MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Lipid Metabolism, Inborn Errors (D008052)
Parent Node:
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Muscular Dystrophies (D009136)
..Starting node
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Myopathy with Abnormal Lipid Metabolism (C562935)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-B Crystallinopathy with Cataract (C563849)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandBassoe syndrome (C537661)
..expandBethlem myopathy (C535436)
..expandDistal Myopathies (D049310) Child11
..expandFilaminopathy, autosomal dominant (C537932)
..expandGlycogen Storage Disease Type VII (D006014)
..expandMuscular Dystrophies, Limb-Girdle (D049288) Child33
..expandMuscular dystrophy congenital, merosin negative (C537384)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandMuscular Dystrophy, Barnes Type (C563558)
..expandMuscular Dystrophy, Cardiac Type (C563247)
..expandMuscular Dystrophy, Congenital, 1B (C565748)
..expandMuscular Dystrophy, Congenital, 1C (C564691)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandMuscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..expandMuscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMuscular Dystrophy, Congenital, Lmna-Related (C567708)
..expandMuscular Dystrophy, Congenital, Megaconial Type (C566527)  LSDB  L: 00415;
..expandMuscular Dystrophy, Congenital, Merosin-Positive (C563716)
..expandMuscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandMuscular Dystrophy, Congenital, Type 1D (C563844)
..expandMuscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..expandMuscular Dystrophy, Congenital, with Rapid Progression (C564983)
..expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Facioscapulohumeral (D020391) Child4
..expandMuscular Dystrophy, Mabry Type (C564096)
..expandMuscular Dystrophy, Oculopharyngeal (D039141) Child1
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMuscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandMyopathy, Myofibrillar, Desmin-Related (C563319)
..expandMyopathy, Myofibrillar, Zasp-Related (C563718)
..expandMYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..expandMyotonic Dystrophy (D009223) Child1
..expandOculopharyngodistal Myopathy (C563508)
..expandRigid spine syndrome (C535683)
..expandScleroatonic muscular dystrophy (C537521)
..expandVacuolar Neuromyopathy (C566617)
..expandWalker-Warburg Syndrome (D058494) Child7
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8502
Name:Myopathy with Abnormal Lipid Metabolism
Definition:
Alternative IDs:OMIM:255100
ParentIDs:MESH:D008052|MESH:D009136
TreeNumbers:C05.651.534.500/C562935 |C10.668.491.175.500/C562935 |C16.320.565.398/C562935 |C16.320.577/C562935 |C18.452.584.562/C562935 |C18.452.648.398/C562935
Synonyms:Lipid Storage Myopathy |LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY |LSMFLAD
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C562935
MeSH: C562935
OMIM: 255100;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001638CardiomyopathyHP:0040283
3 HP:0002015Dysphagia
NAMDC:  Dysphagia
4 HP:0003236Elevated serum creatine phosphokinaseHP:0040283
5 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
6 HP:0012548Fatty replacement of skeletal muscle
7 HP:0011968Feeding difficulties
8 HP:0001290Generalized hypotonia
9 HP:0003198Myopathy
NAMDC:  Myopathy
10 HP:0001992Organic aciduria
11 HP:0003812Phenotypic variability
12 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
13 HP:0002093Respiratory insufficiency
14 HP:0002650ScoliosisHP:0040283
15 HP:0004755Supraventricular tachycardiaHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs)80308FLAD1Pathogenicrs876661313RCV000223949|RCV000234837; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154960605154960608CTTCTC1:g.154960605_154960608delClinGen:CA10575991,OMIM:610595.0001
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)80308FLAD1Pathogenicrs876661312RCV000223945|RCV000234836; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154960734154960745GCAGGGGGCATCCA1:g.154960735_154960745delClinGen:CA10575993,OMIM:610595.0006
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)80308FLAD1Pathogenicrs876661310RCV000223944|RCV000234839; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154960775154960776GGGC1:g.154960775_154960776insGCClinGen:CA10575994,OMIM:610595.0004
NM_025207.5(FLAD1):c.836del (p.Phe279fs)80308FLAD1Pathogenicrs876661311RCV000223939|RCV000234842; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154961043154961043GTG1:g.154961043_154961043delClinGen:CA10575995,OMIM:610595.0005C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)80308FLAD1Pathogenicrs876661309RCV000223940|RCV000234840; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154962932154962934ACTCA1:g.154962932_154962934delClinGen:CA10575996,OMIM:610595.0002
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)80308FLAD1Pathogenicrs771466122RCV000223948|RCV000234835|RCV000521126; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MedGen:CN5172021154965222154965222CT1:g.154965222C>TClinGen:CA1134629,UniProtKB:Q8NFF5#VAR_077070,OMIM:610595.0003C0268596 231680 Glutaric aciduria, type 2;
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