Create issue ticket

1,866 Possible Causes for Autosomal Dominant, Hemolytic Anemia, Pediatric Disorder

  • Hereditary Spherocytosis

    Hereditary spherocytosis (HS) and pyruvate kinase (PK) deficiency are the most common causes of congenital hemolytic anemia.[ncbi.nlm.nih.gov] The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com]

  • Acute Hepatic Porphyria

    anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase deficiency ( E29.1 ) Metabolic disorders E80 ICD-10-CM Diagnosis Code E80[icd10data.com] Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com]

  • Erythropoietic Porphyria

    Congenital erythropoietic porphyria with hemolytic anemia.[e-ijd.org] Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] It is inherited in an autosomal dominant pattern.[genome.gov]

  • Congenital Dyserythropoietic Anemia

    She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period.[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] Inherited • Autosomal dominant • Cause: uroporphyrinogen III decarboxylase e* • Urine: uroporphyrin III and uroporphyrin I • Feces: protoporphyrin, coproporphyrin 2.[quizlet.com]

  • Distal Renal Tubular Acidosis

    We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene.[ncbi.nlm.nih.gov] Hulton National Institute on Deafness and Other Communication Disorders, Rockville, Maryland, USA Doris K.[doi.org] DRTA can be autosomal dominant or autosomal recessive.[ncbi.nlm.nih.gov]

  • Chronic Mucocutaneous Candidiasis

    Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.[ncbi.nlm.nih.gov] Pediatr Infect Dis J. vol. 20. 2001 Feb. pp. 197-206. (This is another review article that goes into greater depth regarding the different CMC disorders.)[dermatologyadvisor.com] The cause of autosomal dominant CMC is unknown. METHODS: We evaluated 14 patients from five families with autosomal dominant CMC.[ncbi.nlm.nih.gov]

  • Anemia

    Anyone of any age can develop hemolytic anemia.[healthline.com] One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[childrenshospital.org] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[orpha.net]

  • Hypogammaglobulinemia

    AIHA, Autoimmune hemolytic anemia; FVC, forced vital capacity; ITP, idiopathic thrombocytopenic purpura; TLC, total lung capacity.[ncbi.nlm.nih.gov] Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr. 2008 Aug. 153(2):293-6. [Medline].[emedicine.com] The disorder, which is inherited as an autosomal dominant trait, is caused by heterozygous mutations of the chemokine receptor CXCR4.[ncbi.nlm.nih.gov]

  • Hereditary Coproporphyria

    Three siblings with intense jaundice and hemolytic anemia at birth were found to excrete a high level of coproporphyrin in their urine and feces; the pattern of fecal porphyrin[ncbi.nlm.nih.gov] Abstract Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria.[ncbi.nlm.nih.gov] The disease typically presents at birth with severe neonatal jaundice and hemolytic anemia.[ncbi.nlm.nih.gov]

  • Congenital Hemolytic Anemia

    Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders.[en.wikipedia.org] Hemolytic anemia Hereditary elliptocytosis Hereditary pyropoikilocytosis Red cell membrane disorder Pediatrics, Perinatology, and Child Health Hematology Oncology Cite this[scholars.northwestern.edu] An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes.[icd9data.com]

Similar symptoms