MCID: ADN029
MIFTS: 34

Adenosine Monophosphate Deaminase 1 Deficiency

Categories: Bone diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adenosine Monophosphate Deaminase 1 Deficiency

MalaCards integrated aliases for Adenosine Monophosphate Deaminase 1 Deficiency:

Name: Adenosine Monophosphate Deaminase 1 Deficiency 54
Adenosine Monophosphate Deaminase Deficiency 54 26 60 74
Myoadenylate Deaminase Deficiency 54 26 60 13
Muscle Amp Deaminase Deficiency 26 30 6 74
Amp Deaminase Deficiency 54 26 60 38
Myopathy Due to Myoadenylate Deaminase Deficiency 54 74
Amp Deaminase 1 Deficiency 54
Exercise-Induced Myopathy 26
Ampd1 Deficiency 54
Mada Deficiency 26
Mad Deficiency 26
Mmdd 54

Characteristics:

Orphanet epidemiological data:

60
adenosine monophosphate deaminase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

KEGG 38 H02237
MESH via Orphanet 46 C538234
ICD10 via Orphanet 35 G71.3
UMLS via Orphanet 75 C0268123 C2931781
Orphanet 60 ORPHA45
SNOMED-CT via HPO 70 55300003 713514005

Summaries for Adenosine Monophosphate Deaminase 1 Deficiency

Genetics Home Reference : 26 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 weakness An important gene associated with Adenosine Monophosphate Deaminase 1 Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1), and among its related pathways/superpathways is Purine metabolism. Affiliated tissues include skeletal muscle, testes and bone, and related phenotypes are exercise-induced muscle fatigue and limb muscle weakness

NIH Rare Diseases : 54 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).

Related Diseases for Adenosine Monophosphate Deaminase 1 Deficiency

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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exercise-induced muscle fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0009020
2 limb muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003690
3 exercise-induced myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003738
4 muscle spasm 33 hallmark (90%) HP:0003394
5 increased serum lactate 60 Excluded (0%)
6 myalgia 60 Very frequent (99-80%)
7 muscle cramps 60 Very frequent (99-80%)
8 elevated creatine kinase after exercise 60 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 30 AMPD1

Anatomical Context for Adenosine Monophosphate Deaminase 1 Deficiency

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

42
Skeletal Muscle, Testes, Bone

Publications for Adenosine Monophosphate Deaminase 1 Deficiency

Articles related to Adenosine Monophosphate Deaminase 1 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
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. ( 19353846 )
2009
5
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association. ( 22505968 )
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
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. ( 12459698 )
2002
9
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. ( 12117480 )
2002
10
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. ( 11410643 )
2001
11
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
12
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. ( 10658174 )
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, hypertrophic cardiomyopathy and gigantism syndrome. ( 9308979 )
1997
17
Tension myalgia versus myoadenylate deaminase deficiency: a case report. ( 9014967 )
1997
18
Myoadenylate deaminase deficiency myopathy in pregnancy. ( 9187470 )
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
Myoadenylate deaminase deficiency with severe rhabdomyolysis. ( 8335021 )
1993
22
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. ( 8511818 )
1993
23
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency. ( 1610923 )
1992
24
Molecular analysis of acquired myoadenylate deaminase deficiency in polymyositis (idiopathic inflammatory myopathy). ( 1781368 )
1991
25
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. ( 2030369 )
1991
26
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle. ( 2253394 )
1990
27
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. ( 3957624 )
1986
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 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

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

Pathways related to Adenosine Monophosphate Deaminase 1 Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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