MCID: MYP071
MIFTS: 26

Myopathy Due to Myoadenylate Deaminase Deficiency

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


HPO:

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


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 generalized hypotonia and muscle weakness

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

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

# Related Disease Score Top Affiliating Genes
1 adenosine monophosphate deaminase 1 deficiency 11.5
2 multiple acyl-coa dehydrogenase deficiency 11.1
3 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.1

Symptoms & Phenotypes for Myopathy Due to Myoadenylate Deaminase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle pain after exercise
muscle fatigue
muscle weakness
hypotonia (in some patients)
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 generalized hypotonia 32 occasional (7.5%) HP:0001290
2 muscle weakness 32 HP:0001324
3 rhabdomyolysis 32 occasional (7.5%) HP:0003201
4 increased muscle fatiguability 32 HP:0003750

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 33)
# Title Authors Year
1
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. ( 29095874 )
2017
2
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study. ( 26207760 )
2015
3
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. ( 22505968 )
2009
4
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. ( 19353846 )
2009
5
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. ( 16040263 )
2005
6
Myotonia congenita and myoadenylate deaminase deficiency: case report. ( 12806508 )
2003
7
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects. ( 11980572 )
2002
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
Muscle function during fatigue in myoadenylate deaminase-deficient Dutch subjects. ( 10781389 )
2000
13
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
14
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. ( 10211487 )
1999
15
Genetic characteristics of myoadenylate deaminase deficiency. ( 9667605 )
1998
16
The genetic basis of myoadenylate deaminase deficiency is heterogeneous. ( 9598045 )
1998
17
Myoadenylate deaminase deficiency myopathy in pregnancy. ( 9187470 )
1997
18
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome. ( 9308979 )
1997
19
Tension myalgia versus myoadenylate deaminase deficiency: a case report. ( 9014967 )
1997
20
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. ( 8017994 )
1994
21
Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. ( 9316703 )
1994
22
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. ( 8511818 )
1993
23
Myoadenylate deaminase deficiency with severe rhabdomyolysis. ( 8335021 )
1993
24
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency. ( 1610923 )
1992
25
Molecular analysis of the myoadenylate deaminase deficiencies. ( 1370861 )
1992
26
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. ( 2030369 )
1991
27
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle. ( 2253394 )
1990
28
Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease. ( 3464164 )
1986
29
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. ( 3957624 )
1986
30
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? ( 4096721 )
1985
31
Familial myoadenylate deaminase deficiency and exertional myalgia. ( 7201581 )
1982
32
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. ( 6167680 )
1981
33
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 all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant Likely pathogenic rs35859650 GRCh37 Chromosome 1, 115220593: 115220593
2 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant Likely pathogenic rs35859650 GRCh38 Chromosome 1, 114677972: 114677972
3 AMPD1 NM_000036.2(AMPD1): c.134-7_134-4delCTTT deletion Pathogenic rs398123114 GRCh38 Chromosome 1, 114688745: 114688748
4 AMPD1 NM_000036.2(AMPD1): c.134-7_134-4delCTTT deletion Pathogenic rs398123114 GRCh37 Chromosome 1, 115231366: 115231369
5 AMPD1 NM_000036.2(AMPD1): c.959A> T (p.Lys320Ile) single nucleotide variant Pathogenic rs34526199 GRCh37 Chromosome 1, 115222237: 115222237
6 AMPD1 NM_000036.2(AMPD1): c.959A> T (p.Lys320Ile) single nucleotide variant Pathogenic rs34526199 GRCh38 Chromosome 1, 114679616: 114679616
7 AMPD1 NM_000036.2(AMPD1): c.323G> A (p.Arg108His) single nucleotide variant Conflicting interpretations of pathogenicity rs61738827 GRCh37 Chromosome 1, 115229523: 115229523
8 AMPD1 NM_000036.2(AMPD1): c.323G> A (p.Arg108His) single nucleotide variant Conflicting interpretations of pathogenicity rs61738827 GRCh38 Chromosome 1, 114686902: 114686902
9 AMPD1 NM_000036.2(AMPD1): c.1944C> T (p.Ile648=) single nucleotide variant Conflicting interpretations of pathogenicity rs34257411 GRCh37 Chromosome 1, 115216659: 115216659
10 AMPD1 NM_000036.2(AMPD1): c.1944C> T (p.Ile648=) single nucleotide variant Conflicting interpretations of pathogenicity rs34257411 GRCh38 Chromosome 1, 114674038: 114674038
11 AMPD1 NM_000036.2(AMPD1): c.1563G> A (p.Glu521=) single nucleotide variant Conflicting interpretations of pathogenicity rs80266556 GRCh37 Chromosome 1, 115218549: 115218549
12 AMPD1 NM_000036.2(AMPD1): c.1563G> A (p.Glu521=) single nucleotide variant Conflicting interpretations of pathogenicity rs80266556 GRCh38 Chromosome 1, 114675928: 114675928
