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969 Possible Causes for Failure to Thrive in Infancy, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Cystinosis is typically diagnosed in infancy. Cystinosis typically presents with failure to thrive and a Fanconi syndrome in early infancy.[radiopaedia.org] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nephropathic Cystinosis

    OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.[ncbi.nlm.nih.gov] (CTNS) gene.[ncbi.nlm.nih.gov] Onofrio, 4, 00165, Rome, Italy. taranta@opbg.net Abstract Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Pseudohypoaldosteronism of Infancy

    Science 285: 103–106 PubMed CrossRef Google Scholar Town M, Jean G, Cherqui S et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis[link.springer.com] Abstract Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance presenting in infancy with renal salt wasting and failure to thrive.[ncbi.nlm.nih.gov] PHA1 presents with potential life-threatening salt wasting and failure to thrive in early infancy.[ijcasereportsandimages.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Laron Syndrome with Immunodeficiency

    A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature genetics, 18, 319.[centogene.com] […] to thrive in infancy Insulin-resistant diabetes mellitus Abnormal heart morphology Retrognathia Natal tooth Midface retrusion Congenital diaphragmatic hernia Bilateral sensorineural[mendelian.co] The disease is caused by mutations in the CTNS gene 10 and follows an autosomal recessive mode of inheritance.[centogene.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Neonatal Severe Primary Hyperparathyroidism

    ., Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.[scindeks.ceon.rs] Additional features of NSPHT include failure to thrive, bony under-mineralization, multiple fractures, and ribcage deformity. [1], [2] In our patient, PTH-mediated severe[thetrp.net] It often presents in the first few days of life with severe PTH-dependent hypercalcemia, hypotonia, irritability, failure to thrive, constipation and respiratory distress[theijcp.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Waters-West Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] […] to thrive in infancy Shock Limb hypertonia Thick hair Diarrhea Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Frontotemporal[mendelian.co] […] congenital partial atresia of Crouzon syndrome Acrocephalopolydactylous dysplasia Perlman syndrome Chromosome 15q deletion Cardiomyopathy and deafness due to tRNA lysine gene[checkrare.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] Infancy and childhood Recurrent respiratory infections. Diarrhoea. Failure to thrive (thriving does not exclude diagnosis). Rectal prolapse.[patient.info] GI tract presentation in early infancy may be in the form of steatorrhea, failure to thrive, or both.[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • CAMFAK Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] CAMFAK syndrome is an inherited disease characterized by congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis with onset in early infancy.[ncbi.nlm.nih.gov] Intrauterine growth retardation Severe global developmental delay Failure to thrive Ventriculomegaly Decreased fetal movement Polyhydramnios Peripheral neuropathy Myopathy[mendelian.co]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Fanconi Renotubular Syndrome

    The phenotype severity in cystinosis appears to vary with the mutations in the CTNS gene.[emedicine.medscape.com] At a Glance The clinical findings of (renal) Fanconi syndrome are that of polyuria, polydipsia, failure to thrive and risk of dehydration in infancy and/or early child hood[cancertherapyadvisor.com] Genetics Cystinosis is an autosomal recessive disease that is found in individuals homozygous for mutations in the CTNS gene (17p13) that encodes cystinosin.[disorders.eyes.arizona.edu]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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