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AMPD1

Synonyms
MAD, MADA, MMDD
External resources
Summary
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
29
Likely pathogenic
1
VUS
5,519
Likely benign
6,950
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on AMPD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30%
Abnormality of the eye
16.7%
Abnormality of the musculoskeletal system
13.3%
Abnormality of the cardiovascular system
10%
Abnormality of the genitourinary system
10%
Abnormality of the digestive system
6.7%
Abnormality of the integument
6.7%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of head or neck
3.3%
Abnormality of prenatal development or birth
3.3%
Abnormality of the ear
3.3%
Growth abnormality
3.3%
Neoplasm
3.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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