HACD59
MCID: HML042
MIFTS: 33
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Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy (HACD59)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...
MalaCards integrated aliases for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:
Name: Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy
57
Characteristics:Orphanet epidemiological data:58
primary cd59 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy (3 to 7 months) exacerbations during infection relapsing-remitting course immunosuppressive therapy may be beneficial HPO:31
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Blood diseases Immune diseases Muscle diseases
ICD10:
33
Orphanet: 58
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OMIM® :
57
CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013). (612300) (Updated 05-Mar-2021)
MalaCards based summary : Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy, also known as cd59 deficiency, is related to chronic inflammatory demyelinating polyradiculoneuropathy and paroxysmal nocturnal hemoglobinuria, and has symptoms including hand and foot weakness An important gene associated with Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy is CD59 (CD59 Molecule (CD59 Blood Group)). Affiliated tissues include skeletal muscle, brain and bone marrow, and related phenotypes are skeletal muscle atrophy and hemolytic anemia UniProtKB/Swiss-Prot : 73 Hemolytic anemia, CD59-mediated, with or without polyneuropathy: An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia. |
Symptoms & Phenotypes for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...
Human phenotypes related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:612300 (Updated 05-Mar-2021)UMLS symptoms related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:hand and foot weakness |
Drugs & Therapeutics for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...
Interventional clinical trials:
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MalaCards organs/tissues related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:40
Skeletal Muscle,
Brain,
Bone Marrow,
Bone,
Kidney,
Endothelial
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Articles related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:(show all 48)
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ClinVar genetic disease variations for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:6
UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:73
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Search
GEO
for disease gene expression data for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy.
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