Anemia, congenital, nonspherocytic hemolytic, 8

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 8;

Symbol : CNSHA8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to; Hemolytic anemia due to p5n deficiency; Umph1 deficiency; P5n deficiency; Hemolytic anemia due to umph1 deficiency; Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to;

Description : Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Hirono et al. (1988) suggested that this deficiency is the third most common RBC enzymopathy--after G6PD (300908) and pyruvate kinase (see 266200) deficiencies--causing hemolysis (summary by Marinaki et al., 2001).;

Inheritance : Autosomal recessive; probable heterogeneity;

Prefixed ID : #266120;

Details

Origin ID

266120;

UMLS CUI

C1849507;

Automatic exact mappings (from CISMeF team)
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]
- uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to [MeSH concept]
CISMeF manual mappings
- uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
DO Cross reference
- hemolytic anemia [DO Concept]
Genes related to phenotype
- 5-prime-nucleotidase, cytosolic iiia [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hemoglobinuria [HPO term]
- Hemolytic anemia [HPO term]
ORDO concept(s)
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]
- uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
- uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients