Symptoma

Autosomal Recessive Mental Retardation Type 1

Autosomal Recessive Non-Syndromic Intellectual Disability Type 1

Intellectual disability may present as the sole clinical feature (non-syndromic), or may be present with additional clinical or dysmorphological features (syndromic). [google.la]

Clinical presentation The patient group ( Table 2 ) showed a predominant neurological presentation with a wide range of mild to severe global developmental delay in all 12 patients. Intellectual disability was present in all patients 5 years. [brain.oxfordjournals.org]

(Wednesday, May 29th 3:30-5:30 pm) ClinGen Posters and Presentations - ACMG 2019 Gene Disease Validity General Training Presentation Updated February 2018. [clinicalgenome.org]

[…] in the score cards) could also boost a gene from category 4 to 3. 1/1/2017 Description Homozygous loss-of-variant (LoF) variants in the CC2D1A gene were identified in four families with a total of 16 individuals affected with a variable spectrum of presentations [gene.sfari.org]

We report a consanguineous Omani family in which multiple individuals have ID and developmental delay together with some variably present features including short stature, microcephaly, moderate facial dysmorphism, and congenital malformations of the [eprints.whiterose.ac.uk]

  • Hemophilia A

    FANCD) Fragile X syndrome, FRAXA (FMR1) (see below) Friedreich's ataxia (FRDA (frataxin)) Galactosemia (GALT) Gaucher disease (GBA (acid beta glucosidase)) Gitelman's syndrome Hemoglobin E thalassemia Footnotes ** Hemoglobin S and/or C Footnotes ** Hemophilia [aetna.com]

    Factor V Leiden CPT CODE: 81241 Panel of Factor V Leiden and Prothrombin CPT CODE: 81241, 81240 Panel of Factor V Leiden, Prothrombin and MTHFR CPT CODE: 81241, 81240, 81291 Go to top FACTOR XI DEFICIENCY (Hemophilia C, Plasma Thromboplastin Antecedent [chginc.org]

  • Disability

    disability (ID) is one of the most demanding challenges for clinical Geneticists and Researchers. [moh-it.pure.elsevier.com]

    (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score 3.7). [pdfs.semanticscholar.org]

    X-linked intellectual disability accounts for 16% of all cases of intellectual disability in males. [ipscenter.nl]

    […] and cause up to 50% of intellectual disability worldwide. [medicalxpress.com]

  • Infertility

    […] intellectual deficit Congenital bilateral absence of vas deferens Cystic fibrosis Distal myopathy with posterior leg and anterior hand involvement Hereditary chronic pancreatitis Hyperparathyroidism - jaw tumor syndrome Idiopathic bronchiectasis Male infertility [csbg.cnb.csic.es]

    This assay should be performed in conjunction with routine chromosome studies for evaluation of male infertility. [chginc.org]

    CF produces chronic progressive disease of the respiratory system, malabsorption due to pancreatic insufficiency, increased loss of sodium and chloride in sweat, and male infertility as a consequence of atresia of the vas deferens. [aetna.com]

  • Falling

    Many patients display a cluster of clinical features that fall into a specific clinical syndrome; however, there is often considerable clinical variability. [chginc.org]

    Some individuals display features that fall into distinct syndromes such as chronic progressive external ophthalmoplegia (CPEO), Kearns‐Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome (LS), mitochondrial encephalomyopathy [aetna.com]

  • Heart Failure

    Hershberger RE, Lindenfeld J, Mestroni L, et al; Heart Failure Society of America. Genetic evaluation of cardiomyopathy -- a Heart Failure Society of America practice guideline. J Card Fail. 2009;15(2):83-97. [aetna.com]

  • Progressive Hearing Loss

    Individuals with Usher syndrome type III typically experience progressive hearing loss and vision loss beginning in the first few decades of life. Infants are usually born with normal hearing and vision. [chginc.org]

  • Strabismus

    […] defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ( 17847003 ) Motazacker M.M....Kuss A.W. 2007 14 Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus [malacards.org]

    In Family 4, Patient 4.1 shows features that are commonly present in other types of CDGs, including hypotonia, strabismus and inverted nipples, whereas the other sibling has a syndromal intellectual disability phenotype with macrocephaly, aggressivity [brain.oxfordjournals.org]

    Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus Alazami, A. M.; Hijazi, H.; Al‐Dosari, M. S.; Shaheen, R.; Hashem, A.; Aldahmesh, M. A. [deepdyve.com]

    Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS Title Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus [genome.jp]

    No facial dysmorphism was observed except for affected individual IV-10 who had strabismus (Figure 2 ). [bmcmedgenet.biomedcentral.com]

  • Aniridia

    cerebellar ataxia - intellectual deficit Autosomal dominant keratitis Extraskeletal Ewing sarcoma Foveal hypoplasia - presenile cataract Isolated aniridia Isolated optic nerve hypoplasia Morning glory syndrome Peters anomaly WAGR syndrome Williams [csbg.cnb.csic.es]

    […] in children and adolescents with obsessive–compulsive disorder Hauser et al. 2006 Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma Grønskov et al. 2001 Population-based risk estimates of Wilms tumor in sporadic aniridia [google.la]

  • Ankylosis

    2 Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 ) Rehman S.u....Hansen L. 2011 3 Autosomal recessive mental retardation, deafness, ankylosis [malacards.org]