13 AMPD1 NM_000036.2(AMPD1): c.481-6delT deletion Conflicting interpretations of pathogenicity rs727503806 GRCh37 Chromosome 1, 115226991: 115226991
14 AMPD1 NM_000036.2(AMPD1): c.481-6delT deletion Conflicting interpretations of pathogenicity rs727503806 GRCh38 Chromosome 1, 114684370: 114684370
15 AMPD1 NM_000036.2(AMPD1): c.567G> T (p.Gln189His) single nucleotide variant Likely pathogenic rs139582106 GRCh37 Chromosome 1, 115226899: 115226899
16 AMPD1 NM_000036.2(AMPD1): c.567G> T (p.Gln189His) single nucleotide variant Likely pathogenic rs139582106 GRCh38 Chromosome 1, 114684278: 114684278
17 AMPD1 NM_000036.2(AMPD1): c.1820G> A (p.Gly607Glu) single nucleotide variant Uncertain significance rs150645738 GRCh37 Chromosome 1, 115217452: 115217452
18 AMPD1 NM_000036.2(AMPD1): c.1820G> A (p.Gly607Glu) single nucleotide variant Uncertain significance rs150645738 GRCh38 Chromosome 1, 114674831: 114674831
19 AMPD1 NM_000036.2(AMPD1): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs886045093 GRCh38 Chromosome 1, 114673211: 114673211
20 AMPD1 NM_000036.2(AMPD1): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs886045093 GRCh37 Chromosome 1, 115215832: 115215832
21 AMPD1 NM_000036.2(AMPD1): c.2025A> G (p.Leu675=) single nucleotide variant Uncertain significance rs886045094 GRCh38 Chromosome 1, 114673957: 114673957
22 AMPD1 NM_000036.2(AMPD1): c.2025A> G (p.Leu675=) single nucleotide variant Uncertain significance rs886045094 GRCh37 Chromosome 1, 115216578: 115216578
23 AMPD1 NM_000036.2(AMPD1): c.1669T> A (p.Ser557Thr) single nucleotide variant Uncertain significance rs140181682 GRCh38 Chromosome 1, 114675639: 114675639
24 AMPD1 NM_000036.2(AMPD1): c.1669T> A (p.Ser557Thr) single nucleotide variant Uncertain significance rs140181682 GRCh37 Chromosome 1, 115218260: 115218260
25 AMPD1 NM_000036.2(AMPD1): c.780T> C (p.Asp260=) single nucleotide variant Uncertain significance rs201988963 GRCh37 Chromosome 1, 115222966: 115222966
26 AMPD1 NM_000036.2(AMPD1): c.780T> C (p.Asp260=) single nucleotide variant Uncertain significance rs201988963 GRCh38 Chromosome 1, 114680345: 114680345
27 AMPD1 NM_000036.2(AMPD1): c.1572C> T (p.Ile524=) single nucleotide variant Uncertain significance rs145557954 GRCh37 Chromosome 1, 115218540: 115218540
28 AMPD1 NM_000036.2(AMPD1): c.1572C> T (p.Ile524=) single nucleotide variant Uncertain significance rs145557954 GRCh38 Chromosome 1, 114675919: 114675919
29 AMPD1 NM_000036.2(AMPD1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs369963978 GRCh38 Chromosome 1, 114684322: 114684322
30 AMPD1 NM_000036.2(AMPD1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs369963978 GRCh37 Chromosome 1, 115226943: 115226943
31 AMPD1 NM_000036.2(AMPD1): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs139512772 GRCh37 Chromosome 1, 115231294: 115231294
32 AMPD1 NM_000036.2(AMPD1): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs139512772 GRCh38 Chromosome 1, 114688673: 114688673
33 AMPD1 NM_000036.2(AMPD1): c.1750A> T (p.Asn584Tyr) single nucleotide variant Uncertain significance rs886045095 GRCh38 Chromosome 1, 114675558: 114675558
34 AMPD1 NM_000036.2(AMPD1): c.1750A> T (p.Asn584Tyr) single nucleotide variant Uncertain significance rs886045095 GRCh37 Chromosome 1, 115218179: 115218179
35 AMPD1 NM_000036.2(AMPD1): c.599G> A (p.Arg200Gln) single nucleotide variant Uncertain significance rs368656142 GRCh37 Chromosome 1, 115226867: 115226867
36 AMPD1 NM_000036.2(AMPD1): c.599G> A (p.Arg200Gln) single nucleotide variant Uncertain significance rs368656142 GRCh38 Chromosome 1, 114684246: 114684246
37 AMPD1 NM_000036.2(AMPD1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs12566550 GRCh37 Chromosome 1, 115229524: 115229524
38 AMPD1 NM_000036.2(AMPD1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs12566550 GRCh38 Chromosome 1, 114686903: 114686903
39 AMPD1 NM_000036.2(AMPD1): c.294C> T (p.Ser98=) single nucleotide variant Uncertain significance rs150208948 GRCh37 Chromosome 1, 115231202: 115231202
40 AMPD1 NM_000036.2(AMPD1): c.294C> T (p.Ser98=) single nucleotide variant Uncertain significance rs150208948 GRCh38 Chromosome 1, 114688581: 114688581
41 AMPD1 NM_000036.2(AMPD1): c.133+8T> C single nucleotide variant Uncertain significance rs886045096 GRCh37 Chromosome 1, 115236049: 115236049
42 AMPD1 NM_000036.2(AMPD1): c.133+8T> C single nucleotide variant Uncertain significance rs886045096 GRCh38 Chromosome 1, 114693428: 114693428
43 AMPD1 NM_000036.2(AMPD1): c.481-6dupT duplication Conflicting interpretations of pathogenicity rs776245360 GRCh37 Chromosome 1, 115226991: 115226991
44 AMPD1 NM_000036.2(AMPD1): c.481-6dupT duplication Conflicting interpretations of pathogenicity rs776245360 GRCh38 Chromosome 1, 114684370: 114684370
45 AMPD1 NM_000036.2(AMPD1): c.651T> C (p.Phe217=) single nucleotide variant Benign rs35197706 GRCh38 Chromosome 1, 114680474: 114680474
46 AMPD1 NM_000036.2(AMPD1): c.651T> C (p.Phe217=) single nucleotide variant Benign rs35197706 GRCh37 Chromosome 1, 115223095: 115223095

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

Sources for Myopathy Due to Myoadenylate Deaminase Deficiency

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