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Results 1 - 10 of 13 for Inherited bone marrow failure syndrome
  1. Ataxia-pancytopenia syndrome 
    ... have been described in the medical literature. Ataxia-pancytopenia syndrome is caused by inherited mutations in the SAMD9L gene. The protein produced ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  2. SAMD9L gene 
    ... the protein's function there. At least four inherited mutations in the SAMD9L gene have been found to cause ataxia-pancytopenia syndrome, a rare condition that affects the cerebellum and ...
    https://medlineplus.gov/genetics/gene/samd9l - Genetics
  3. Dyskeratosis congenita 
    ... IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  4. Shwachman-Diamond syndrome 
    ... Fujiwara TM, Durie PR, Rommens JM. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  5. Pearson syndrome 
    ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ... a lack of cellular energy. mitochondrial dna Pearson syndrome is generally not inherited but arises from new (de novo) mutations that ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  6. Coats plus syndrome 
    Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  7. Chanarin-Dorfman syndrome 
    ... to the signs and symptoms of Chanarin-Dorfman syndrome. ABHD5 This condition is inherited in an autosomal recessive pattern, which means both ... on PubMed Cakmak E, Bagci G. Chanarin-Dorfman Syndrome: A ... in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res. 2008 ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  8. Waldenström macroglobulinemia 
    ... development, causing a shortage of healthy blood cells ... syndrome. Features related to hyperviscosity syndrome include bleeding in ...
    https://medlineplus.gov/.../condition/waldenstrom-macroglobulinemia - Genetics
  9. Cartilage-hair hypoplasia 
    ... Cartilage-hair syndrome CHH McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, recessive ... Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008 May;141( ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  10. PGM3-congenital disorder of glycosylation 
    ... all blood cells, resulting in a condition called bone marrow failure. Affected individuals usually also have allergies, asthma, or ... CDG have immune deficiency. PGM3 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
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