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 53 71 69
Ampd1 Deficiency 53 71
Mmdd 53 71
Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due to 53
Adenosine Monophosphate Deaminase Deficiency Muscle Type 71
Myoadenylate Deaminase Deficiency, Myopathy Due to 53
Amp Deaminase Deficiency Muscle Type 71
Myoadenylate Deaminase Deficiency 71
Muscle Amp Deaminase Deficiency 69
Mad Deficiency 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
myopathy due to myoadenylate deaminase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 53 615511
MeSH 41 D008661

Summaries for Myopathy Due to Myoadenylate Deaminase Deficiency

OMIM : 53 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 generalized hypotonia, muscle weakness and rhabdomyolysis. An important gene associated with Myopathy Due to Myoadenylate Deaminase Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1). Affiliated tissues include heart and skeletal muscle.

UniProtKB/Swiss-Prot : 71 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 31 occasional (7.5%) HP:0001290
2 muscle weakness 31 HP:0001324
3 rhabdomyolysis 31 occasional (7.5%) HP:0003201
4 increased muscle fatiguability 31 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:

38
Heart, Skeletal Muscle

Publications for Myopathy Due to Myoadenylate Deaminase Deficiency

Articles related to Myopathy Due to Myoadenylate Deaminase Deficiency:

(show all 32)
# 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
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. ( 19353846 )
2009
4
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. ( 22505968 )
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
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. ( 12459698 )
2002
8
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. ( 12117480 )
2002
9
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects. ( 11980572 )
2002
10
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. ( 11410643 )
2001
11
Muscle function during fatigue in myoadenylate deaminase-deficient Dutch subjects. ( 10781389 )
2000
12
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. ( 10658174 )
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, hypertrophic cardiomyopathy and gigantism syndrome. ( 9308979 )
1997
18
Tension myalgia versus myoadenylate deaminase deficiency: a case report. ( 9014967 )
1997
19
Myoadenylate deaminase deficiency myopathy in pregnancy. ( 9187470 )
1997
20
Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. ( 9316703 )
1994
21
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. ( 8017994 )
1994
22
Myoadenylate deaminase deficiency with severe rhabdomyolysis. ( 8335021 )
1993
23
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. ( 8511818 )
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
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant Pathogenic/Likely pathogenic rs35859650 GRCh37 Chromosome 1, 115220593: 115220593
2 AMPD1 NM_000036.2(AMPD1): c.134-7_134-4delCTTT deletion Pathogenic rs398123114 GRCh37 Chromosome 1, 115231366: 115231369
3 AMPD1 NM_000036.2(AMPD1): c.959A> T (p.Lys320Ile) single nucleotide variant Pathogenic rs34526199 GRCh37 Chromosome 1, 115222237: 115222237
4 AMPD1 NM_000036.2(AMPD1): c.567G> T (p.Gln189His) single nucleotide variant Likely pathogenic rs139582106 GRCh37 Chromosome 1, 115226899: 115226899

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

GO Terms for Myopathy Due to Myoadenylate Deaminase Deficiency

Sources for Myopathy Due to Myoadenylate Deaminase Deficiency

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