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	glycogen storage disease type v

Disease ID	392
Disease	glycogen storage disease type v
Definition	Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Synonym	defic muscle phosphorylase deficiencies, muscle phosphorylase deficiencies, myophosphorylase deficiencies, pygm deficiency, muscle phosphorylase deficiency, myophosphorylase deficiency, pygm disease mcardles disease mcardles's disease, mcardle disease, mcardle's glycogen storage dis v glycogen storage disease type 5 glycogen storage disease type v [disease/finding] glycogen storage disease v glycogen storage disease, type v glycogen storage disease, type v (disorder) glycogenosis 05 glycogenosis 5 glycogenosis 5s glycogenosis type v glycogenosis, type 5 glycogenosis, type v gsd v gsd5 mcardle dis mcardle disease mcardle syndrome mcardle syndromes mcardle type glycogen storage disease mcardle's disease mcardles dis mcardles disease muscle glycogen phosphorylase deficiency muscle phosphorylase defic muscle phosphorylase deficiencies muscle phosphorylase deficiency myophosphorylase deficiencies myophosphorylase deficiency myophosphorylase deficiency glycogenosis phosphorylase deficiencies, muscle phosphorylase deficiency, muscle pygm deficiencies pygm deficiency syndrome, mcardle syndromes, mcardle type 5 glycogenosis
Orphanet	ORPHANET:368
OMIM	OMIM:232600
DOID	DOID:2746
ICD10	ICD10CM:E74.04
UMLS	C0017924
MeSH	D006012
SNOMED-CT	SNOMEDCT_US_2016_09_01:55912009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0026848 \| myopathy \| 4 C0009492 \| compartment syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1636 \| ACE \| CTD_human 5837 \| PYGM \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1636 \| ACE \| CIPHER;CTD_human 89 \| ACTN3 \| CIPHER 270 \| AMPD1 \| CIPHER 10891 \| PPARGC1A \| CIPHER 5837 \| PYGM \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 32 \| ACACB \| 3.095 \| DISEASES 270 \| AMPD1 \| 5.349 \| DISEASES 272 \| AMPD3 \| 2.986 \| DISEASES 487 \| ATP2A1 \| 2.43 \| DISEASES 766 \| CA7 \| 1.723 \| DISEASES 820 \| CAMP \| 2.352 \| DISEASES 10498 \| CARM1 \| 2.287 \| DISEASES 1376 \| CPT2 \| 3.783 \| DISEASES 2110 \| ETFDH \| 2.566 \| DISEASES 114907 \| FBXO32 \| 1.434 \| DISEASES 2593 \| GAMT \| 2.123 \| DISEASES 2628 \| GATM \| 1.841 \| DISEASES 2632 \| GBE1 \| 3.283 \| DISEASES 2641 \| GCG \| 2.281 \| DISEASES 2805 \| GOT1 \| 2.439 \| DISEASES 3908 \| LAMA2 \| 1.408 \| DISEASES 4151 \| MB \| 3.174 \| DISEASES 92399 \| MRRF \| 2.419 \| DISEASES 4512 \| MT-CO1 \| 1.391 \| DISEASES 4519 \| MT-CYB \| 1.245 \| DISEASES 4593 \| MUSK \| 1.292 \| DISEASES 4942 \| OAT \| 1.302 \| DISEASES 5213 \| PFKM \| 4.768 \| DISEASES 5236 \| PGM1 \| 1.774 \| DISEASES 5255 \| PHKA1 \| 3.345 \| DISEASES 55361 \| PI4K2A \| 1.205 \| DISEASES 57104 \| PNPLA2 \| 1.327 \| DISEASES 5493 \| PPL \| 1.759 \| DISEASES 5563 \| PRKAA2 \| 2.619 \| DISEASES 3276 \| PRMT1 \| 1.933 \| DISEASES 55170 \| PRMT6 \| 2.82 \| DISEASES 9536 \| PTGES \| 1.172 \| DISEASES 10616 \| RBCK1 \| 2.514 \| DISEASES 11030 \| RBPMS \| 2.808 \| DISEASES 6566 \| SLC16A1 \| 1.74 \| DISEASES 6517 \| SLC2A4 \| 1.369 \| DISEASES 706 \| TSPO \| 1.136 \| DISEASES 23038 \| WDTC1 \| 3.044 \| DISEASES
Locus	(Waiting for update.)

Disease ID	392
Disease	glycogen storage disease type v
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0003710 \| Muscle cramps following exercise HP:0003738 \| Muscle pain on exercise HP:0003236 \| Elevated creatine kinase HP:0003201 \| Rhabdomyolysis HP:0001324 \| Muscular weakness HP:0002913 \| Myoglobinuria
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0003198 \| Myopathic changes \| 4 HP:0003394 \| Muscle cramps \| 1 HP:0012531 \| Pain \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001919 \| Acute renal failure \| 1

Disease ID	392
Disease	glycogen storage disease type v
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0026848 \| myopathy \| 3

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:33)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs116135678	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64754024	G	A
rs116315896	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64757794	C	T
rs116987552	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64759751	G	A
rs119103251	11706962	5837	PYGM	umls:C0017924	UNIPROT	Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.	0.596853589	2001	PYGM	11	64757826	C	T
rs119103251	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64757826	C	T
rs119103252	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64752064	T	G
rs119103253	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751331	C	T
rs119103254	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64753931	A	G
rs119103255	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751966	G	A
rs119103256	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64750557	G	C
rs119103257	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64752071	C	A
rs119103258	10681080	5837	PYGM	umls:C0017924	BeFree	A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.	0.596853589	2000	PYGM;RASGRP2	11	64746796	A	T,G
rs119103258	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM;RASGRP2	11	64746796	A	T,G
rs119103259	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751597	C	T
rs119103260	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751970	A	G,C
rs144081869	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64750497	C	T
rs1805086	19232494	2660	MSTN	umls:C0017924	BeFree	Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?	0.000271442	2009	MSTN;C2orf88	2	190060351	T	C
rs1805086	19232494	89	ACTN3	umls:C0017924	BeFree	We compared clinical presentation and exercise capacity between (i) four women with McArdle disease (aged 17, 36, 42 and 70 years) who were also carriers of the K153R variant in the myostatin (GDF-8) gene and in (ii) four women with this disorder matched forage (16, 33, 40 and 69 years), lifestyle, and documented genotype modulators of this disease (ACE, AMPD1 and ACTN3), who did not carry the myostatin variant.	0.005362824	2009	MSTN;C2orf88	2	190060351	T	C
rs1805086	19232494	1636	ACE	umls:C0017924	BeFree	We compared clinical presentation and exercise capacity between (i) four women with McArdle disease (aged 17, 36, 42 and 70 years) who were also carriers of the K153R variant in the myostatin (GDF-8) gene and in (ii) four women with this disorder matched forage (16, 33, 40 and 69 years), lifestyle, and documented genotype modulators of this disease (ACE, AMPD1 and ACTN3), who did not carry the myostatin variant.	0.133364122	2009	MSTN;C2orf88	2	190060351	T	C
rs1805086	19232494	270	AMPD1	umls:C0017924	BeFree	We compared clinical presentation and exercise capacity between (i) four women with McArdle disease (aged 17, 36, 42 and 70 years) who were also carriers of the K153R variant in the myostatin (GDF-8) gene and in (ii) four women with this disorder matched forage (16, 33, 40 and 69 years), lifestyle, and documented genotype modulators of this disease (ACE, AMPD1 and ACTN3), who did not carry the myostatin variant.	0.005276948	2009	MSTN;C2orf88	2	190060351	T	C
rs267606993	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64759898	T	G,C
rs397514631	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64759747	T	C
rs398124208	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64753556	C	T
rs398124209	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64753125	G	C
rs398124210	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM;RASGRP2	11	64747274	T	-
rs527236146	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64758693	G	T
rs527236147	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64750423	GAA	-
rs755117847	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64759820	CA	-
rs767739769	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64755320	G	A
rs769960481	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751627	A	-
rs771427957	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751923	C	T
rs786200874	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64751967	T	-
rs786204723	NA	5837	PYGM	umls:C0017924	CLINVAR	NA	0.596853589	NA	PYGM	11	64758454	C	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001324	Muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
HP:0003710	Exercise-induced muscle cramps	MP:0014071	increased cardiac muscle glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle
HP:0003236	Elevated serum creatine phosphokinase	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003236	Elevated serum creatine phosphokinase	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002913	Myoglobinuria	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0003201	Rhabdomyolysis	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0003738	Exercise-induced myalgia	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0003710	Exercise-induced muscle cramps	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0001324	Muscle weakness	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).

Disease ID	392
Disease	glycogen storage disease type v
Case	(Waiting for update.)