MMDD
MCID: MYP071
MIFTS: 28

Myopathy Due to Myoadenylate Deaminase Deficiency (MMDD)

Categories: Genetic 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 57 75 73
Ampd1 Deficiency 57 75
Mmdd 57 75
Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due to 57
Adenosine Monophosphate Deaminase Deficiency Muscle Type 75
Myoadenylate Deaminase Deficiency, Myopathy Due to 57
Myopathy, Due to Myoadenylate Deaminase Deficiency 40
Amp Deaminase Deficiency Muscle Type 75
Myoadenylate Deaminase Deficiency 75
Muscle Amp Deaminase Deficiency 73
Mad Deficiency 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
myopathy due to myoadenylate deaminase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615511
MeSH 44 D008661

Summaries for Myopathy Due to Myoadenylate Deaminase Deficiency

OMIM : 57 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 ampd1 deficiency, is related to adenosine monophosphate deaminase 1 deficiency and multiple acyl-coa dehydrogenase deficiency, and has symptoms including muscle weakness An important gene associated with Myopathy Due to Myoadenylate Deaminase Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1). Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are muscle weakness and generalized hypotonia

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Myopathy Due to Myoadenylate Deaminase Deficiency

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

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
hypotonia (in some patients)
muscle fatigue
muscle pain after exercise
rhabdomyolysis (in some patients)

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


Clinical features from OMIM:

615511

Human phenotypes related to Myopathy Due to Myoadenylate Deaminase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 generalized hypotonia 32 occasional (7.5%) HP:0001290
3 increased muscle fatiguability 32 HP:0003750
4 rhabdomyolysis 32 occasional (7.5%) HP:0003201

UMLS symptoms related to Myopathy Due to Myoadenylate Deaminase Deficiency:


muscle weakness

Drugs & Therapeutics for Myopathy Due to Myoadenylate Deaminase Deficiency

Search Clinical Trials , NIH Clinical Center for Myopathy Due to Myoadenylate Deaminase Deficiency

Genetic Tests for Myopathy Due to Myoadenylate Deaminase Deficiency

Anatomical Context for Myopathy Due to Myoadenylate Deaminase Deficiency

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

41
Heart, Skeletal Muscle, Testes

Publications for Myopathy Due to Myoadenylate Deaminase Deficiency

Articles related to Myopathy Due to Myoadenylate Deaminase Deficiency:

(show all 32)
# Title Authors Year
1
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency. ( 29655994 )
2018
2
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. ( 29095874 )
2017
3
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study. ( 26207760 )
2015
4
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. ( 22505968 )
2009
5
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. ( 19353846 )
2009
6
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. ( 16040263 )
2005
7
Myotonia congenita and myoadenylate deaminase deficiency: case report. ( 12806508 )
2003
8
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. ( 12117480 )
2002
9
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. ( 12459698 )
2002
10
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. ( 11410643 )
2001
11
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. ( 10658174 )
2000
12
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. ( 10996775 )
2000
13
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. ( 10211487 )
1999
14
Genetic characteristics of myoadenylate deaminase deficiency. ( 9667605 )
1998
15
The genetic basis of myoadenylate deaminase deficiency is heterogeneous. ( 9598045 )
1998
16
Myoadenylate deaminase deficiency myopathy in pregnancy. ( 9187470 )
1997
17
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome. ( 9308979 )
1997
18
Tension myalgia versus myoadenylate deaminase deficiency: a case report. ( 9014967 )
1997
19
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. ( 8017994 )
1994
20
Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. ( 9316703 )
1994
21
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. ( 8511818 )
1993
22
Myoadenylate deaminase deficiency with severe rhabdomyolysis. ( 8335021 )
1993
23
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency. ( 1610923 )
1992
24
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. ( 2030369 )
1991
25
Molecular analysis of acquired myoadenylate deaminase deficiency in polymyositis (idiopathic inflammatory myopathy). ( 1781368 )
1991
26
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle. ( 2253394 )
1990
27
Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease. ( 3464164 )
1986
28
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. ( 3957624 )
1986
29
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? ( 4096721 )
1985
30
Familial myoadenylate deaminase deficiency and exertional myalgia. ( 7201581 )
1982
31
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. ( 6167680 )
1981
32
Myoadenylate deaminase deficiency: a new disease of muscle. ( 644316 )
1978

Variations for Myopathy Due to Myoadenylate Deaminase Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 AMPD1 p.Arg421Trp VAR_013271 rs35859650
2 AMPD1 p.Arg458His VAR_013272 rs121912682

