Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy

Preferred Label : Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy;

Symbol : HACD59;

CISMeF acronym : HACD59;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cd59 deficiency;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD59 antigen gene (CD59, 107271.0001);

Laboratory abnormalities : Increased CSF protein; Absence of CD59 expression on red cells;

Prefixed ID : #612300;

Détails

Origin ID

612300;

UMLS CUI

C2676767;

Automatic exact mappings (from CISMeF team)
- CD59.deficient [LOINC component]
Currated CISMeF NLP mapping
- CD59 deficiency [MeSH concept]
- CD59 deficiency [MeSH Supplementary Concept]
- Primary CD59 deficiency [ORDO Disease]
- Primary CD59 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Cd59 antigen [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Hemolytic anemia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Limb muscle weakness [HPO term]
- Paralysis [HPO term]
- Paroxysmal nocturnal hemoglobinuria [HPO term]
- Polyneuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Primary CD59 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CD59 deficiency [MeSH Supplementary Concept]
- CD59 deficiency [MeSH concept]
- Primary CD59 deficiency [ORDO Disease]

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