Myoadenylate Deaminase Deficiency malady

Genetics Home Reference: Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood.¹⁷

MalaCards: Myoadenylate Deaminase Deficiency, also known as adenosine monophosphate deaminase 1 deficiency, is related to adenosine monophosphate deaminase deficiency and myopathy. An important gene associated with Myoadenylate Deaminase Deficiency is AMPD1 (adenosine monophosphate deaminase 1), and among its related pathways are Purine metabolism and ATP/ITP metabolism. The compounds ampd and Inosinic Acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and t cells.

Wikipedia: Adenosine monophosphate deaminase deficiency type 1 is also called myoadenylate deaminase deficiency. It...⁴⁴ more...

myoadenylate deaminase deficiency 7 16 33 adenosine monophosphate deaminase 1 deficiency 16 adenosine monophosphate deaminase deficiency 43 muscle amp deaminase deficiency 43 exercise-induced myopathy 16

mada deficiency 43 myopathy 43 ampd1 16 mada 16

Diseases related to myoadenylate deaminase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 347)

id	Related Disease	Score	Top Affiliating Genes
1	adenosine monophosphate deaminase deficiency	31.4	AMPD1, AMPD3
2	myopathy	28.7	CKM, AMPD1, AMPD3
3	hepatocellular carcinoma	28.7	CKM, AMPD1, AMPD3
4	ischemia	28.1	CKM, AMPD1, AMPD3
5	neuromuscular disease	27.2	AMPD1, CKM
6	glycogen storage disease	25.8	CKM, AMPD1
7	congenital heart defect	23.9	AMPD3, AMPD1, CKM
8	ischemic heart disease	12.3	AMPD1, AMPD3
9	rhabdomyolysis, cerivastatin-induced	12.2	CKM, AMPD1
10	bilirubin metabolic disorder	12.2	AMPD1, AMPD3
11	dmd-associated dilated cardiomyopathy	12.0	CKM, AMPD1
12	nemaline myopathy	10.2
13	inclusion body myopathy	9.8
14	centronuclear myopathy	9.6
15	myofibrillar myopathy	9.1
16	inclusion body myopathy 2	9.1
17	bethlem myopathy	8.9
18	miyoshi myopathy	8.7
19	cardiomyopathy	8.7
20	muscular dystrophy	8.4
21	adenosine monophosphate deaminase 1 deficiency	8.4
22	laing distal myopathy	8.2
23	vacuolar myopathy	8.2
24	dementia	7.9
25	carcinoma	7.9
26	inclusion body myopathy with early-onset paget disease and frontotemporal dementia	7.9
27	myopathy congenital	7.9
28	distal myopathy with vocal cord weakness	7.8
29	frontotemporal dementia	7.8
30	hereditary myopathy with early respiratory failure	7.6
31	myositis	7.6
32	x-linked centronuclear myopathy	7.6
33	inclusion body myositis	7.5
34	limb-girdle muscular dystrophy	7.5
35	myopathy with deficiency of iron-sulfur cluster assembly enzyme	7.5
36	neutral lipid storage disease with myopathy	7.5
37	paget's disease of bone	7.5
38	malaria	7.5
39	actin-accumulation myopathy	7.4
40	multiminicore disease	7.4
41	myopathy with deficiency of iscu	7.4
42	rod myopathy	7.4
43	salih myopathy	7.4
44	congestive heart failure	7.4
45	x-linked dominant scapuloperoneal myopathy	7.3
46	congenital fiber-type disproportion	7.3
47	central core myopathy	7.3
48	inclusion body myopathy with paget disease of bone and/or frontotemporal dementia	7.3
49	lactic acidosis	7.3
50	mitochondrial encephalomyopathy	7.3

Approved drugs:

Drug clinical trials:

Genetic tests related to myoadenylate deaminase deficiency:

id	Genetic test	Affiliating Genes
1	Myoadenylate Deaminase Deficiency clinical/research	AMPD1

MalaCards organs/tissues related to myoadenylate deaminase deficiency:

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Articles related to myoadenylate deaminase deficiency:

