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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
18
Likely pathogenic
0
VUS
3,741
Likely benign
1,843
Benign
4

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on AMPD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27.8%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
16.7%
Abnormality of the integument
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the genitourinary system
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
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%
Growth abnormality
0%

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