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

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD1 NM_000036.2(AMPD1): c.133C> T (p.Gln45Ter) single nucleotide variant Uncertain significance rs17602729 GRCh37 Chromosome 1, 115236057: 115236057
2 AMPD1 NM_000036.2(AMPD1): c.133C> T (p.Gln45Ter) single nucleotide variant Uncertain significance rs17602729 GRCh38 Chromosome 1, 114693436: 114693436
3 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant Likely pathogenic rs35859650 GRCh37 Chromosome 1, 115220593: 115220593
4 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant Likely pathogenic rs35859650 GRCh38 Chromosome 1, 114677972: 114677972
5 AMPD1 NM_000036.2(AMPD1): c.1373G> A (p.Arg458His) single nucleotide variant Conflicting interpretations of pathogenicity rs121912682 GRCh37 Chromosome 1, 115220086: 115220086
6 AMPD1 NM_000036.2(AMPD1): c.1373G> A (p.Arg458His) single nucleotide variant Conflicting interpretations of pathogenicity rs121912682 GRCh38 Chromosome 1, 114677465: 114677465
7 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh37 Chromosome 1, 115218614: 115218614
8 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh38 Chromosome 1, 114675993: 114675993
9 AMPD1 NM_000036.2(AMPD1): c.1029G> T (p.Met343Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61752478 GRCh37 Chromosome 1, 115221116: 115221116
10 AMPD1 NM_000036.2(AMPD1): c.1029G> T (p.Met343Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61752478 GRCh38 Chromosome 1, 114678495: 114678495
11 AMPD1 NM_000036.2(AMPD1): c.1323+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs140176911 GRCh37 Chromosome 1, 115220523: 115220523
12 AMPD1 NM_000036.2(AMPD1): c.1323+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs140176911 GRCh38 Chromosome 1, 114677902: 114677902
13 AMPD1 NM_000036.2(AMPD1): c.134-7_134-4delCTTT deletion Pathogenic rs398123114 GRCh37 Chromosome 1, 115231366: 115231369
14 AMPD1 NM_000036.2(AMPD1): c.134-7_134-4delCTTT deletion Pathogenic rs398123114 GRCh38 Chromosome 1, 114688745: 114688748
15 AMPD1 NM_000036.2(AMPD1): c.314+10G> A single nucleotide variant Benign rs6683173 GRCh37 Chromosome 1, 115231172: 115231172
16 AMPD1 NM_000036.2(AMPD1): c.314+10G> A single nucleotide variant Benign rs6683173 GRCh38 Chromosome 1, 114688551: 114688551
17 AMPD1 NM_000036.2(AMPD1): c.959A> T (p.Lys320Ile) single nucleotide variant Pathogenic rs34526199 GRCh37 Chromosome 1, 115222237: 115222237
18 AMPD1 NM_000036.2(AMPD1): c.959A> T (p.Lys320Ile) single nucleotide variant Pathogenic rs34526199 GRCh38 Chromosome 1, 114679616: 114679616
19 AMPD1 NM_000036.2(AMPD1): c.323G> A (p.Arg108His) single nucleotide variant Conflicting interpretations of pathogenicity rs61738827 GRCh37 Chromosome 1, 115229523: 115229523
20 AMPD1 NM_000036.2(AMPD1): c.323G> A (p.Arg108His) single nucleotide variant Conflicting interpretations of pathogenicity rs61738827 GRCh38 Chromosome 1, 114686902: 114686902
21 AMPD1 NM_000036.2(AMPD1): c.1944C> T (p.Ile648=) single nucleotide variant Conflicting interpretations of pathogenicity rs34257411 GRCh37 Chromosome 1, 115216659: 115216659
22 AMPD1 NM_000036.2(AMPD1): c.1944C> T (p.Ile648=) single nucleotide variant Conflicting interpretations of pathogenicity rs34257411 GRCh38 Chromosome 1, 114674038: 114674038
23 AMPD1 NM_000036.2(AMPD1): c.1563G> A (p.Glu521=) single nucleotide variant Conflicting interpretations of pathogenicity rs80266556 GRCh37 Chromosome 1, 115218549: 115218549
24 AMPD1 NM_000036.2(AMPD1): c.1563G> A (p.Glu521=) single nucleotide variant Conflicting interpretations of pathogenicity rs80266556 GRCh38 Chromosome 1, 114675928: 114675928
25 AMPD1 NM_000036.2(AMPD1): c.481-6delT deletion Conflicting interpretations of pathogenicity rs727503806 GRCh37 Chromosome 1, 115226991: 115226991
26 AMPD1 NM_000036.2(AMPD1): c.481-6delT deletion Conflicting interpretations of pathogenicity rs727503806 GRCh38 Chromosome 1, 114684370: 114684370
