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  • MELAS Syndrome

    Abstract The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA).[] Abstract We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy[] MELAS syndrome should be considered in the differential diagnosis of bilateral ptosis, external ophthalmoplegia, and atypical pigmentary retinopathy with macular involvement[] Psychiatric symptoms in patients with MELAS are rarely reported.[] Abstract Myoclonic seizures, intractable abdominal pain, and headaches resolved during the concomitant administration of sodium dichloroacetate and vita min B1 in two Japanese[] Abstract A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders[] Inner ear deafness is often the cause of sensorineural hearing loss associated with mitochondrial encephalomyopathy. However, retrocochlear deafness may also be a cause.[] Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this disorder as well.[] Abstract MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA).[]

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  • Spastic Paraplegia - Nephritis - Deafness Syndrome

    Genetic Test Registry Cataract 40 Cataract 40 With Or Without Microcornea Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes Cataract, Congenital[] , Duchenne-like Muscular dystrophy type Becker Muscular dystrophy type Duchenne Muscular dystrophy type Emery–Dreifuss Myotonia congenita Myotonia congenita (two types) Myotonic[] Dr Landsberger and colleagues call for specialized mental health training for ASL interpreters who work in psychiatric settings.[] […] encephalopathy, early infantile, 1 300382 EPI Epilepsy Panel ASAH1 Farber lipogranulomatosis 225000 LSD Lysosomal Storage Disorder ASAH1 Spinal muscular atrophy with progressive myoclonic[] Symptoms describe an individual’s experience of a medical disorder.[] Additional features include high arched palate, coloboma of the right optic disk, deafness , ventricular septal defect, toes and fingers abnormalities.[] There is general developmental delay with impaired intellectual development, delayed or absent walking, and behavioral psychiatric manifestations such as stereotypic and unpredictable[] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[] dystrophy 16 5 Cone-Rod Dystrophy 18 2 Cone-Rod Dystrophy 19 2 Cone-Rod Dystrophy 2 5 Cone-Rod Dystrophy 20 2 Cone-Rod Dystrophy 21 2 Cone-Rod Dystrophy 3 4 Cone-Rod Dystrophy[]

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  • Congenital Hypotrichosis with Juvenile Macular Dystrophy

    Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Other congenital malformations H00785 Congenital hypotrichosis with juvenile[] Clinical features of hypotrichosis with macular dystrophy. A, 28 yo female patient with sparse hair that has limited growth.[] HJMD is sometimes associated with limb anomalies, in which case it is termed Ectodermal dysplasia, Ectrodactyly, and Macular dystrophy (EEM; see this term).[] Cancer Res. (2008) [ Pubmed ] Chronic delusional hallucinatory psychosis in early-onset Parkinson's disease: drug-induced complication or sign of an idiopathic psychiatric[] Epilepsy and Ragged Red Muscle Fibers MERRF/MELAS overlap disease Myoclonic Epilepsy and Psychomotor Regression Progressive Encephalopathy Epilepsy, Strokes, Optic atrophy[] Abstract Hypotrichosis with juvenile macular dystrophy (HJMD) (MIM 601553) is a rare disorder characterized by the paucity of hair and progressive macular degeneration leading[] […] with Anhidrotic Ectodermal Dysplasia Deafness, Conductive, with Ptosis and Skeletal Anomalies Deafness, Congenital, and Onychodystrophy, Autosomal Dominant Deafness, Onychodstrophy[] The disorder is caused by mutations in CDH3, a gene encoding P-cadherin, a major component of adherens junctions.[] UniProtKB/Swiss-Prot : 75 Hypotrichosis congenital with juvenile macular dystrophy: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative[]

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  • Maternally-Inherited Diabetes and Deafness

    Pagina 137 - Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. ‎[] OBJECTIVE: To evaluate the prevalence of macular pattern dystrophy (MPD) in maternally inherited diabetes and deafness (MIDD), a new subtype of diabetes mellitus that cosegregates[] Over time, the retinal atrophy continued to progress, but the macular cysts did not recur.[] Eating disorders stand out as particularly complex multifaceted psychiatric illnesses with extreme morbidity and mortality.[] Results: A 57-year-old man developed intermittent myoclonic jerks in his right arm.[] Rev Endocr Metab Disord. 2003 Mar;4(1):53-9. PMID: 12618560 Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2.[] A 45-year-old woman with maternally transmitted diabetes mellitus and deafness presented with congestive heart failure.[] Parkinson, epilepsy) and/or endocrinopathies (M. Addison). Our data indicate that MIDD is a heterogeneous disease.[] One has a transposition of the great arteries, which is one of the most common congenital heart defects, and various authors have related this to maternal diabetes ( 10 ).[]

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  • MERRF Syndrome

    An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.[] September 27, 2005 Genetic and Rare Diseases Information Center (GARD) Resources - MERRF Syndrome United Mitochondrial Disease Foundation (UMDF) Muscular Dystrophy Association[] "Macular pattern dystrophy associated with a mutation of mitochondrial DNA" . American Journal of Ophthalmology 120(2):247-248. 132. Masucci, J.[] […] hypopituitarism Renal: FSGS, renal cysts, nephrotic syndrome, RTA Cardiac: cardiomyopathy, conductions defects (WPW), bundle branch block, CAD/atherosclerosis, sudden death Psychiatric[] Abstract Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome[] National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100[] Secondary features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata.[] epilepsy have been published.[] P70-P74 ) Endocrine, nutritional and metabolic diseases E70-E88 2019 ICD-10-CM Range E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital[]

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  • Autosomal Recessive Frontotemporal Pachygyria

