AMPD1 - Gene browser | 3billion

AMPD1

AMPD1

adenosine monophosphate deaminase 1

HCNC Approved Symbol: AMPD1 (HGNC:468)
Genomic Coordinates: 1:114,673,098 - 114,695,546 (1p13.2)
Synonyms: MAD, MADA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the AMPD1 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

02
Patient count

Abnormal circulating creatine kinase concentration: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Muscle weakness: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Myopathy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

AMPD1 - Gene browser | 3billion