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3,631 Possible Causes for Autosomal Recessive, Pediatric Disorder

  • Winchester Syndrome

    Winchester syndrome is a genetic disorder inherited in an autosomal recessive pattern.[symptoma.com] Definition / general Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone Terminology Molluscum fibrosum in children[pathologyoutlines.com] Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study.[winchesterhospital.org]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[ncbi.nlm.nih.gov] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] Adv Pediatr 33:269–302, 1986. PubMed Google Scholar 17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.[link.springer.com]

  • Congenital Nephrotic Syndrome

    recessive mode of inheritance.[ncbi.nlm.nih.gov] Inherited renal disorders -- part J. Urologic disorders -- part K. Research tools. "@ en ; schema:editor ; # Kanwal K. Kher schema:editor ; # H.[worldcat.org] LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset[ncbi.nlm.nih.gov]

  • Hallervorden-Spatz Syndrome

    From Wikidata Jump to navigation Jump to search A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in[wikidata.org] […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[books.google.com] Molecular & Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, Oregon, USA Correspondence to Susan J.[journals.lww.com]

  • Rothmund Thomson Syndrome

    Abstract Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8.[ncbi.nlm.nih.gov] Petty, SKELETAL MALIGNANCIES AND RELATED DISORDERS, Textbook of Pediatric Rheumatology, 10.1016/B978-1-4160-0246-8.50045-0, (728-743), (2005). Snehal G.[doi.org] Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases[ncbi.nlm.nih.gov]

  • Congenital Dyserythropoietic Anemia

    CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41.[ncbi.nlm.nih.gov] Hereditary Elliptocytosis and Related Disorders Pediatric Lead Toxicity Pediatric Megaloblastic Anemia Pediatric Myelodysplastic Syndrome Sickle Cell Anemia Transient Erythroblastopenia[emedicine.medscape.com] Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts[ncbi.nlm.nih.gov]

  • Gaucher Disease

    Germline mutations or mosiacism are not generally associated with autosomal recessive disorders.[ncbi.nlm.nih.gov] Society, Society for Pediatric Research, Society for Inherited Metabolic Disorders Disclosure: Nothing to disclose.[emedicine.com] Abstract Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of[ncbi.nlm.nih.gov]

  • Alpers Syndrome

    Abstract Alpers-Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and[ncbi.nlm.nih.gov] […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[books.google.de] It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity[ncbi.nlm.nih.gov]

  • Papillon Lefevre Disease

    Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal infection.[ncbi.nlm.nih.gov] Mucous membrane disorders. In: Pediatric Dermatology (Schachner LA, Hansen RC, eds), 1st Edn. New York: Churchill Livingstone, 1988; 482-3. 7. Carson EF.[ijdvl.com] Papillon, French dermatologist, 20th century; Paul Lefèvre, French dermatologist, 20th century an autosomal-recessive disorder occurring between the first and fifth years[medical-dictionary.thefreedictionary.com]

  • Hereditary Fructose Intolerance

    PKU and HFI are two inborn errors of metabolism which have an autosomal recessive mode of inheritance.[ncbi.nlm.nih.gov] Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 87. Kishnani PS, Chen Y-T. Disorders of carbohydrate metabolism. In: Howell RR, ed.[mountsinai.org] Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose.[ncbi.nlm.nih.gov]

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