    Congenital myopathy, Paradas type Congenital myotonia Congenital neuronal ceroid lipofuscinosis Congenital rubella syndrome Congenital toxoplasmosis Constitutional megaloblastic[] MacKay CJ, Shek MS, Carr RE, Yanuzzi LA & Gouras P (1987): Retinal degeneration with nanophthalmos, cystic macular de- generation, and angle closure glaucoma.[] […] disease and can help to elucidate specific genetic role in psychiatric disease.[] […] the classification of the disorders of cortical formation, and finally describe the main MR imaging features of these disorders.[] […] disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN9 disease COASY protein-associated neurodegeneration Carbon monoxide-induced parkinsonism Cataract-ataxia-deafness[] […] comprehensive single-volume clinical reference on the epilepsies.[] Imahorn syndrome Idiopathic hy per calciuria with Pulmonary haemosiderosis deafness Chudley Rozdilsky syndrome Multicore myopathy with mental Early-onset FECD bilateral macular[] Congenital malformations nervous system, neuronal plasticity. Biografía del autor Tomás Omar Zamora Bastidas, Univesidad del Cauca, Popayán MD. Esp.[] J Neurol Neuro- surg Psychiatr 1962: 25: 363-369. Rijk-van Andel JF, Arts WFM, Barth PG, Loonen MCB.[]

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  • Choroideremia - Deafness - Obesity Syndrome

    This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[] 3/Cone rod dystrophy GUCA1B dominant retinitis pigmentosa; dominant macular dystrophy GUCY2D Cone rod dystrophy, Leber congenital amaurosis HARS Usher syndrome HCN1 Cone[] Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent[] […] syndrome , Bardet-Biedl syndrome , Choroideremia , Laurence-Moon-Biedl syndrome , Retinohepatoendocrinologic syndrome , WAGR Syndrome Overdose / Toxicity No underlying causes Psychiatric[] Dyskeratosis congenita 0,1 Dysmorphism - short stature - deafness - pseudohermaphroditism Earlobes, thickened - conductive deafness Early infantile epileptic encephalopathy Early myoclonic[] CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007;81:104-113.[] An important gene associated with Choroideremia, Deafness, and Mental Retardation is DELXQ21 (Choroideremia, Deafness, And Mental Retardation).[] Abstract An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness[] […] deficiency 21 cases 71289 disability 20 cases69082 Odonto-tricho-ungual-digito-palmar syndrome 21 cases168593 Sudden infant death - dysgenesis of the testes 21 cases 3021 Myoclonic[]

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  • Norrie Disease

    Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular[] Coats' disease and muscular dystrophy. Trans. amer. Acad. Ophthal. Otolaryng. 72, 225–231 (1968). Google Scholar Warburg, M. Nome's disease.[] That information might also aid in understanding retinal blood vessel disorders associated with diabetes, macular degeneration, and premature birth.[] The affected males manifest congenital blindness, which is often associated with hearing loss, mental retardation and psychiatric problems.[] In a minority of cases ( 7%), the clinical spectrum of diseases also includes progressive dyspnea, pulmonary hypertension, sudden death, psychomotor retardation, myoclonic[] As is seen in humans, the mice had progressive hearing loss leading to profound deafness.[] Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition.[] The patient was diagnosed at the age of 6 months due to congenital blindness.[] Kumar Journal of Biomedical Science (2002) Coats' disease and Duchenne muscular dystrophy Andra Bobart & Donal Brosnahan Eye (2001)[]

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  • Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

    Abstract The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA.[] Understand the genetics of muscular dystrophies with absolute clarity through the use of brilliantly simple diagrams and tables, and compare your specimens to a wealth of[] Additional clinical features associated with the m.3243A G variant include short stature, cardiomyopathy, myopathy, renal disease, macular dystrophy and gastrointestinal disease[] […] symptoms and cardiac involvement 201 SLC25A4 , which encodes ADP/ATP translocase 1 Indolent or mild PEO with or without ptosis, facial weakness, mild hearing loss, psychiatric[] […] epilepsy myopathy sensory ataxia, myoclonic epilepsy with ragged-red fibers, mitochondrial recessive ataxia syndrome, neurogenic weakness with ataxia and retinitis pigmentosa[] CLINICAL ASPECTS OF MITOCHONDRIAL DISORDERS Over 270 genetic entities of mitochondrial disorders have been recorded.[] Homepage Rare diseases Search Search for a rare disease Mitochondrial myopathy-lactic acidosis-deafness syndrome Disease definition Mitochondrial myopathy-lactic acidosis-deafness[] Pagina 137 - Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. ‎[] Dystrophinopathy (Duchenne muscular dystrophy,Becker muscular dystrophy) Myotonic dystrophy 1 and 2 Facioscapulohumeral muscular dystrophy Oculopharyngeal muscular dystrophy[]

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  • Knobloch Syndrome Type 1

    Abstract An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described[] The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16.[] […] of Prematurity 790 Rhegmatogenous Retinal Detachment 801 Inner and Outer Segments 811 Outer Segment Membrane Renewal 815 Soma and Synapse 819 The Role of the Vitreous in Macular[] There is evidence for that “TXB1 haploinsufficiens may cause psychiatric disorders like ASP-1, although based only on casuistic reports” 16684884 Hair color 3 %601800 Eye[] 3 4 Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 5 Epilepsy, Progressive Myoclonic 6 4 Epilepsy, Progressive Myoclonic 7 1 Epilepsy, Progressive Myoclonic[] […] each syndrome is caused by a different mutation, for example type four of this disorder is caused by a mutation in collagen type 3.[] , Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome GJB6 Deafness IFT122 Cranioectodermal[] Epilepsy has been reported in isolated cases. Intelligence is normal.[] Systemic associations were identified in 8 patients, including learning difficulties, epilepsy, and congenital renal abnormalities.[]

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