AMPD3 gene related symptoms and diseases
All the information presented here about the AMPD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AMPD3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Fatigue | Very Common - Between 80% and 100% cases |
| Myalgia | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Increased serum lactate | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AMPD3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Exercise-induced muscle fatigue
- Increased muscle fatiguability
- Exercise-induced myalgia
- Chronic fatigue
- Rhabdomyolysis
- Easy fatigability
- Infantile muscular hypotonia
- Stroke
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AMPD3 gene
Here you will find a list of rare diseases related to the AMPD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY
Alternate names
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency, amp deaminase deficiency, myoadenylate deaminase deficiency, myopathy due to, adenosine monophosphate deaminase-1 deficiency, myopathy due to, myoadenylate deaminase deficiency
Description
Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
Most common symptoms of ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY
- Generalized hypotonia
- Muscle weakness
- Pain
- Skeletal muscle atrophy
- Macrocephaly
More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY
ERYTHROCYTE AMP DEAMINASE DEFICIENCY
Description
Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989).
Most common symptoms of ERYTHROCYTE AMP DEAMINASE DEFICIENCY
- Pain
- Fatigue
- Myalgia
More info about ERYTHROCYTE AMP DEAMINASE DEFICIENCY
SOURCES: OMIM
Search interest in AMPD3
Potential gene panels for AMPD3 gene
AMP deaminase deficiency, erythrocytic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AMPD3 gene.
More info about this panel Germany.
Adenosine Monophosphate Deaminase Deficiency, Erythrocytic: AMPD3 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the AMPD3 gene.
More info about this panel United States.
Adenosine Monophosphate Deaminase Deficiency, Erythrocytic: AMPD3 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the AMPD3 gene.
More info about this panel United States.
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Neuromuscular NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
AMPD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMPD3 gene.
More info about this panel United States.
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY (MYOADENYLATE DEAMINASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY (MYOADENYLATE DEAMINASE DEFICIENCY) that also includes the following genes: AMPD1 AMPD3
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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