MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Muscular Diseases (D009135)
..Starting node
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Myopathy with Giant Abnormal Mitochondria (C564971)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
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..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCompartment Syndromes (D003161) Child3
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..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
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..expandMesoectodermal dysplasia (C538472)
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..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
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..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
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..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..expandMYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..expandMYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
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..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
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..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7699
Name:Myopathy with Giant Abnormal Mitochondria
Definition:
Alternative IDs:
ParentIDs:MESH:D009135|MESH:D028361
TreeNumbers:C05.651/C564971 |C10.668.491/C564971 |C18.452.660/C564971
Synonyms:
Slim Mappings:Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C564971
MeSH: C564971
OMIM: 255140;
MSeqDR LSDB: 00409;  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001510Growth delay
NAMDC:  Growth delay
4 HP:0003797Limb-girdle muscle atrophy
5 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
6 HP:0003198Myopathy
NAMDC:  Myopathy
7 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
Disease Causing ClinVar Variants
MSeqDR Portal