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803 Possible Causes for Cardiac Arrhythmia, Cataract, Xeroderma

  • Hypoparathyroidism

    Abstract Cataract is a cardinal manifestation of hypoparathyroidism.[ncbi.nlm.nih.gov] Such symptoms include clouding of the lens of the eyes (cataracts), seizures or convulsions, fainting, abnormal heartbeats (cardiac arrhythmias) and, potentially, signs of[rarediseases.org] Cardiac: Prolongation of the QTc interval.[emedicine.medscape.com]

  • Cockayne Syndrome

    To describe cataracts in classic and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov] […] whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma[ncbi.nlm.nih.gov] Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage.[ncbi.nlm.nih.gov]

  • Diabetes Mellitus

    Considering this, we reviewed the principles and guidelines of managing cataract in patients with diabetes.[ncbi.nlm.nih.gov] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12, 17–23 (1996). 13. Neyroud, N. et al.[doi.org] We evaluate thyroid-related changes in linear growth under 100.00 ; thyroid-related changes in blood pressure and heart rate that cause cardiac arrhythmias or other cardiac[ssa.gov]

  • Myotonic Dystrophy

    We report a family with hereditary cataract, which was initially classified as primary hereditary cataract.[ncbi.nlm.nih.gov] […] pacemakers in patients with life-threatening cardiac arrhythmias surgery for cataract extraction non-invasive positive pressure ventilation in patients with obstructive sleep[step1.medbullets.com] […] mucopolysaccharidosis, Gaucher's disease, infanitile amaurotic familial idiocy, Sandhoff disease, Lesch-Nyhan syndrome, APRT deficiency, adenosine deaminase anomalous syndrome, xeroderma[patents.justia.com]

  • Anorexia Nervosa

    Cataract People with aniridia can develop cataract at an early age, often in late childhood or adolescence or early adulthood.[rnib.org.uk] arrhythmias including prolonged QTc Hypothermia Suicide risk Intractable vomiting Hematemesis Failure to respond to outpatient treatment Table 5.[aafp.org] arrhythmia, coronary disease, pancreatitis, necrotic colitis and suicides. [ 25 ] Symptoms and behavior characteristics The self-enforcement starvation of the patients, who[hsj.gr]

  • TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy

    "A Novel Homozygous Tmem70 Mutation Results In Congenital Cataract and Neonatal Mitochondrial Encephalo-cardiomyopathy."[pubag.nal.usda.gov] Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with CNV Detection ( #7973 ) Xeroderma[preventiongenetics.com] On the other hand, it may be characterized by cardiac myopathy and arrhythmia. To date, at least six genes have been associated with this disease.[google.com]

  • Refsum Disease

    Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia.[ncbi.nlm.nih.gov] It causes retinitis pigmentosa, cataracts, a chronic polyneuropathy, cerebellar ataxia and cardiac arrhythmias amongst other clinical signs.[ncbi.nlm.nih.gov] […] colon / bowel, leukemia / lymphoma, lung, melanoma / skin, multiple endocrine neoplasia, oral, ovarian, pancreas, prostate, retinoblastoma, testicular, von Hippel-Lindau, xeroderma[kumc.edu]

  • CAMFAK Syndrome

    Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] He is also the Editor of Molecular Mechanisms of Fanconi Anaemia, Molecular Mechanisms of Xeroderma Pigmentosum, Molecular Mechanisms of Ataxia Telangiectasia and Molecular[books.google.com] Neurologic Disease with Osseous Fragility Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC[rgd.mcw.edu]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    […] syndrome Cataract-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-hypogonadism[se-atlas.de] Most patients develop proximal leg weakness, followed by cardiac arrhythmias and dilated cardiomyopathy, with sudden death 20-30 years later.[archive.org] XFE progeroid syndrome 610965 133520 ERCC4 16p13.12 Xeroderma pigmentosum, group F 278760 133520 Autosomal recessive ERCC5 13q33.1 Xeroderma pigmentosum, group G/Cockayne[mnglabs.com]

  • Tricho-Retino-Dento-Digital Syndrome

    Nails Hair Hair: pili canaliculi uncombable hair pili trianguli Genitourinary External Genitalia Male: hypospadias Skeletal Feet: brachydactyly Head And Neck Eyes: juvenile cataract[malacards.org] arrhythmia ANK2 Long QT syndrome ANK2 Chondrocalcinosis 2 ANKH Craniometaphyseal dysplasia ANKH Cerebral palsy ANKRD15 Hyalinosis, infantile systemic ANTXR2 Fibromatosis,[springer.com] […] hypohidrotic dysplasia Tricho retino dento digital syndrome Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Trichodermodysplasia dental alterations Trichodysplasia xeroderma[mindmappedia.com]

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