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13 results
  1. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... myopathy with fiber type disproportion, see Congenital fiber-type disproportion Congenital ... neuronal ceroid lipofuscinosis, see CLN10 disease Congenital ...
  2. PMM2-CDG (CDG-Ia) - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. Nephrol ... of glycosylation type Ia: Heterogeneity I the clinical presentation from multivisceral ...
  3. Kidney Diseases | Renal Disease | MedlinePlus 
    https://medlineplus.gov/kidneydiseases.html
    ... urinary tract: MedlinePlus Genetics (National Library of Medicine) Congenital nephrotic syndrome: MedlinePlus Genetics (National Library of Medicine) Cystinosis: MedlinePlus ...
  4. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1332
    ... CDG ( CDG-Ia ). Enlarged kidneys, renal cysts, and congenital nephrotic syndrome have been reported in individuals with PMM2-CDG ( ... Horsfield C, Komaromy D, Booth C, Champion M. Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. Nephrol Dial Transplant. 2009; 24 :2591–4. [ PubMed : ...
  5. ZAP70-Related Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK20221
    ... infections and silent brain infarcts; one also had congenital nephrotic syndrome and autoimmune hemolytic anemia [ Akar et al 2015 ]. ...
  6. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... Syndrome (OMIM) Immune Cell Defect Gene Associated w/nephrotic syndrome Conorenal syndrome ( 266920 ) IFT140 Nail-patella syndrome LMX1B ... high-dose steroids for empiric treatment of the nephrotic syndrome can evoke cerebral ischemia. Heat, stress, and lack ...
  7. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... pseudo-hermaphroditism and/or renal disease (glomerulonephritis or nephrotic syndrome) who develop Wilms tumor may have Denys-Drash ... Frasier syndromes. Denys-Drash syndrome is characterized by nephrotic syndrome caused by diffuse mesangial sclerosis, XY pseudohermaphroditism, and ...
  8. Hereditary Ataxia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1138
    ... SCA5 [SCAR5]) Optic atrophy Skin abnormalities Microcephaly Seizures Nephrotic syndrome Jinks et al [2015] / 251300 WWOX AR SCA ... the AFG3L2 proteolytic domain causes a mild cerebellar syndrome with selective type-1 muscle fiber atrophy. Cerebellum. 2017; 16 :62– ...
  9. Hemophilia B - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1495
    ... anaphylaxis to transfused factor IX or development of nephrotic syndrome [ DiMichele 2007 , Chitlur et al 2009 ]. Genotype-Phenotype ... with anaphylactic reactions to factor IX infusion and nephrotic syndrome [ DiMichele 2007 , Chitlur et al 2009 ]. Immune tolerance ...
  10. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... mitochondrial cofactor biosynthesis PDSS2 7 <1% Refractory seizures Nephrotic syndrome Complexes I+III, II+III, & coenzyme Q 10 ... NARP [GeneReviews ® . 1993] Review Mitochondrial DNA-Associated Leigh Syndrome and NARP ... Hernia Overview [GeneReviews ® . 1993] Review Congenital Diaphragmatic ...
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