MMDD
MCID: ADN029
MIFTS: 29

Adenosine Monophosphate Deaminase 1 Deficiency (MMDD) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Adenosine Monophosphate Deaminase 1 Deficiency

Aliases & Descriptions for Adenosine Monophosphate Deaminase 1 Deficiency:

Name: Adenosine Monophosphate Deaminase 1 Deficiency 50
Adenosine Monophosphate Deaminase Deficiency 50 25 56 69
Myoadenylate Deaminase Deficiency 50 24 25 56
Amp Deaminase Deficiency 50 25 56
Myopathy Due to Myoadenylate Deaminase Deficiency 50 69
Muscle Amp Deaminase Deficiency 25 69
Exercise-Induced Myopathy 24 25
Mada Deficiency 24 25
Amp Deaminase Deficiency Muscle Type 29
Adenosine Monophosphate Deaminase 1 24
Amp Deaminase 1 Deficiency 50
Ampd1 Deficiency 50
Mad Deficiency 25
Ampd1 24
Mmdd 50

Characteristics:

Orphanet epidemiological data:

56
adenosine monophosphate deaminase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

HPO:

32
adenosine monophosphate deaminase 1 deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Orphanet 56 ORPHA45
UMLS via Orphanet 70 C0268123 C2931781
MESH via Orphanet 43 C538234
ICD10 via Orphanet 34 G71.3

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 adenosine monophosphate deaminase deficiency erythrocyte type, and has symptoms including muscle weakness, neonatal hypotonia and myopathy. 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.

NIH Rare Diseases : 50 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

Wikipedia : 71 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:

id Related Disease Score Top Affiliating Genes
1 myopathy due to myoadenylate deaminase deficiency 12.6
2 adenosine monophosphate deaminase deficiency erythrocyte type 12.5
3 erythrocyte amp deaminase deficiency 12.3
4 glutaric acidemia iic 11.0
5 colorectal adenoma 10.4
6 neuronopathy, distal hereditary motor, type vi 9.8 AMPD1 AMPD3
7 adult-onset nemaline myopathy 9.7 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:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 neonatal hypotonia 32 HP:0001319
3 myopathy 32 HP:0003198
4 muscle cramps 32 HP:0003394
5 exercise-induced muscle fatigue 32 HP:0009020
6 exercise-induced muscle cramps 32 HP:0003710

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:

id Genetic test Affiliating Genes
1 Muscle Amp Deaminase Deficiency 29
2 Myoadenylate Deaminase Deficiency 24 AMPD1

Anatomical Context for Adenosine Monophosphate Deaminase 1 Deficiency

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

39
Skeletal Muscle

Publications for Adenosine Monophosphate Deaminase 1 Deficiency

Variations for Adenosine Monophosphate Deaminase 1 Deficiency

ClinVar genetic disease variations for Adenosine Monophosphate Deaminase 1 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

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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....