MMDD
MCID: MYP071
MIFTS: 43

Myopathy Due to Myoadenylate Deaminase Deficiency (MMDD)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy Due to Myoadenylate Deaminase Deficiency

MalaCards integrated aliases for Myopathy Due to Myoadenylate Deaminase Deficiency:

Name: Myopathy Due to Myoadenylate Deaminase Deficiency 56 52 73 71
Myoadenylate Deaminase Deficiency 52 25 58 73
Muscle Amp Deaminase Deficiency 25 29 6 71
Amp Deaminase Deficiency 52 25 58 36
Adenosine Monophosphate Deaminase Deficiency 52 25 58
Ampd1 Deficiency 56 52 73
Mmdd 56 52 73
Mad Deficiency 25 73
Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due to 56
Adenosine Monophosphate Deaminase Deficiency Muscle Type 73
Myoadenylate Deaminase Deficiency, Myopathy Due to 56
Myopathy, Due to Myoadenylate Deaminase Deficiency 39
Adenosine Monophosphate Deaminase 1 Deficiency 52
Amp Deaminase Deficiency Muscle Type 73
Amp Deaminase 1 Deficiency 52
Exercise-Induced Myopathy 25
Mada Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
adenosine monophosphate deaminase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
some patients may be asymptomatic
variable age at onset (range infancy to late adulthood)


HPO:

31
myopathy due to myoadenylate deaminase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 615511
KEGG 36 H02237
MeSH 43 D008661
MESH via Orphanet 44 C538234
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C0268123 C2931781
Orphanet 58 ORPHA45
UMLS 71 C0268123 C3714933

Summaries for Myopathy Due to Myoadenylate Deaminase Deficiency

OMIM : 56 Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001). (615511)

MalaCards based summary : Myopathy Due to Myoadenylate Deaminase Deficiency, also known as myoadenylate deaminase deficiency, is related to glycogen storage disease v and myoglobinuria, and has symptoms including muscle weakness An important gene associated with Myopathy Due to Myoadenylate Deaminase Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1), and among its related pathways/superpathways are Purine metabolism and Metabolism of nucleotides. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are muscle spasm and limb muscle weakness

Genetics Home Reference : 25 Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.

NIH Rare Diseases : 52 Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations ) in the AMPD1 gene and is inherited in an autosomal recessive manner. Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).

KEGG : 36 AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) was discovered in patients with muscle weakness and cramping after exercise, and the mutations in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic.

UniProtKB/Swiss-Prot : 73 Myopathy due to myoadenylate deaminase deficiency: A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.

Wikipedia : 74 Adenosine monophosphate deaminase deficiency type 1, is a recessive genetic metabolic disorder that... more...

Related Diseases for Myopathy Due to Myoadenylate Deaminase Deficiency

Diseases related to Myopathy Due to Myoadenylate Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease v 29.1 AMPD3 AMPD1
2 myoglobinuria 28.8 AMPD3 AMPD1
3 erythrocyte amp deaminase deficiency 12.3
4 multiple acyl-coa dehydrogenase deficiency 11.4
5 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.3
6 multiple acyl-coa dehydrogenase deficiency, mild type 11.3
7 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 11.3
8 malignant hyperthermia 10.5
9 neuromuscular disease 10.5
10 malignant hyperthermia susceptibility 10.5
11 myopathy 10.3
12 metabolic myopathy 10.2
13 atrial standstill 1 10.2
14 cardiac conduction defect 10.2
15 myositis 10.2
16 sarcoidosis 1 10.2
17 scleroderma, familial progressive 10.2
18 myasthenia gravis 10.2
19 myopathy, congenital 10.2
20 gyrate atrophy of choroid and retina 10.2
21 brugada syndrome 10.2
22 tetanus 10.2
23 hypertrophic cardiomyopathy 10.2
24 spinal muscular atrophy 10.2
25 polyneuropathy 10.2
26 olivopontocerebellar atrophy 10.2
27 myotonia congenita 10.2
28 motor neuron disease 10.2
29 acute kidney failure 10.2
30 fibromyalgia 10.2
31 mitochondrial myopathy 10.2
32 muscular atrophy 10.2
33 muscular dystrophy 10.2
34 myotonic dystrophy 10.2
35 gigantism 10.2
36 myotonia 10.2
37 hypotonia 10.1
38 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
39 muscular disease 10.0
40 isolated elevated serum creatine phosphokinase levels 10.0
41 gout 10.0
42 spinal cord disease 10.0
43 polymyositis 10.0
44 glycogen storage disease vii 9.4 AMPD3 AMPD1

Graphical network of the top 20 diseases related to Myopathy Due to Myoadenylate Deaminase Deficiency:



Diseases related to Myopathy Due to Myoadenylate Deaminase Deficiency

Symptoms & Phenotypes for Myopathy Due to Myoadenylate Deaminase Deficiency

Human phenotypes related to Myopathy Due to Myoadenylate Deaminase Deficiency:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle spasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0003394
2 limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003690
3 exercise-induced muscle fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009020
4 exercise-induced myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003738
5 generalized hypotonia 31 occasional (7.5%) HP:0001290
6 rhabdomyolysis 31 occasional (7.5%) HP:0003201
7 muscle weakness 31 HP:0001324
8 myalgia 58 Very frequent (99-80%)
9 increased serum lactate 58 Excluded (0%)
10 increased muscle fatiguability 31 HP:0003750
11 elevated creatine kinase after exercise 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
rhabdomyolysis (in some patients)
hypotonia (in some patients)
muscle fatigue
muscle pain after exercise

Laboratory Abnormalities:
decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

Clinical features from OMIM:

615511

UMLS symptoms related to Myopathy Due to Myoadenylate Deaminase Deficiency:


muscle weakness

Drugs & Therapeutics for Myopathy Due to Myoadenylate Deaminase Deficiency

Drugs for Myopathy Due to Myoadenylate Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Neurosteroid Intervention for Menopausal and Perimenopausal Depression Recruiting NCT03505905 Phase 1, Phase 2 Pregnenolone;Placebo
2 Rhabdomyolysis in Basic Training Completed NCT00601029

Search NIH Clinical Center for Myopathy Due to Myoadenylate Deaminase Deficiency

Genetic Tests for Myopathy Due to Myoadenylate Deaminase Deficiency

Genetic tests related to Myopathy Due to Myoadenylate Deaminase Deficiency:

# Genetic test Affiliating Genes
1 Muscle Amp Deaminase Deficiency 29 AMPD1

Anatomical Context for Myopathy Due to Myoadenylate Deaminase Deficiency

MalaCards organs/tissues related to Myopathy Due to Myoadenylate Deaminase Deficiency:

