Erythrocyte amp deaminase deficiency

Preferred Label : Erythrocyte amp deaminase deficiency;

Type : Phenotype, molecular basis known;

Description : Ogasawara et al. (1987) observed 6 related individuals with complete deficiency of erythrocyte AMP deaminase (isozyme E). All were healthy and had no hematologic disorders. The ATP level was approximately 150% higher in AMP-deficient red cells compared to the level in the control cells. Degradation of adenine nucleotide was slower in the deficient erythrocytes than in the control erythrocytes.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenosine monophosphate deaminase-3, isoform E gene (AMPD3, 102772.0001);

Prefixed ID : #612874;

Details

Origin ID

612874;

UMLS CUI

C2752073;

Currated CISMeF NLP mapping
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Deficiency of adenosine monophosphate deaminase (disorder) [SNOMED CT concept]
- erythrocyte amp deaminase deficiency [MeSH concept]
- erythrocyte amp deaminase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Adenosine monophosphate deaminase 3 [OMIM gene]
ORDO concept(s)
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- erythrocyte amp deaminase deficiency [MeSH Supplementary Concept]
- erythrocyte amp deaminase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients