MMDD
MCID: MYP071
MIFTS: 45

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 erythrocyte amp deaminase deficiency, 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 exercise-induced muscle fatigue 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:

(showing 44, show less)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease v 29.0 AMPD3 AMPD1
2 erythrocyte amp deaminase deficiency 12.3
3 multiple acyl-coa dehydrogenase deficiency 11.4
4 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.3
5 multiple acyl-coa dehydrogenase deficiency, mild type 11.3
6 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 11.3
7 malignant hyperthermia 10.5
8 neuromuscular disease 10.5
9 malignant hyperthermia susceptibility 10.5
10 myopathy 10.3
11 metabolic myopathy 10.2
12 atrial standstill 1 10.2
13 cardiac conduction defect 10.2
14 myositis 10.2
15 sarcoidosis 1 10.2
16 scleroderma, familial progressive 10.2
17 myasthenia gravis 10.2
18 myopathy, congenital 10.2
19 gyrate atrophy of choroid and retina 10.2
20 brugada syndrome 10.2
21 tetanus 10.2
22 spinal muscular atrophy 10.2
23 polyneuropathy 10.2
24 olivopontocerebellar atrophy 10.2
25 myotonia congenita 10.2
26 motor neuron disease 10.2
27 acute kidney failure 10.2
28 fibromyalgia 10.2
29 mitochondrial myopathy 10.2
30 muscular atrophy 10.2
31 muscular dystrophy 10.2
32 myotonic dystrophy 10.2
33 hypertrophic cardiomyopathy 10.2
34 gigantism 10.2
35 myotonia 10.2
36 hypotonia 10.1
37 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
38 muscular disease 10.0
39 myoglobinuria 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 9.2 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 (showing 12, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exercise-induced muscle fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009020
2 limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003690
3 exercise-induced myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003738
4 muscle spasm 31 hallmark (90%) HP:0003394
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 muscle cramps 58 Very frequent (99-80%)
11 elevated creatine kinase after exercise 58 Excluded (0%)
12 increased muscle fatiguability 31 HP:0003750

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):

(showing 3, show less)
# 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 1994-09-7, 94-09-7 2337
3 Neurotransmitter Agents Phase 1, Phase 2

Interventional clinical trials:

(showing 2, show less)
# 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, Bone, Retina, Spinal Cord, Kidney

Publications for Myopathy Due to Myoadenylate Deaminase Deficiency

Articles related to Myopathy Due to Myoadenylate Deaminase Deficiency:

(showing 111, show less)
# 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. 61 56 6
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. 56 6
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. 61 56
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? 61 56
6685252 1983
12
Failure of D-ribose in myoadenylate deaminase deficiency. 61 56
6130241 1983
13
Familial myoadenylate deaminase deficiency and exertional myalgia. 61 56
7201581 1982
14
Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency. 61 56
7440723 1980
15
Myoadenylate deaminase deficiency: a new disease of muscle. 61 56
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
Significance of Asymptomatic Hyper Creatine-Kinase Emia. 61
31743252 2019
24
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency. 61
29655994 2018
25
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing. 61
28751290 2017
26
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. 61
29095874 2017
27
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study. 61
26207760 2015
28
[Genetic confirmation of myoadenylate deaminase deficiency]. 61
25297483 2014
29
Unclassified cardiomyopathies in neuromuscular disorders. 61
24154801 2013
30
Exertional rhabdomyolysis: a clinical review with a focus on genetic influences. 61
22538307 2012
31
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency. 61
21842595 2011
32
[Genetic marker of statin-induced rhabdomyolysis]. 61
21297370 2011
33
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon. 61
20682866 2010
34
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. 61
22505968 2009
35
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. 61
19353846 2009
36
Clinical use of creatine in neuromuscular and neurometabolic disorders. 61
18652078 2007
37
Genetic risk factors associated with lipid-lowering drug-induced myopathies. 61
16671104 2006
38
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. 61
16364474 2006
39
What can metabolic myopathies teach us about exercise physiology? 61
16604138 2006
40
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. 61
16040263 2005
41
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. 61
15803807 2005
42
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise]. 61
15378456 2004
43
Myotonia congenita and myoadenylate deaminase deficiency: case report. 61
12806508 2003
44
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing. 61
12635123 2003
45
[Myoadenylate deaminase deficiency among patients with myasthenia gravis--preliminary results of exercise]. 61
15058043 2003
46
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. 61
12459698 2002
47
Differentiating idiopathic inflammatory myopathies from metabolic myopathies. 61
12506771 2002
48
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. 61
12117480 2002
49
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease. 61
11731594 2001
50
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. 61
11410643 2001
51
[Myoadenylate deaminase deficiency]. 61
11596341 2001
52
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. 61
10658174 2000
53
Cardiac involvement in primary myopathies. 61
11111138 2000
54
Adenosine inhibits depolarization-induced Ca(2+) release in mammalian skeletal muscle. 61
10567080 1999
55
Exertional myalgia syndrome associated with diminished serum ammonia elevation in ischemic exercise testing. 61
10495640 1999
56
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. 61
10211487 1999
57
The genetic basis of myoadenylate deaminase deficiency is heterogeneous. 61
9598045 1998
58
[Myoadenylate deaminase deficiency]. 61
9590098 1998
59
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome. 61
9308979 1997
60
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. 61
9211191 1997
61
Myoadenylate deaminase deficiency myopathy in pregnancy. 61
9187470 1997
62
Tension myalgia versus myoadenylate deaminase deficiency: a case report. 61
9014967 1997
63
Metabolic myopathies. 61
8795843 1996
64
Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. 61
9316703 1994
65
Use of dynamic tests of muscle function and histomorphometry of quadriceps muscle biopsies in the investigation of patients with chronic alcohol misuse and chronic fatigue syndrome. 61
7832572 1994
66
Immunolocalization of AMP-deaminase isozymes in human skeletal muscle and cultured muscle cells: concentration of isoform M at the neuromuscular junction. 61
8014469 1994
67
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. 61
8017994 1994
68
Molecular biology of AMP deaminase deficiency. 61
8032342 1994
69
Ergometer exercise in myoadenylate deaminase deficient patients. 61
8353405 1993
70
Myoadenylate deaminase deficiency with severe rhabdomyolysis. 61
8335021 1993
71
Influence on myoadenylate deaminase function in rat skeletal muscle after homologous and heterologous immunization with the purified enzyme. 61
8325721 1993
72
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. 61
8511818 1993
73
[McArdle's disease]. 61
1306014 1992
74
The oxidative pentose phosphate pathway in the heart: regulation, physiological significance, and clinical implications. 61
1384463 1992
75
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency. 61
1610923 1992
76
Ribose administration during exercise: effects on substrates and products of energy metabolism in healthy subjects and a patient with myoadenylate deaminase deficiency. 61
1904121 1991
77
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. 61
2030369 1991
78
Molecular analysis of acquired myoadenylate deaminase deficiency in polymyositis (idiopathic inflammatory myopathy). 61
1781368 1991
79
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle. 61
2253394 1990
80
Medical implications of the lactate and ammonia relationship in anaerobic exercise. 61
2361785 1990
81
Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency. 61
2514319 1989
82
Myoadenylate deaminase deficiency: fact and fancy. 61
2710150 1989
83
Rapid determination of the hypoxanthine increase in ischemic exercise tests. 61
3402066 1988
84
Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle. 61
3351687 1988
85
Biochemistry: index of the functional state of the heart? 61
3284561 1988
86
Myoadenylate deaminase deficiency. 61
3323644 1987
87
Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies. 61
3655841 1987
88
McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency. 61
3473311 1987
89
Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose. 61
3102830 1986
90
Improvement of screening in exertional myalgia with a standardized ischemic forearm test. 61
3785284 1986
91
Myoadenylate deaminase deficiency: primary and secondary types. 61
3787646 1986
92
Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine. 61
3457669 1986
93
Myoadenylate deaminase deficiency. 61
3713108 1986
94
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. 61
3957624 1986
95
Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing. 61
3766241 1986
96
Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease. 61
3464164 1986
97
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? 61
4096721 1985
98
Progressive myalgias and polyarthralgias in a patient with myoadenylate deaminase deficiency. 61
4063004 1985
99
Myoadenylate deaminase deficiency in children. 61
3916903 1985
100
Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis. 61
6721890 1984
101
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain. 61
6724999 1984
102
Myoadenylate deaminase deficiency: an enzyme defect in search of a disease. 61
6720421 1984
103
Human myoadenylate deaminase deficiency. 61
6720420 1984
104
Kinetic and immunologic evidence for a complete gene block in myoadenylate deaminase deficiency. 61
6086015 1983
105
Beneficial effect of D-ribose in patient with myoadenylate deaminase deficiency. 61
6122873 1982
106
Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain. 61
7057200 1982
107
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. 61
6167680 1981
108
Immunologic distinction of human muscle adenylate deaminase from the isoenzyme(s) in human peripheral blood cells: implications for myoadenylate deaminase deficiency. 61
6781410 1980
109
Stain for skeletal muscle adenylate deaminase. An effective tetrazolium stain for frozen biopsy specimens. 61
6158302 1980
110
Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout. 61
7411167 1980
111
Myoadenylate deaminase deficiency. 61
503106 1979

Variations for Myopathy Due to Myoadenylate Deaminase Deficiency

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

6 (showing 30, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_000001.10:g.(?_115231162)_(115238211_?)deldeletion Pathogenic 653528 1:115231162-115238211 1:114688541-114695590
3 AMPD1 NM_000036.2(AMPD1):c.294C>T (p.Ser98=)SNV Conflicting interpretations of pathogenicity 291936 rs150208948 1:115231202-115231202 1:114688581-114688581
4 AMPD1 NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile)SNV Conflicting interpretations of pathogenicity 92330 rs61752478 1:115221116-115221116 1:114678495-114678495
5 AMPD1 NM_000036.2(AMPD1):c.1323+8G>ASNV Conflicting interpretations of pathogenicity 92331 rs140176911 1:115220523-115220523 1:114677902-114677902
6 AMPD1 NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile)SNV Conflicting interpretations of pathogenicity 92338 rs34526199 1:115222237-115222237 1:114679616-114679616
7 AMPD1 NM_000036.2(AMPD1):c.1820G>A (p.Gly607Glu)SNV Conflicting interpretations of pathogenicity 286655 rs150645738 1:115217452-115217452 1:114674831-114674831
8 AMPD1 NM_000036.2(AMPD1):c.481-17dupduplication Conflicting interpretations of pathogenicity 291934 rs727503806 1:115226990-115226991 1:114684369-114684370
9 AMPD1 NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 18272 rs35859650 1:115220593-115220593 1:114677972-114677972
10 AMPD1 NM_000036.2(AMPD1):c.1373G>A (p.Arg458His)SNV Conflicting interpretations of pathogenicity 18273 rs121912682 1:115220086-115220086 1:114677465-114677465
11 AMPD1 NM_000036.2(AMPD1):c.323G>A (p.Arg108His)SNV Conflicting interpretations of pathogenicity 166684 rs61738827 1:115229523-115229523 1:114686902-114686902
12 AMPD1 NM_000036.2(AMPD1):c.1944C>T (p.Ile648=)SNV Conflicting interpretations of pathogenicity 166681 rs34257411 1:115216659-115216659 1:114674038-114674038
13 AMPD1 NM_000036.2(AMPD1):c.1563G>A (p.Glu521=)SNV Conflicting interpretations of pathogenicity 166682 rs80266556 1:115218549-115218549 1:114675928-114675928
14 AMPD1 NM_000036.2(AMPD1):c.481-6deldeletion Conflicting interpretations of pathogenicity 166683 rs727503806 1:115226991-115226991 1:114684370-114684370
15 AMPD1 NM_000036.2(AMPD1):c.567G>T (p.Gln189His)SNV Conflicting interpretations of pathogenicity 197620 rs139582106 1:115226899-115226899 1:114684278-114684278
16 AMPD1 NM_000036.2(AMPD1):c.1669T>A (p.Ser557Thr)SNV Conflicting interpretations of pathogenicity 291929 rs140181682 1:115218260-115218260 1:114675639-114675639
17 AMPD1 NM_000036.2(AMPD1):c.780T>C (p.Asp260=)SNV Uncertain significance 291931 rs201988963 1:115222966-115222966 1:114680345-114680345
18 AMPD1 NM_000036.2(AMPD1):c.1572C>T (p.Ile524=)SNV Uncertain significance 291930 rs145557954 1:115218540-115218540 1:114675919-114675919
19 AMPD1 NM_000036.2(AMPD1):c.523C>T (p.Arg175Trp)SNV Uncertain significance 291933 rs369963978 1:115226943-115226943 1:114684322-114684322
20 AMPD1 NM_000036.2(AMPD1):c.202C>T (p.Arg68Cys)SNV Uncertain significance 291937 rs139512772 1:115231294-115231294 1:114688673-114688673
21 AMPD1 NM_000036.2(AMPD1):c.1750A>T (p.Asn584Tyr)SNV Uncertain significance 291928 rs886045095 1:115218179-115218179 1:114675558-114675558
22 AMPD1 NM_000036.2(AMPD1):c.599G>A (p.Arg200Gln)SNV Uncertain significance 291932 rs368656142 1:115226867-115226867 1:114684246-114684246
23 AMPD1 NM_000036.2(AMPD1):c.322C>T (p.Arg108Cys)SNV Uncertain significance 291935 rs12566550 1:115229524-115229524 1:114686903-114686903
24 AMPD1 NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys)SNV Uncertain significance 91871 rs587779370 1:115218614-115218614 1:114675993-114675993
25 AMPD1 NM_000036.2(AMPD1):c.2281C>T (p.Arg761Cys)SNV Uncertain significance 547862 rs777802711 1:115215797-115215797 1:114673176-114673176
26 AMPD1 NM_000036.2(AMPD1):c.1157A>C (p.Tyr386Ser)SNV Uncertain significance 641932 1:115220988-115220988 1:114678367-114678367
27 AMPD1 NM_000036.2(AMPD1):c.980T>G (p.Phe327Cys)SNV Uncertain significance 639491 1:115222216-115222216 1:114679595-114679595
28 AMPD1 NM_000036.2(AMPD1):c.2246G>A (p.Arg749Gln)SNV Uncertain significance 291926 rs886045093 1:115215832-115215832 1:114673211-114673211
29 AMPD1 NM_000036.2(AMPD1):c.2025A>G (p.Leu675=)SNV Uncertain significance 291927 rs886045094 1:115216578-115216578 1:114673957-114673957
30 AMPD1 NM_000036.2(AMPD1):c.133+8T>CSNV Uncertain significance 291938 rs886045096 1:115236049-115236049 1:114693428-114693428

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

73 (showing 2, show less)
# 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 (showing 1, show less)
# 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:

(showing 6, show less)
# 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:

(showing 2, show less)
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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