MCID: ADN029
MIFTS: 32

Adenosine Monophosphate Deaminase 1 Deficiency

Categories: Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Adenosine Monophosphate Deaminase 1 Deficiency

MalaCards integrated aliases for Adenosine Monophosphate Deaminase 1 Deficiency:

Name: Adenosine Monophosphate Deaminase 1 Deficiency 49
Adenosine Monophosphate Deaminase Deficiency 49 24 55 69
Myoadenylate Deaminase Deficiency 49 24 55
Muscle Amp Deaminase Deficiency 24 28 69
Amp Deaminase Deficiency 49 24 55
Myopathy Due to Myoadenylate Deaminase Deficiency 49 69
Amp Deaminase 1 Deficiency 49
Exercise-Induced Myopathy 24
Ampd1 Deficiency 49
Mada Deficiency 24
Mad Deficiency 24
Mmdd 49

Characteristics:

Orphanet epidemiological data:

55
adenosine monophosphate deaminase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 55 ORPHA45
MESH via Orphanet 42 C538234
UMLS via Orphanet 70 C2931781 C0268123
ICD10 via Orphanet 33 G71.3
SNOMED-CT via HPO 65 55300003 713514005

Summaries for Adenosine Monophosphate Deaminase 1 Deficiency

Genetics Home Reference : 24 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.

MalaCards based summary : Adenosine Monophosphate Deaminase 1 Deficiency, also known as adenosine monophosphate deaminase deficiency, is related to myopathy due to myoadenylate deaminase deficiency and erythrocyte amp deaminase deficiency, and has symptoms including muscle cramps, limb muscle weakness and exercise-induced myalgia. An important gene associated with Adenosine Monophosphate Deaminase 1 Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1), and among its related pathways/superpathways are Pyrimidine metabolism (KEGG) and Purine metabolism. Affiliated tissues include skeletal muscle.

NIH Rare Diseases : 49 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). Last updated: 8/23/2016

Related Diseases for Adenosine Monophosphate Deaminase 1 Deficiency

Diseases related to Adenosine Monophosphate Deaminase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy due to myoadenylate deaminase deficiency 12.7
2 erythrocyte amp deaminase deficiency 12.0
3 multiple acyl-coa dehydrogenase deficiency 11.1
4 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.1
5 glycogen storage disease v 9.4 AMPD1 AMPD3

Graphical network of the top 20 diseases related to Adenosine Monophosphate Deaminase 1 Deficiency:



Diseases related to Adenosine Monophosphate Deaminase 1 Deficiency

Symptoms & Phenotypes for Adenosine Monophosphate Deaminase 1 Deficiency

Human phenotypes related to Adenosine Monophosphate Deaminase 1 Deficiency:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle cramps 55 31 hallmark (90%) Very frequent (99-80%) HP:0003394
2 limb muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003690
3 exercise-induced myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003738
4 exercise-induced muscle fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0009020
5 myalgia 55 Very frequent (99-80%)
6 increased serum lactate 55 Excluded (0%)
7 elevated creatine kinase after exercise 55 Excluded (0%)

UMLS symptoms related to Adenosine Monophosphate Deaminase 1 Deficiency:


muscle weakness

Drugs & Therapeutics for Adenosine Monophosphate Deaminase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Adenosine Monophosphate Deaminase 1 Deficiency

Genetic Tests for Adenosine Monophosphate Deaminase 1 Deficiency

Genetic tests related to Adenosine Monophosphate Deaminase 1 Deficiency:

# Genetic test Affiliating Genes
1 Muscle Amp Deaminase Deficiency 28 AMPD1

Anatomical Context for Adenosine Monophosphate Deaminase 1 Deficiency

MalaCards organs/tissues related to Adenosine Monophosphate Deaminase 1 Deficiency:

38
Skeletal Muscle

Publications for Adenosine Monophosphate Deaminase 1 Deficiency

Articles related to Adenosine Monophosphate Deaminase 1 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 Adenosine Monophosphate Deaminase 1 Deficiency

ClinVar genetic disease variations for Adenosine Monophosphate Deaminase 1 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

Expression for Adenosine Monophosphate Deaminase 1 Deficiency

Search GEO for disease gene expression data for Adenosine Monophosphate Deaminase 1 Deficiency.

Pathways for Adenosine Monophosphate Deaminase 1 Deficiency

GO Terms for Adenosine Monophosphate Deaminase 1 Deficiency

Biological processes related to Adenosine Monophosphate Deaminase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide metabolic process GO:0009117 9.26 AMPD1 AMPD3
2 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.16 AMPD1 AMPD3
3 purine-containing compound salvage GO:0043101 8.96 AMPD1 AMPD3
4 IMP salvage GO:0032264 8.62 AMPD1 AMPD3

Molecular functions related to Adenosine Monophosphate Deaminase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 deaminase activity GO:0019239 8.96 AMPD1 AMPD3
2 AMP deaminase activity GO:0003876 8.62 AMPD1 AMPD3

Sources for Adenosine Monophosphate Deaminase 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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