27 AMPD1 NM_000036.2(AMPD1): c.567G> T (p.Gln189His) single nucleotide variant Likely pathogenic rs139582106 GRCh37 Chromosome 1, 115226899: 115226899
28 AMPD1 NM_000036.2(AMPD1): c.567G> T (p.Gln189His) single nucleotide variant Likely pathogenic rs139582106 GRCh38 Chromosome 1, 114684278: 114684278
29 AMPD1 NM_000036.2(AMPD1): c.1820G> A (p.Gly607Glu) single nucleotide variant Uncertain significance rs150645738 GRCh37 Chromosome 1, 115217452: 115217452
30 AMPD1 NM_000036.2(AMPD1): c.1820G> A (p.Gly607Glu) single nucleotide variant Uncertain significance rs150645738 GRCh38 Chromosome 1, 114674831: 114674831
31 AMPD1 NM_000036.2(AMPD1): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs886045093 GRCh38 Chromosome 1, 114673211: 114673211
32 AMPD1 NM_000036.2(AMPD1): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs886045093 GRCh37 Chromosome 1, 115215832: 115215832
33 AMPD1 NM_000036.2(AMPD1): c.2025A> G (p.Leu675=) single nucleotide variant Uncertain significance rs886045094 GRCh38 Chromosome 1, 114673957: 114673957
34 AMPD1 NM_000036.2(AMPD1): c.2025A> G (p.Leu675=) single nucleotide variant Uncertain significance rs886045094 GRCh37 Chromosome 1, 115216578: 115216578
35 AMPD1 NM_000036.2(AMPD1): c.1669T> A (p.Ser557Thr) single nucleotide variant Uncertain significance rs140181682 GRCh38 Chromosome 1, 114675639: 114675639
36 AMPD1 NM_000036.2(AMPD1): c.1669T> A (p.Ser557Thr) single nucleotide variant Uncertain significance rs140181682 GRCh37 Chromosome 1, 115218260: 115218260
37 AMPD1 NM_000036.2(AMPD1): c.780T> C (p.Asp260=) single nucleotide variant Uncertain significance rs201988963 GRCh37 Chromosome 1, 115222966: 115222966
38 AMPD1 NM_000036.2(AMPD1): c.780T> C (p.Asp260=) single nucleotide variant Uncertain significance rs201988963 GRCh38 Chromosome 1, 114680345: 114680345
39 AMPD1 NM_000036.2(AMPD1): c.1572C> T (p.Ile524=) single nucleotide variant Uncertain significance rs145557954 GRCh38 Chromosome 1, 114675919: 114675919
40 AMPD1 NM_000036.2(AMPD1): c.1572C> T (p.Ile524=) single nucleotide variant Uncertain significance rs145557954 GRCh37 Chromosome 1, 115218540: 115218540
41 AMPD1 NM_000036.2(AMPD1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs369963978 GRCh37 Chromosome 1, 115226943: 115226943
42 AMPD1 NM_000036.2(AMPD1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs369963978 GRCh38 Chromosome 1, 114684322: 114684322
43 AMPD1 NM_000036.2(AMPD1): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs139512772 GRCh37 Chromosome 1, 115231294: 115231294
44 AMPD1 NM_000036.2(AMPD1): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs139512772 GRCh38 Chromosome 1, 114688673: 114688673
45 AMPD1 NM_000036.2(AMPD1): c.1750A> T (p.Asn584Tyr) single nucleotide variant Uncertain significance rs886045095 GRCh38 Chromosome 1, 114675558: 114675558
46 AMPD1 NM_000036.2(AMPD1): c.1750A> T (p.Asn584Tyr) single nucleotide variant Uncertain significance rs886045095 GRCh37 Chromosome 1, 115218179: 115218179
47 AMPD1 NM_000036.2(AMPD1): c.599G> A (p.Arg200Gln) single nucleotide variant Uncertain significance rs368656142 GRCh37 Chromosome 1, 115226867: 115226867
48 AMPD1 NM_000036.2(AMPD1): c.599G> A (p.Arg200Gln) single nucleotide variant Uncertain significance rs368656142 GRCh38 Chromosome 1, 114684246: 114684246
49 AMPD1 NM_000036.2(AMPD1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs12566550 GRCh37 Chromosome 1, 115229524: 115229524
50 AMPD1 NM_000036.2(AMPD1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs12566550 GRCh38 Chromosome 1, 114686903: 114686903

Expression for Myopathy Due to Myoadenylate Deaminase Deficiency

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Pathways for Myopathy Due to Myoadenylate Deaminase Deficiency

GO Terms for Myopathy Due to Myoadenylate Deaminase Deficiency

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