(show all 18)

id	Title	Authors	Year	Affiliating Genes
1	Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. (19353846)	Teijeira S.... Navarro C.	2009	AMPD1
2	Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. (16040263)	Isackson P.J.... Vladutiu G.D.	2005	AMPD1
3	A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. (12117480)	Gross M.... Sabina R.L.	2002	AMPD1
4	Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects. (11980572)	De Ruiter C.J.... de Haan A.	2002	AMPD1
5	Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. (11410643)	Tarnopolsky M.A.... Rush J.W.	2001	AMPD1
6	Muscle function during fatigue in myoadenylate deaminase-deficient Dutch subjects. (10781389)	De Ruiter C.J.... de Haan A.	2000	AMPD1
7	Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. (10996775)	Abe M.... Osame M.	2000	AMPD1, AMPD3
8	Genetic characteristics of myoadenylate deaminase deficiency. (9667605)	Verzijl H.T.... Wevers R.A.	1998	AMPD1
9	New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. (8017994)	Gross M.	1994	AMPD1
10	Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency. (8511818)	Poels P.J.... GabreAls F.J.	1993	AMPD1
11	Myoadenylate deaminase deficiency with severe rhabdomyolysis. (8335021)	Baumeister F.A.... Eife R.	1993	AMPD1
12	Molecular analysis of the myoadenylate deaminase deficiencies. (1370861)	Sabina R.L.... Holmes E.W.	1992	CKM, AMPD1
13	Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency. (1610923)	Jacobs A.E.... Veerkamp J.H.	1992	AMPD1
14	Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. (2030369)	Zimmer C.... Gosztonyi G.	1991	AMPD1
15	Myoadenylate deaminase deficiency studies on normal a nd deaminase-deficient skeletal muscle. (2253394)	Kaletha K.... Nowak G.	1990	AMPD3
16	Familial myoadenylate deaminase deficiency and exertional myalgia. (7201581)	Kelemen J.... Hogan E.L.	1982	AMPD1
17	Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. (6167680)	Mercelis R.... Van den Berghe G.	1981	AMPD1
18	Myoadenylate deaminase deficiency: a new disease of muscle. (644316)	Fishbein W.N.... Griffin J.L.	1978	AMPD1

Genes related to myoadenylate deaminase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	AMPD1	adenosine monophosphate deaminase 1	11.0	Publications
2	CKM	creatine kinase, muscle	11.0	Publications
3	AMPD3	adenosine monophosphate deaminase 3	11.0	Publications

Pathways related to myoadenylate deaminase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Purine metabolism38	9.4	AMPD1, AMPD3
2	ATP/ITP metabolism41	9.3	AMPD1, AMPD3
3	Purine metabolism20	9.3	AMPD3, AMPD1
4	ATP/ITP metabolism10	9.2	AMPD3, AMPD1
5	Metabolic pathways20	8.2	AMPD3, AMPD1, CKM

Compounds related to myoadenylate deaminase deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ampd32	9.6	AMPD3, AMPD1
2	Inosinic Acid9 18 9	11.5	AMPD3, AMPD1
3	inosine monophosphate32	9.5	AMPD1, AMPD3
4	propranolol32 34 9 18 9	13.4	AMPD1, AMPD3
5	Adenosine monophosphate9 18 9	11.3	AMPD1, AMPD3
6	lactate32	8.7	AMPD1, CKM, AMPD3
7	adenylate32	8.6	AMPD1, CKM, AMPD3
8	oxygen32 18	9.5	AMPD3, AMPD1, CKM
9	atp32	8.4	AMPD1, AMPD3, CKM
10	glucose32	8.2	CKM, AMPD3, AMPD1

Cellular components related to myoadenylate deaminase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	8.5	CKM, AMPD1, AMPD3

Biological processes related to myoadenylate deaminase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	IMP salvage	GO:032264	9.4	AMPD1, AMPD3
2	purine-containing compound salvage	GO:043101	9.3	AMPD3, AMPD1
3	purine nucleobase metabolic process	GO:006144	9.2	AMPD1, AMPD3
4	nucleobase-containing small molecule metabolic process	GO:055086	9.0	AMPD1, AMPD3
5	small molecule metabolic process	GO:044281	8.5	CKM, AMPD1, AMPD3

Molecular functions related to myoadenylate deaminase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	AMP deaminase activity	GO:003876	9.3	AMPD1, AMPD3