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3,802 Possible Causes for Failure to Thrive, 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] Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear[ncbi.nlm.nih.gov]

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with a failure to thrive and with signs of renal proximal tubular damage[ncbi.nlm.nih.gov] The history of muscle weakness, failure to thrive, polydipsia, and polyuria prompted subsequent clinical and laboratory evaluations, leading to the correct diagnosis of cystinosis[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nephropathic Cystinosis

    OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.[ncbi.nlm.nih.gov] One patient presented with classic features of Fanconi's syndrome with failure to thrive and rickets, while the other had polyuria, growth failure and rickets.[ncbi.nlm.nih.gov] (CTNS) gene.[ncbi.nlm.nih.gov]

    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] Definition A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life.[uniprot.org] Thyroid Res Pract 2017;14:130-2 Introduction Neonatal severe primary hyperparathyroidism (NSPHT) is rare disease in neonates, characterized by hypercalcemia, failure to thrive[thetrp.net]

    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] Due to the salt loss, the children’s weight gain is poor and they demonstrate a general failure to thrive.[tidsskriftet.no] 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]

    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] Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] Research of Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome has been linked to Microcephaly, Hereditary Diseases, Failure To Thrive, Peripheral Neuropathy[novusbio.com]

    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] Main clinical findings are polyuria, failure to thrive, rickets/osteomalacia, metabolic acidosis, bone deformities, and, occasionally, nephrocalcinosis.[ncbi.nlm.nih.gov] Symptoms in children are failure to thrive, growth retardation, and rickets. Symptoms in adults are osteomalacia and muscle weakness.[msdmanuals.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Autosomal Dominant Myoglobinuria

    In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] […] in the HNF4A gene ( OMIM ) on chromosome 20q13.[mendelian.co] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]

  • Hyperdibasic Aminoaciduria Type 1

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] Patients stricken by this disorder, in general, return to medical attention from too soon in life with many important issues together with failure to thrive and intellectual[humandiseaseinsight.com] Clinical findings in LPI patients include: vomiting, diarrhea, failure to thrive, hepatosplenomegaly, bone marrow abnormalities, osteoporosis, episodes of coma, mental retardation[humpath.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Oculocerebrorenal Syndrome

    Genetics It is associated with mutation in the gene OCRL.[wikidoc.org] We discuss 5 boys with congenital cataracts, hypotonia, developmental delay, failure to thrive and the renal Fanconi syndrome who were diagnosed with the Lowe syndrome and[ncbi.nlm.nih.gov] Symptoms - Lowe oculocerebrorenal syndrome * Mental retardation * Hypotonia * Hyperactivity * Choreoathetoid movements * Screaming * Blindness * Feeding difficulty * Failure[checkorphan.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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