ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES

General Information (adopted from Orphanet):

Synonyms, Signs: PYRUVATE KINASE HYPERACTIVITY
Number of Symptoms 7
OrphanetNr:
OMIM Id: 102900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001901) Polycythemia 16 / 7739
2
(OMIM) Low 2,3-diphosphoglycerate (2,3-DPG) 1 / 7739
3
(OMIM) High erythrocyte adenosine triphosphate 1 / 7739
4
(HPO:0030271) Reduced erythrocyte 2,3-diphosphoglycerate concentration 2 / 7739
5
(OMIM) Additional PK electrophoretic bands 1 / 7739
6
(OMIM) Pyruvate kinase hyperactivity 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: