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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Glycogen Storage Disease (D006008)
..Starting node ..Glycogen Storage Disease, Type IXD (C564485)
Child Nodes:
Sister Nodes:
..Glycogen Storage Disease 0, Liver (C565485)
..Glycogen Storage Disease 0, Muscle (C566917)
..Glycogen Storage Disease IC (C562805)
..GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
..Glycogen Storage Disease IXB (C563008)
..Glycogen Storage Disease IXC (C567809)
..Glycogen Storage Disease of Heart, Lethal Congenital (C564888)
..Glycogen Storage Disease Type I (D005953) 4
..Glycogen Storage Disease Type II (D006009) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type III (D006010) 4
..Glycogen Storage Disease Type IV (D006011) 7
..Glycogen Storage Disease Type Ix (C580130)
..Glycogen Storage Disease Type V (D006012)
..Glycogen Storage Disease Type VI (D006013)
..Glycogen Storage Disease Type VII (D006014)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease XII (C562718)
..Glycogen Storage Disease XIII (C567861)
..Glycogen Storage Disease XIV (C567859)
..GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Lactate dehydrogenase deficiency type A (C538133)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Polyglucosan Body Disease, Adult Form (C564878)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4724

Name:

Glycogen Storage Disease, Type IXD

Definition:

Alternative IDs:

OMIM:300559

ParentIDs:

MESH:D006008|MESH:D040181

TreeNumbers:

C16.320.322/C564485 |C16.320.565.202.449/C564485 |C18.452.648.202.449/C564485

Synonyms:

GSD9D |GSD IXD |Muscle Glycogenosis, X-Linked |Muscle Phosphorylase Kinase Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C564485
MeSH: C564485
OMIM: 300559;

Genes: PHKA1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003236	Elevated circulating creatine kinase concentration
3	HP:0003546	Exercise intolerance
4	HP:0008967	Exercise-induced muscle stiffness
5	HP:0003738	Exercise-induced myalgia
6	HP:0008305	Exercise-induced myoglobinuria
7	HP:0001324	Muscle weakness
8	HP:0003202	Skeletal muscle atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002637.3(PHKA1):c.3334G>T (p.Glu1112Ter)	5255	PHKA1	Pathogenic	137852546	RCV000010601;	N	MedGen:C1845151,OMIM:300559,ORPHA:715	X	71802412	71802412	NM_002637.3:c.3334G>T	NP_002628.2:p.Glu1112Ter	NC_000023.10:g.71802412C>A	OMIM Allelic Variant:311870.0001	C1845151 300559 Glycogen storage disease IXd
NM_002637.3(PHKA1):c.896A>T (p.Asp299Val)	5255	PHKA1	Pathogenic	137852547	RCV000010603;	N	MedGen:C1845151,OMIM:300559,ORPHA:715	X	71877460	71877460	NM_002637.3:c.896A>T	NP_002628.2:p.Asp299Val	NC_000023.10:g.71877460T>A	OMIM Allelic Variant:311870.0003	C1845151 300559 Glycogen storage disease IXd
NM_002637.3(PHKA1):c.667G>A (p.Gly223Arg)	5255	PHKA1	Pathogenic	137852548	RCV000010605;	N	MedGen:C1845151,OMIM:300559,ORPHA:715	X	71887275	71887275	NM_002637.3:c.667G>A	NP_002628.2:p.Gly223Arg	NC_000023.10:g.71887275C>T	OMIM Allelic Variant:311870.0005	C1845151 300559 Glycogen storage disease IXd