LSMFLAD
MCID: LPD042
MIFTS: 22

Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (LSMFLAD)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Respiratory diseases
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Aliases & Classifications for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

MalaCards integrated aliases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

Name: Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 57 73 5
Lsmflad 57 73
Myopathy, Lipid Storage, Due to Flavin Adenine Dinucleotide Synthetase Deficiency 38
Lipid Storage Myopathy Due to Flad1 Deficiency 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
highly variable phenotype
some patients present in infancy with a severe disorder that may result in early death
some patients have adult-onset of myopathy
some patients may respond well to riboflavin supplementation


Classifications:



Summaries for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

OMIM®: 57 Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). (255100) (Updated 24-Oct-2022)

MalaCards based summary: Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency, is also known as lsmflad. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and cardiomyopathy

UniProtKB/Swiss-Prot: 73 An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.

Related Diseases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Symptoms & Phenotypes for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Human phenotypes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Occasional (7.5%) HP:0002650
2 cardiomyopathy 30 Occasional (7.5%) HP:0001638
3 supraventricular tachycardia 30 Occasional (7.5%) HP:0004755
4 elevated circulating creatine kinase concentration 30 Occasional (7.5%) HP:0003236
5 dysphagia 30 HP:0002015
6 respiratory insufficiency 30 HP:0002093
7 myopathy 30 HP:0003198
8 feeding difficulties 30 HP:0011968
9 organic aciduria 30 HP:0001992
10 generalized hypotonia 30 HP:0001290
11 proximal muscle weakness 30 HP:0003701
12 exercise intolerance 30 HP:0003546
13 fatty replacement of skeletal muscle 30 HP:0012548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia
lipid storage myopathy
proximal limb muscle weakness
more
Abdomen Gastrointestinal:
feeding difficulties
swallowing difficulties

Skeletal Spine:
scoliosis (in some patients)

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
organic aciduria
increased serum creatine kinase (in some patients)
increased plasma acylcarnitine species
increased urinary ethylmalonic acid
increased urinary adipic acid

Cardiovascular Heart:
cardiomyopathy (in some patients)
supraventricular tachycardia (in some patients)

Clinical features from OMIM®:

255100 (Updated 24-Oct-2022)

Drugs & Therapeutics for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Search Clinical Trials, NIH Clinical Center for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency

Genetic Tests for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Anatomical Context for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Organs/tissues related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

MalaCards : Skeletal Muscle

Publications for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Articles related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

# Title Authors PMID Year
1
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 57 5
27259049 2016
2
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 57 5
25058219 2014
3
Lipid storage myopathy: successful treatment with propranolol. 57
6788163 1981
4
Myopathy associated with abnormal lipid metabolism in skeletal muscle. 57
4179573 1969

Variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

ClinVar genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLAD1 NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) SNV Pathogenic
224729 rs771466122 GRCh37: 1:154965222-154965222
GRCh38: 1:154992746-154992746
2 FLAD1 NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) INDEL Pathogenic
224731 rs876661312 GRCh37: 1:154960734-154960745
GRCh38: 1:154988258-154988269
3 FLAD1 NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) MICROSAT Pathogenic
224732 rs876661313 GRCh37: 1:154960605-154960608
GRCh38: 1:154988129-154988132
4 FLAD1 NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) DUP Pathogenic
224728 rs876661310 GRCh37: 1:154960775-154960776
GRCh38: 1:154988299-154988300
5 FLAD1 NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) DEL Pathogenic
224727 rs876661309 GRCh37: 1:154962932-154962934
GRCh38: 1:154990456-154990458
6 FLAD1 NM_025207.5(FLAD1):c.836del (p.Phe279fs) DEL Pathogenic
224730 rs876661311 GRCh37: 1:154961043-154961043
GRCh38: 1:154988567-154988567
7 FLAD1 NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter) SNV Pathogenic
373037 rs1057518160 GRCh37: 1:154960616-154960616
GRCh38: 1:154988140-154988140
8 FLAD1 NM_025207.5(FLAD1):c.797del (p.Glu266fs) DEL Pathogenic
1184538 GRCh37: 1:154961005-154961005
GRCh38: 1:154988529-154988529
9 FLAD1 NM_025207.5(FLAD1):c.1356dup (p.Ile453fs) DUP Likely Pathogenic
1324407 GRCh37: 1:154962724-154962725
GRCh38: 1:154990248-154990249
10 FLAD1 NM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser) SNV Uncertain Significance
1299478 rs143499209 GRCh37: 1:154965244-154965244
GRCh38: 1:154992768-154992768

UniProtKB/Swiss-Prot genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 FLAD1 p.Arg530Cys VAR_077070 rs771466122

Expression for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Search GEO for disease gene expression data for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency.

Pathways for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

GO Terms for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Sources for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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