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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Kidney Diseases (D007674)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Dimauro disease (C536176)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3381

Name:

Dimauro disease

Definition:

Alternative IDs:

OMIM:261670

ParentIDs:

MESH:D007674|MESH:D009135

TreeNumbers:

C05.651/C536176 |C10.668.491/C536176 |C12.777.419/C536176 |C13.351.968.419/C536176

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536176
MeSH: C536176
OMIM: 261670;

Genes: PGAM2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003236	Elevated circulating creatine kinase concentration
3	HP:0003546	Exercise intolerance
4	HP:0003710	Exercise-induced muscle cramps
5	HP:0003738	Exercise-induced myalgia
6	HP:0002913	Myoglobinuria
7	HP:0003198	Myopathy
8	HP:0000083	Renal insufficiency
9	HP:0003201	Rhabdomyolysis

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_000290.3(PGAM2):c.290G>A (p.Gly97Asp)	5224	PGAM2	Pathogenic	77938727	RCV000000449;	N	MedGen:C0268149,OMIM:261670,SNOMED CT:37666005	7	44104839	44104839	NM_000290.3:c.290G>A	NP_000281.2:p.Gly97Asp	NC_000007.13:g.44104839C>T	OMIM Allelic Variant:612931.0004	C0268149 261670 Glycogen storage disease type X
NM_000290.3(PGAM2):c.268C>T (p.Arg90Trp)	5224	PGAM2	Pathogenic	104894034	RCV000000448;	N	MedGen:C0268149,OMIM:261670,SNOMED CT:37666005	7	44104861	44104861	NM_000290.3:c.268C>T	NP_000281.2:p.Arg90Trp	NC_000007.13:g.44104861G>A	OMIM Allelic Variant:612931.0003	C0268149 261670 Glycogen storage disease type X
NM_000290.3(PGAM2):c.266A>C (p.Glu89Ala)	5224	PGAM2	Pathogenic	104894030	RCV000000447;	N	MedGen:C0268149,OMIM:261670,SNOMED CT:37666005	7	44104863	44104863	NM_000290.3:c.266A>C	NP_000281.2:p.Glu89Ala	NC_000007.13:g.44104863T>G	OMIM Allelic Variant:612931.0002	C0268149 261670 Glycogen storage disease type X
NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter)	5224	PGAM2	Pathogenic	10250779	RCV000000446;	N	MedGen:C0268149,OMIM:261670,SNOMED CT:37666005	7	44104896	44104896	NM_000290.3:c.233G>A	NP_000281.2:p.Trp78Ter	NC_000007.13:g.44104896C>T	OMIM Allelic Variant:612931.0001	C0268149 261670 Glycogen storage disease type X