40
Skeletal Muscle, Heart, Testes

Publications for Myopathy Due to Myoadenylate Deaminase Deficiency

Articles related to Myopathy Due to Myoadenylate Deaminase Deficiency:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. 56 6 61
10996775 2000
2
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. 56 6
21343608 2011
3
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. 6 56
11102975 2000
4
Molecular basis of AMP deaminase deficiency in skeletal muscle. 56 6
1631143 1992
5
Genetic characteristics of myoadenylate deaminase deficiency. 61 56
9667605 1998
6
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families. 61 56
3398878 1988
7
Myoadenylate deaminase deficiency and forearm ischemic exercise testing. 61 56
3606685 1987
8
Myoadenylate deaminase deficiency: inherited and acquired forms. 61 56
4004819 1985
9
Levels of adenylate deaminase, adenylate kinase, and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: evidence for a carrier state of myoadenylate deaminase deficiency. 56 61
6326659 1984
10
Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. 61 56
6707201 1984
11
Myoadenylate deaminase deficiency--a nonfamilial, nondisease? 56 61
6685252 1983
12
Failure of D-ribose in myoadenylate deaminase deficiency. 61 56
6130241 1983
13
Familial myoadenylate deaminase deficiency and exertional myalgia. 56 61
7201581 1982
14
Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency. 56 61
7440723 1980
15
Myoadenylate deaminase deficiency: a new disease of muscle. 56 61
644316 1978
16
A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene. 56
11331279 2001
17
Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. 56
10086964 1999
18
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. 6
7881427 1994
19
A point mutation responsible for human erythrocyte AMP deaminase deficiency. 6
8004104 1994
20
Expression of three stage-specific transcripts of AMP deaminase during myogenesis. 56
2568582 1989
21
Muscle adenylate deaminase deficiency. Report of six new cases. 56
7224911 1981
22
Adenylate deaminase deficiency in a hypotonic infant. 56
7365597 1980
23
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies. 61
32483371 2020
24
[Muscle weakness and CK elevation: is it myositis?] 61
32462339 2020
25
Significance of Asymptomatic Hyper Creatine-Kinase Emia. 61
31743252 2019
26
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency. 61
29655994 2018
27
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing. 61
28751290 2017
28
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. 61
29095874 2017
29
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study. 61
26207760 2015
30
[Genetic confirmation of myoadenylate deaminase deficiency]. 61
25297483 2014
31
Unclassified cardiomyopathies in neuromuscular disorders. 61
24154801 2013
32
Exertional rhabdomyolysis: a clinical review with a focus on genetic influences. 61
22538307 2012
33
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency. 61
21842595 2011
34
[Genetic marker of statin-induced rhabdomyolysis]. 61
21297370 2011
35
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon. 61
20682866 2010
36
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. 61
22505968 2009
37
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. 61
19353846 2009
38
Clinical use of creatine in neuromuscular and neurometabolic disorders. 61
18652078 2007
39
Genetic risk factors associated with lipid-lowering drug-induced myopathies. 61
16671104 2006
40
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. 61
16364474 2006
41
What can metabolic myopathies teach us about exercise physiology? 61
16604138 2006
42
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. 61
16040263 2005
43
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. 61
15803807 2005
44
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise]. 61
15378456 2004
45
Myotonia congenita and myoadenylate deaminase deficiency: case report. 61
12806508 2003
46
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing. 61
12635123 2003
47
[Myoadenylate deaminase deficiency among patients with myasthenia gravis--preliminary results of exercise]. 61
15058043 2003
48
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. 61
12459698 2002
49
Differentiating idiopathic inflammatory myopathies from metabolic myopathies. 61
12506771 2002
50
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. 61
12117480 2002

