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Results 11 - 20 of 45 for Factor H deficiency
  1. Hyperlysinemia 
    ... DM, Gucsavas-Calikoglu M, Wanders RJ. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014 Sep ... Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  2. Warfarin resistance 
    ... in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature. 2004 Feb 5;427(6974): ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
  3. Trichothiodystrophy 
    ... a group of proteins called the general transcription factor 2 H (TFIIH) complex. This complex is involved in the ... WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin ... disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  4. Hereditary angioedema 
    ... edema Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Hereditary angioedema National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/hereditary-angioedema - Genetics
  5. Alpha-1 antitrypsin deficiency 
    ... Free article on PubMed Central Lomas DA, Parfrey H. Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax. 2004 Jun;59(6): ...
    https://medlineplus.gov/.../condition/alpha-1-antitrypsin-deficiency - Genetics
  6. Adenosine monophosphate deaminase deficiency 
    ... NORD) ClinicalTrials.gov MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD PubMed Fischer H, Esbjornsson M, Sabina RL, Stromberg A, Peyrard-Janvid ...
    https://medlineplus.gov/...nosine-monophosphate-deaminase-deficiency - Genetics
  7. Dihydropyrimidinase deficiency 
    ... J, van Kuilenburg A, van Gennip A, Togari H, Wada Y. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  8. Combined pituitary hormone deficiency 
    ... be congenital or acquired. Acquired combined pituitary hormone deficiency is caused by factors that occur later in life, such as infections ... Gurbuz F, Yuksel B. Mutations Within the Transcription Factor PROP1 in a ... Pituitary Hormone Deficiency. J Clin Res Pediatr Endocrinol. 2020 Sep 2; ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  9. Anencephaly 
    ... factor for neural tube defects, there are many factors that can contribute to folate deficiency. Changes in other genes related to folate processing ... causing the condition.Researchers have also examined environmental factors that ... Folate deficiency plays a significant role. Studies have shown that ...
    https://medlineplus.gov/genetics/condition/anencephaly - Genetics
  10. Ornithine translocase deficiency 
    ... signs and symptoms in some affected individuals. Other factors, many unknown, also contribute to the variable severity of ornithine translocase deficiency.Because ornithine translocase deficiency is caused by problems ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
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