MCID: MYP071
MIFTS: 18

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 54 71 69
Adenosine Monophosphate Deaminase Deficiency Muscle Type 71
Amp Deaminase Deficiency Muscle Type 71
Myoadenylate Deaminase Deficiency 71
Muscle Amp Deaminase Deficiency 69
Ampd1 Deficiency 71
Mad Deficiency 71
Mmdd 71

Characteristics:

OMIM:

54
Miscellaneous:
some patients may be asymptomatic
variable age at onset (range infancy to late adulthood)
highly variable phenotype

Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Myopathy Due to Myoadenylate Deaminase Deficiency

OMIM : 54
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 adenosine monophosphate deaminase deficiency muscle type, is related to adenosine monophosphate deaminase 1 deficiency and glutaric acidemia iic, and has symptoms including muscle weakness, rhabdomyolysis and muscular hypotonia. 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:

id Related Disease Score Top Affiliating Genes
1 adenosine monophosphate deaminase 1 deficiency 11.3
2 glutaric acidemia iic 11.0

Symptoms & Phenotypes for Myopathy Due to Myoadenylate Deaminase Deficiency

Symptoms via clinical synopsis from OMIM:

54

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

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


Clinical features from OMIM:

615511

Human phenotypes related to Myopathy Due to Myoadenylate Deaminase Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 rhabdomyolysis 32 occasional (7.5%) HP:0003201
3 muscular hypotonia 32 occasional (7.5%) HP:0001252
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:

39
Heart, Skeletal Muscle

Publications for Myopathy Due to Myoadenylate Deaminase Deficiency

Variations for Myopathy Due to Myoadenylate Deaminase Deficiency

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 AMPD1 NM_000036.2(AMPD1): c.1261C> T (p.Arg421Trp) single nucleotide variant 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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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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