Raynaud's phenomenon may precede an underlying disease by many years. 5. [es.slideshare.net]

  • Developmental Delay

    delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive [mousephenotype.org]

    delay and intellectual disability disorders [14, 15]. [clinicalepigeneticsjournal.biomedcentral.com]

  • Epilepsy

    […] implicated [LYSINE-SPECIFIC DEMETHYLASE 5C; KDM5C]() Symptoms and phenotype MRXSCJ is characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy [flybase.org]

    They are used primarily to treat epilepsy and neuropathic pain. [en.wikipedia.org]

  • Coarse Facial Features

    facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive [mousephenotype.org]

  • Strabismus

    […] encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus [mousephenotype.org]

  • Visual Impairment

    15; MRX15, MENTAL RETARDATION, X-LINKED 49; MRX49 Classification genetic, neurological Phenotypes Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual [mousephenotype.org]

  • Compulsive Behavior

    behavior; Progressive cerebellar ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive inheritance Associated Genes CLCN4 (Withdrawn symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 [mousephenotype.org]

  • Withdrawn

    […] symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 ) Source OMIM:300114 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) [mousephenotype.org]

  • Aggressive Behavior

    Name Raynaud-Claes Syndrome Synonyms MENTAL RETARDATION, X-LINKED 15; MRX15, MENTAL RETARDATION, X-LINKED 49; MRX49 Classification genetic, neurological Phenotypes Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; [mousephenotype.org]

  • Seizure

    Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

    Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia; Scoliosis; Seizures [mousephenotype.org]

    Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

    lidocaine infusions; implanted opioid pump; in rare cases amputation Medication Anti-seizure medications for nerve pain (e.g. [en.wikipedia.org]

  • Ataxia

    Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

    […] palpebral fissures; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Long face; Lower limb spasticity; Mandibular prognathia; Midface retrusion; Obsessive-compulsive behavior; Progressive cerebellar ataxia [mousephenotype.org]

    Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

    Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. {ECO:0000269 PubMed:23647072, ECO:0000269 PubMed:25644381}. [genecards.org]

  • Behavior Problem

    Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. [malacards.org]

    Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. [ncbi.nlm.nih.gov]

    Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. {ECO:0000269 PubMed:23647072, ECO:0000269 PubMed:25644381}. [genecards.org]

    Mutations in the CLCN4 gene are also responsible for Raynaud-Claes syndrome (OMIM 300114), an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development; behavioral problems [autism.mindspec.org]

  • Cerebellar Ataxia

    ataxia; Scoliosis; Seizures; Strabismus; X-linked dominant inheritance; X-linked recessive inheritance Associated Genes CLCN4 (Withdrawn symbols: CLC4, ClC-4 ) Mouse Orthologs Clcn4 (Withdrawn symbols: Clc4-2, Clcn4-2 ) Source OMIM:300114 (names, synonyms [mousephenotype.org]

    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016;8(1):91. 11. [clinicalepigeneticsjournal.biomedcentral.com]

  • Encephalopathy

    Absent speech; Aggressive behavior; Anxiety; Autistic behavior; Behavioral abnormality; Bipolar affective disorder; Cerebral cortical atrophy; Cerebral visual impairment; Coarse facial features; Depressivity; Downslanted palpebral fissures; Epileptic encephalopathy [mousephenotype.org]

    (PMID: 25644381) Hu H … Kalscheuer VM (Molecular psychiatry 2016) 3 4 54 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (PMID: 23647072) Veeramah KR … Hammer MF (Epilepsia 2013) 3 4 54 [genecards.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]

A more recent treatment for severe Raynaud's is the use of botulinum toxin. [en.wikipedia.org]

Alternative medicine[edit] Evidence does not support the use of alternative medicine, including acupuncture and laser therapy.[3] Prognosis[edit] The prognosis of primary Raynaud syndrome is often very favorable, with no mortality and little morbidity [en.wikipedia.org]

[…] s phenomenon is classified as primary (formerly Raynaud’s disease) if there is no known underlying illness and secondary (formerly Raynaud’s syndrome) if there is an associated disorder detected upon assessment; the distinction is important, because prognosis [es.slideshare.net]

"Raynaud Phenomenon: Practice Essentials, Pathophysiology, Etiology". 6 December 2017. [en.wikipedia.org]

Next, to determine the performance of this classifier in patients with developmental delay/intellectual disability (DD/ID) of other etiologies, the model was supplied with the methylation profile of 146 patients with autism spectrum disorders, 12 patients [clinicalepigeneticsjournal.biomedcentral.com]

Fenómeno de Raynaud Patogenia DisfunciónVascular & Espectro Esclerosis Sistémica martes, 10 de septiembre de 13 Systemic sclerosis (ssc) is a connective tissue and autoimmune disease of unknown etiology that affects various organ systems, including the [es.slideshare.net]

"Epidemiology study of an outbreak of epidemic erythromelalgia. Occupation and Health". 21: 713–714. Xie F, Ning H, Lei Y, Lei S (2010). "A brief report of an outbreak epidemic erythromelalgia. [en.wikipedia.org]

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. Int J Epidemiol. 2012;41(1):200–9. 21. Kuhn M. Caret package. J Stat Soft. 2008;28(5):1–26. 22. [clinicalepigeneticsjournal.biomedcentral.com]

"Raynaud Phenomenon: Practice Essentials, Pathophysiology, Etiology". 6 December 2017. [en.wikipedia.org]

The exact molecular mechanism involved in the pathophysiology of these disorders has not been well established. [clinicalepigeneticsjournal.biomedcentral.com]

Calcium channel blockers prevent or reduce the opening of these channels and thereby reduce these effects. [en.wikipedia.org]