MCID: ADN029
MIFTS: 29

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 53
Adenosine Monophosphate Deaminase Deficiency 53 25 59 73
Muscle Amp Deaminase Deficiency 25 29 6 73
Myoadenylate Deaminase Deficiency 53 25 59
Amp Deaminase Deficiency 53 25 59
Myopathy Due to Myoadenylate Deaminase Deficiency 53 73
Amp Deaminase 1 Deficiency 53
Exercise-Induced Myopathy 25
Ampd1 Deficiency 53
Mada Deficiency 25
Mad Deficiency 25
Mmdd 53

Characteristics:

Orphanet epidemiological data:

59
adenosine monophosphate deaminase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA45
UMLS via Orphanet 74 C0268123 C2931781
MESH via Orphanet 45 C538234
ICD10 via Orphanet 34 G71.3
SNOMED-CT via HPO 69 55300003 713514005

Summaries for Adenosine Monophosphate Deaminase 1 Deficiency

Genetics Home Reference : 25 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 are Purine metabolism (KEGG) and Purine metabolism (REACTOME). Affiliated tissues include skeletal muscle, and related phenotypes are muscle cramps and limb muscle weakness

NIH Rare Diseases : 53 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).

Wikipedia : 76 Adenosine monophosphate deaminase deficiency type 1, also called myoadenylate deaminase deficiency... more...

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 9.0 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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle cramps 59 32 hallmark (90%) Very frequent (99-80%) HP:0003394
2 limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003690
3 exercise-induced myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003738
4 exercise-induced muscle fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009020
5 myalgia 59 Very frequent (99-80%)
6 increased serum lactate 59 Excluded (0%)
7 elevated creatine kinase after exercise 59 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 29 AMPD1

Anatomical Context for Adenosine Monophosphate Deaminase 1 Deficiency

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

41
Skeletal Muscle

Publications for Adenosine Monophosphate Deaminase 1 Deficiency

Articles related to Adenosine Monophosphate Deaminase 1 Deficiency:

# Title Authors Year
1
Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity. ( 16570231 )
2006
2
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. ( 9211191 )
1997

Variations for Adenosine Monophosphate Deaminase 1 Deficiency

ClinVar genetic disease variations for Adenosine Monophosphate Deaminase 1 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 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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