  • Osteoporosis

    Diagnosis and treatment of osteoporosis. Bloomington (MN): Institute for Clinical Systems Improvement (ICSI); July 2013. Available at: . Manolagas S. Pathogenesis of osteoporosis. UpToDate Inc., Waltham, MA. Last reviewed October 2014. [aetna.com]

  • Suggestibility

    New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. [news-medical.net]

    These findings suggest that CamKII(cre/ ), crbn(-/-) mice exhibit selective HPC-dependent deficits in associative learning and supports the use of these mice as in vivo models to study the functional consequences of CRBN aberrations on memory and learning [ncbi.nlm.nih.gov]

    Several patients did not meet the expected syndromic manifestation, suggesting a strong bias in present clinical syndrome descriptions. [cellnetworks.uni-hd.de]

  • Fear

    Contextual fear conditioning showed a significant decrease in the percentage of freezing time in CamKII(cre/ ), crbn(-/-) and crbn(-/-) mice while motor function, exploratory motivation, and anxiety-related behaviors were normal. [ncbi.nlm.nih.gov]

  • Anxiety Disorder

    It is formed of a 97-item questionnaire covering eight domains, namely, anxiety disorder, depressive episode, manic episode, obsessive compulsive disorder, psychosis, attention-deficit hyperkinetic disorder, conduct disorder and autism spectrum disorder [dovepress.com]

  • Confusion

    Rarely, symptoms do not occur until adulthood and may include migraines, nausea, coordination difficulties, blurred vision, confusion, and hallucinations When OTC Deficiency is detected early and proper treatment is started immediately, affected children [natera.com]

    Other features may include confusion, poor judgment, language difficulties, withdrawal, and hallucinations. [chginc.org]

    Familial cold autoinflammatory syndrome shares symptoms, and should not be confused, with acquired cold urticaria, a more common condition mediated by different mechanisms that usually develop later in life and are rarely inherited. [aetna.com]

  • Dysarthria

    The condition typically presents in infancy or early childhood and is characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [chginc.org]

    Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

Recently, Cooper and colleagues 82 looked at data from 15,767 patients who had undergone array CGH analysis as part of the diagnostic workup. [nejm.org]

History of admission to neonatal intensive care unit was significantly higher among the patient group than among the controls ( P Conclusion: Metabolic testing should be considered in the workup of individuals with nonsyndromic ID, which will need further [dovepress.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

[…] trio approach using next generation sequencing could explain a consistent percentage of patients with isolated ID, thus increasing our knowledge on the molecular bases of this disease and opening new perspectives for a better diagnosis, counseling, and treatment [moh-it.pure.elsevier.com]

It also helps in initiating the treatment in the earlier stages of development as it will be more effective and will improve the outcome at a later stage. [dovepress.com]

Treatment of mitochondrial disorders is largely supportive. [aetna.com]

By treatment with neuraminidase ( n), a single band is observed for MAN1B1-CDG, whereas a polymorphism is indicated by two bands after treatment with neuraminidase. ( C ) Schematic presentation of the MAN1B1 protein, indicating the cytosolic (Cyt), transmembrane [brain.oxfordjournals.org]

The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis. [aetna.com]

Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. [clinicalgenome.org]

In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. [nature.com]

As the data continue to accumulate, our understanding of genes, pathways, and molecular mechanisms will continue to evolve and translate into better diagnosis, prognosis, and therapies for these severe disorders. [nejm.org]

The etiology remains unknown in up to 80% of cases with mild intellectual disability (4). Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

Despite multiples genes involved in the etiology of disease, most of the genetic background is yet to be discovered. [sparrho.com]

It is estimated that mutations in the genes on the X chromosome may account for about 10% of all cases of ID, thus molecular investigations into the X chromosome in elucidating the etiology of an individual with ID have been routinely suggested. [ashg.org]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978; 14: 127-37. 8. [jpma.org.pk]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978 ; 14 : 127 – 137. 11. Hussain, R, Bittles, AH. [cambridge.org]

Author information 1 Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK; Department of Psychology, University of Edinburgh, Edinburgh, UK. 2 Centre for Integrated Genomic Medical Research, University of Manchester [ncbi.nlm.nih.gov]

Relevant External Links for CC2D1A Genetic Association Database (GAD) CC2D1A Human Genome Epidemiology (HuGE) Navigator CC2D1A Atlas of Genetics and Cytogenetics in Oncology and Haematology: CC2D1A No data available for Genatlas for CC2D1A Gene The CC2D1A [genecards.org]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8, 117–134 (2002). 22. Lubs, H. A., Stevenson, R. E. & Schwartz, C. E. [nature.com]

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet. 1994;46(5):347–351. 20. Wasant P, Vatanavicharn N, Srisomsap C, Sawangareetrakul P, Liammongkolkul S, Svasti J. [dovepress.com]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117-34. 2. Diagnostic and statistical manual of mental disorders. Text revision (DSM-IV-TR). 4th ed. [jpma.org.pk]

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. A., Kuss A. [degruyter.com]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

Vincent's team aims to provide scientists more clues to understand, diagnose, prevent, and treat intellectual disabilities. [eurekalert.org]

In some cases (eg, phenylketonuria [PKU] and hypothyroidism), retardation is preventable with early treatment. Other disorders (eg, mucopolysaccharidosis and sphingolipidoses) are less responsive to early intervention. [dovepress.com]

Common (but preventable) environmental causes of ID are iodine deficiency and malnutrition (of both mother and child), affecting millions of people in “developing countries”. [f1000research.com]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]