Variations for Myopathy Due to Myoadenylate Deaminase Deficiency

ClinVar genetic disease variations for Myopathy Due to Myoadenylate Deaminase Deficiency:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMPD1 NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter)SNV Uncertain significance, other 18271 rs17602729 1:115236057-115236057 1:114693436-114693436
2 AMPD1 NC_000001.11:g.(?_114688541)_(114695590_?)deldeletion Pathogenic 653528 1:115231162-115238211 1:114688541-114695590
3 AMPD1 NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 18272 rs35859650 1:115220593-115220593 1:114677972-114677972
4 AMPD1 NM_000036.2(AMPD1):c.1373G>A (p.Arg458His)SNV Conflicting interpretations of pathogenicity 18273 rs121912682 1:115220086-115220086 1:114677465-114677465
5 AMPD1 NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile)SNV Conflicting interpretations of pathogenicity 92330 rs61752478 1:115221116-115221116 1:114678495-114678495
6 AMPD1 NM_000036.2(AMPD1):c.1323+8G>ASNV Conflicting interpretations of pathogenicity 92331 rs140176911 1:115220523-115220523 1:114677902-114677902
7 AMPD1 NM_000036.2(AMPD1):c.134-7_134-4deldeletion Conflicting interpretations of pathogenicity 92332 rs398123114 1:115231366-115231369 1:114688745-114688748
8 AMPD1 NM_000036.2(AMPD1):c.1944C>T (p.Ile648=)SNV Conflicting interpretations of pathogenicity 166681 rs34257411 1:115216659-115216659 1:114674038-114674038
9 AMPD1 NM_000036.2(AMPD1):c.1563G>A (p.Glu521=)SNV Conflicting interpretations of pathogenicity 166682 rs80266556 1:115218549-115218549 1:114675928-114675928
10 AMPD1 NM_000036.2(AMPD1):c.481-6deldeletion Conflicting interpretations of pathogenicity 166683 rs727503806 1:115226991-115226991 1:114684370-114684370
11 AMPD1 NM_000036.2(AMPD1):c.567G>T (p.Gln189His)SNV Conflicting interpretations of pathogenicity 197620 rs139582106 1:115226899-115226899 1:114684278-114684278
12 AMPD1 NM_000036.2(AMPD1):c.1820G>A (p.Gly607Glu)SNV Conflicting interpretations of pathogenicity 286655 rs150645738 1:115217452-115217452 1:114674831-114674831
13 AMPD1 NM_000036.2(AMPD1):c.1669T>A (p.Ser557Thr)SNV Conflicting interpretations of pathogenicity 291929 rs140181682 1:115218260-115218260 1:114675639-114675639
14 AMPD1 NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile)SNV Conflicting interpretations of pathogenicity 92338 rs34526199 1:115222237-115222237 1:114679616-114679616
15 AMPD1 NM_000036.2(AMPD1):c.323G>A (p.Arg108His)SNV Conflicting interpretations of pathogenicity 166684 rs61738827 1:115229523-115229523 1:114686902-114686902
16 AMPD1 NM_000036.2(AMPD1):c.294C>T (p.Ser98=)SNV Conflicting interpretations of pathogenicity 291936 rs150208948 1:115231202-115231202 1:114688581-114688581
17 AMPD1 NM_000036.2(AMPD1):c.481-17dupduplication Conflicting interpretations of pathogenicity 291934 rs727503806 1:115226990-115226991 1:114684369-114684370
18 AMPD1 NM_000036.2(AMPD1):c.2104G>A (p.Ala702Thr)SNV Uncertain significance 847306 1:115216340-115216340 1:114673719-114673719
19 AMPD1 NM_000036.2(AMPD1):c.133+8T>CSNV Uncertain significance 291938 rs886045096 1:115236049-115236049 1:114693428-114693428
20 AMPD1 NM_000036.2(AMPD1):c.1572C>T (p.Ile524=)SNV Uncertain significance 291930 rs145557954 1:115218540-115218540 1:114675919-114675919
21 AMPD1 NM_000036.2(AMPD1):c.523C>T (p.Arg175Trp)SNV Uncertain significance 291933 rs369963978 1:115226943-115226943 1:114684322-114684322
22 AMPD1 NM_000036.2(AMPD1):c.202C>T (p.Arg68Cys)SNV Uncertain significance 291937 rs139512772 1:115231294-115231294 1:114688673-114688673
23 AMPD1 NM_000036.2(AMPD1):c.1750A>T (p.Asn584Tyr)SNV Uncertain significance 291928 rs886045095 1:115218179-115218179 1:114675558-114675558
24 AMPD1 NM_000036.2(AMPD1):c.599G>A (p.Arg200Gln)SNV Uncertain significance 291932 rs368656142 1:115226867-115226867 1:114684246-114684246
25 AMPD1 NM_000036.2(AMPD1):c.780T>C (p.Asp260=)SNV Uncertain significance 291931 rs201988963 1:115222966-115222966 1:114680345-114680345
26 AMPD1 NM_000036.2(AMPD1):c.2246G>A (p.Arg749Gln)SNV Uncertain significance 291926 rs886045093 1:115215832-115215832 1:114673211-114673211
27 AMPD1 NM_000036.2(AMPD1):c.2025A>G (p.Leu675=)SNV Uncertain significance 291927 rs886045094 1:115216578-115216578 1:114673957-114673957
28 AMPD1 NM_000036.2(AMPD1):c.322C>T (p.Arg108Cys)SNV Uncertain significance 291935 rs12566550 1:115229524-115229524 1:114686903-114686903
29 AMPD1 NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys)SNV Uncertain significance 91871 rs587779370 1:115218614-115218614 1:114675993-114675993
30 AMPD1 NM_000036.2(AMPD1):c.2281C>T (p.Arg761Cys)SNV Uncertain significance 547862 rs777802711 1:115215797-115215797 1:114673176-114673176
31 AMPD1 NM_000036.2(AMPD1):c.1157A>C (p.Tyr386Ser)SNV Uncertain significance 641932 1:115220988-115220988 1:114678367-114678367
32 AMPD1 NM_000036.2(AMPD1):c.980T>G (p.Phe327Cys)SNV Uncertain significance 639491 1:115222216-115222216 1:114679595-114679595
33 AMPD1 NM_000036.2(AMPD1):c.611G>A (p.Gly204Asp)SNV Likely benign 559258 rs142582318 1:115226855-115226855 1:114684234-114684234
34 AMPD1 NM_000036.2(AMPD1):c.422C>T (p.Thr141Ile)SNV Likely benign 576813 rs547487220 1:115229424-115229424 1:114686803-114686803
35 AMPD1 NM_000036.2(AMPD1):c.480+1G>CSNV Likely benign 747527 1:115229365-115229365 1:114686744-114686744
36 AMPD1 NM_000036.2(AMPD1):c.651T>C (p.Phe217=)SNV Benign 529205 rs35197706 1:115223095-115223095 1:114680474-114680474
37 AMPD1 NM_000036.2(AMPD1):c.342T>G (p.Thr114=)SNV Benign 779634 1:115229504-115229504 1:114686883-114686883
38 AMPD1 NM_000036.2(AMPD1):c.198A>G (p.Gly66=)SNV Benign 92333 rs61752480 1:115231298-115231298 1:114688677-114688677
39 AMPD1 NM_000036.2(AMPD1):c.2046T>C (p.Asp682=)SNV Benign 92334 rs34287100 1:115216557-115216557 1:114673936-114673936
40 AMPD1 NM_000036.2(AMPD1):c.314+10G>ASNV Benign 92335 rs6683173 1:115231172-115231172 1:114688551-114688551
41 AMPD1 NM_000036.2(AMPD1):c.2010C>T (p.Phe670=)SNV Benign 166680 rs34778674 1:115216593-115216593 1:114673972-114673972

UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Myoadenylate Deaminase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 AMPD1 p.Arg421Trp VAR_013271 rs35859650
2 AMPD1 p.Arg458His VAR_013272 rs121912682

Expression for Myopathy Due to Myoadenylate Deaminase Deficiency

Search GEO for disease gene expression data for Myopathy Due to Myoadenylate Deaminase Deficiency.

Pathways for Myopathy Due to Myoadenylate Deaminase Deficiency

Pathways related to Myopathy Due to Myoadenylate Deaminase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230

GO Terms for Myopathy Due to Myoadenylate Deaminase Deficiency

Biological processes related to Myopathy Due to Myoadenylate Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide metabolic process GO:0009117 9.37 AMPD3 AMPD1
2 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.32 AMPD3 AMPD1
3 purine-containing compound salvage GO:0043101 9.26 AMPD3 AMPD1
4 AMP metabolic process GO:0046033 9.16 AMPD3 AMPD1
5 IMP salvage GO:0032264 8.96 AMPD3 AMPD1
6 IMP biosynthetic process GO:0006188 8.62 AMPD3 AMPD1

Molecular functions related to Myopathy Due to Myoadenylate Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 deaminase activity GO:0019239 8.96 AMPD3 AMPD1
2 AMP deaminase activity GO:0003876 8.62 AMPD3 AMPD1

Sources for Myopathy Due to Myoadenylate Deaminase Deficiency

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