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Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to

MedGen UID:
341470
Concept ID:
C1849507
Disease or Syndrome
Synonyms: HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY; HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY; P5N DEFICIENCY; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; UMPH1 DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): NT5C3A (7p14.3)
OMIM®: 266120
Orphanet: ORPHA35120

Definition

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). [from OMIM]

Clinical features

From HPO
Hemoglobinuria
MedGen UID:
6792
Concept ID:
C0019048
Finding
A laboratory test result which indicates free hemoglobin in the urine.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Hemoglobinuria
MedGen UID:
6792
Concept ID:
C0019048
Finding
A laboratory test result which indicates free hemoglobin in the urine.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Follow this link to review classifications for Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to in Orphanet.

Recent clinical studies

Diagnosis

Al-Jafar HA, Layton DM, Robertson L, Escuredo E, Bain BJ
Am J Hematol 2013 Dec;88(12):1089. Epub 2013 Aug 30 doi: 10.1002/ajh.23556. PMID: 23897698

Therapy

Al-Jafar HA, Taqi A, Madda JP, Abdullah TA
BMJ Case Rep 2013 Nov 28;2013 doi: 10.1136/bcr-2013-201061. PMID: 24287477Free PMC Article

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