About: adenosine monophosphate deaminase deficiency

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About: adenosine monophosphate deaminase deficiency Goto Sponge NotDistinct Permalink

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medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	adenosine monophosphate deaminase deficiency
description	medical condition (en) медичний стан (uk)
exact match	wds:Q1956662-63DCCEF4-652A-4F8D-B919-98FE553678FB
exact match	http://www.orpha.net/ORDO/Orphanet_45
Mondo ID	wds:Q1956662-7FAE6FBA-73B9-4266-9865-F226C1C894F3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013028
Mondo ID	MONDO_0013028
rdfs:label	Myoadenylatdesaminase-Mangel (de) adenosine monophosphate deaminase deficiency (en) déficit en adénosine monophosphate désaminase (fr) 肌腺苷酸脫胺酶缺乏症 (zh)
skos:prefLabel	Myoadenylatdesaminase-Mangel (de) adenosine monophosphate deaminase deficiency (en) déficit en adénosine monophosphate désaminase (fr) 肌腺苷酸脫胺酶缺乏症 (zh)
name	Myoadenylatdesaminase-Mangel (de) adenosine monophosphate deaminase deficiency (en) déficit en adénosine monophosphate désaminase (fr) 肌腺苷酸脫胺酶缺乏症 (zh)
instance of	wds:Q1956662-08875D61-3CE4-4962-97C0-99B8ED0FC387 wds:Q1956662-3FCF997D-0583-4320-A0AD-8A17FD4F995F
instance of	class of disease rare disease
subclass of	wds:Q1956662-3acdd0d1-4702-44c2-eae6-8676c5fbb801
subclass of	inherited metabolic disorder
KEGG ID	wds:Q1956662-15BCB102-D262-459D-9F87-85FD05818038
KEGG ID	http://www.kegg.jp/entry/H02237
KEGG ID	H02237
UniProt disease ID	wds:Q1956662-e3722612-422b-40ce-0468-ef9fcf31d2ef
Orphanet ID	wds:Q1956662-7af0df9a-49f1-6cc8-370f-8e39ce8e3d3b
ICD-9-CM	wds:Q1956662-688CB4B7-0ACC-4CA3-9EEE-4B4DD3C3798B
genetic association	wds:Q1956662-36CFF28F-65FB-4FFE-8BB5-83B60A1D4C06
ICD-10-CM	wds:Q1956662-00291DA1-D95B-41DC-B047-AFD18446630B
OMIM ID	wds:q1956662-339246B5-FA3E-40A6-8DE8-FCB7FBA7E020
UniProt disease ID	DI-00038
Orphanet ID	45
ICD-9-CM	277.2
genetic association	AMPD1
ICD-10-CM	G71.3
OMIM ID	612874
Commons category	wds:Q1956662-2a1553c4-4f2b-8f56-7029-0b58157313ae
Commons category	Adenosine monophosphate deaminase deficiency type 1
skos:altLabel	AMP deaminase deficiency (en) ERYTHROCYTE AMP DEAMINASE DEFICIENCY (en) MAD-Mangel (de) Myoadenylatdeaminase-Mangel (de) Myoadenylate deaminase deficiency (en)
UMLS CUI	wds:Q1956662-3A753EA0-3D6E-4532-A2B7-0C5AE5A0424E wds:Q1956662-5BD42DF8-7A98-4E65-85F0-538CA1DF2DF7 wds:Q1956662-6F81FBD4-2E64-45FA-97AE-F603B09E72F8
MeSH descriptor ID	wds:Q1956662-8ed733bd-44f5-bf82-8f8a-2c87896bbe0c
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538234
UMLS CUI	C0268123 C2752073 C2931781
MeSH descriptor ID	C538234
WikiProjectMed ID	wds:Q1956662-E1953906-F182-4003-9FEA-AF3C1E8B2319
WikiProjectMed ID	Adenosine monophosphate deaminase deficiency type 1
is about of	adenosine monophosphate deaminase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q1956662 Adenosine monophosphate deaminase deficiency type 1 https://de.wikipedia.org/wiki/Myoadenylatdesaminase-Mangel Category:Adenosine monophosphate deaminase deficiency type 1
is of of	wds:Q60609943-6f1dd0f0-44b1-ffe7-9449-4e63d76c0e23
is subclass of of	myopathy due to myoadenylate deaminase deficiency
is subclass of of	wds:Q56003296-cdc424da-43b2-2804-81b5-b20b46bf8123
is main subject of	Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy) Myoadenylate deaminase deficiency: inherited and acquired forms. Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency Failure of D-ribose in myoadenylate deaminase deficiency Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations A point mutation responsible for human erythrocyte AMP deaminase deficiency A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects Myoadenylate Deaminase Deficiency: A New Disease of Muscle Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient Myoadenylate deaminase deficiency with severe rhabdomyolysis Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families Muscle AMP deaminase deficiency in 2% of a healthy population Genetic characteristics of myoadenylate deaminase deficiency Primary, secondary, and coincidental types of myoadenylate deaminase deficiency Molecular basis of AMP deaminase deficiency in skeletal muscle Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study Myoadenylate deaminase deficiency and forearm ischemic exercise testing Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci Familial myoadenylate deaminase deficiency and exertional myalgia Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain

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