MCID: MLT027
MIFTS: 31

Multiple Mitochondrial Dysfunctions Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome:

Name: Multiple Mitochondrial Dysfunctions Syndrome 53 25 37 29 6 73
Fatal Multiple Mitochondrial Dysfunctions Syndrome 53
Fatal Multiple Mitochondrial Dysfunction Syndrome 53
Multiple Mitochondrial Dysfunctions Syndrome 1 73
Multiple Mitochondrial Dysfunction Syndrome 25
Mmds 25

Classifications:



External Ids:

KEGG 37 H01894

Summaries for Multiple Mitochondrial Dysfunctions Syndrome

NIH Rare Diseases : 53 Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome, also known as fatal multiple mitochondrial dysfunctions syndrome, is related to multiple mitochondrial dysfunctions syndrome 3 and multiple mitochondrial dysfunctions syndrome 4, and has symptoms including lethargy and weakness. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome is ISCA1 (Iron-Sulfur Cluster Assembly 1). The drugs insulin and Hypoglycemic Agents have been mentioned in the context of this disorder.

Genetics Home Reference : 25 Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome

Graphical network of the top 20 diseases related to Multiple Mitochondrial Dysfunctions Syndrome:



Diseases related to Multiple Mitochondrial Dysfunctions Syndrome

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome

UMLS symptoms related to Multiple Mitochondrial Dysfunctions Syndrome:


lethargy, weakness

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome

Drugs for Multiple Mitochondrial Dysfunctions Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Not Applicable
2 Hypoglycemic Agents Not Applicable
3 Insulin, Globin Zinc Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action Completed NCT01439854 Not Applicable Dapagliflozin;Placebo

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 29

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome

Publications for Multiple Mitochondrial Dysfunctions Syndrome

Articles related to Multiple Mitochondrial Dysfunctions Syndrome:

# Title Authors Year
1
Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1): Impact of a Disease-Causing Gly189Arg Substitution on NFU1. ( 28906594 )
2017
2
Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway. ( 28161430 )
2017
3
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. ( 28615676 )
2017
4
[Analysis of NFU1 gene mutation in a Chinese family affected with multiple mitochondrial dysfunction syndrome]. ( 28186588 )
2017
5
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. ( 28356563 )
2017
6
A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. ( 28615675 )
2017
7
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. ( 25477904 )
2014
8
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. ( 22562699 )
2013

Variations for Multiple Mitochondrial Dysfunctions Syndrome

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh38 Chromosome 14, 74494329: 74494329
2 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh37 Chromosome 14, 74961032: 74961032
3 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh38 Chromosome 2, 69431917: 69431917
4 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh37 Chromosome 2, 69659049: 69659049
5 BOLA3 NM_212552.2(BOLA3): c.319C> T (p.Arg107Cys) single nucleotide variant Uncertain significance rs150626228 GRCh38 Chromosome 2, 74135598: 74135598
6 BOLA3 NM_212552.2(BOLA3): c.319C> T (p.Arg107Cys) single nucleotide variant Uncertain significance rs150626228 GRCh37 Chromosome 2, 74362725: 74362725
7 NFU1 NM_001002755.2(NFU1): c.629G> T (p.Cys210Phe) single nucleotide variant Uncertain significance rs201634470 GRCh38 Chromosome 2, 69400455: 69400455
8 NFU1 NM_001002755.2(NFU1): c.629G> T (p.Cys210Phe) single nucleotide variant Uncertain significance rs201634470 GRCh37 Chromosome 2, 69627587: 69627587
9 NFU1 NM_001002755.2(NFU1): c.-48G> A single nucleotide variant Uncertain significance rs886056268 GRCh38 Chromosome 2, 69437470: 69437470
10 NFU1 NM_001002755.2(NFU1): c.-48G> A single nucleotide variant Uncertain significance rs886056268 GRCh37 Chromosome 2, 69664602: 69664602
11 NFU1 NM_001002755.2(NFU1): c.-119G> A single nucleotide variant Uncertain significance rs372505661 GRCh38 Chromosome 2, 69437541: 69437541
12 NFU1 NM_001002755.2(NFU1): c.-119G> A single nucleotide variant Uncertain significance rs372505661 GRCh37 Chromosome 2, 69664673: 69664673
13 NFU1 NM_001002755.2(NFU1): c.-147_-146delCG deletion Uncertain significance rs777119948 GRCh38 Chromosome 2, 69437568: 69437569
14 NFU1 NM_001002755.2(NFU1): c.-147_-146delCG deletion Uncertain significance rs777119948 GRCh37 Chromosome 2, 69664700: 69664701
15 NFU1 NM_001002755.2(NFU1): c.-175G> T single nucleotide variant Uncertain significance rs764708513 GRCh38 Chromosome 2, 69437597: 69437597
16 NFU1 NM_001002755.2(NFU1): c.-175G> T single nucleotide variant Uncertain significance rs764708513 GRCh37 Chromosome 2, 69664729: 69664729
17 BOLA3 NM_212552.2(BOLA3): c.256C> G (p.Gln86Glu) single nucleotide variant Uncertain significance rs149964046 GRCh37 Chromosome 2, 74369401: 74369401
18 BOLA3 NM_212552.2(BOLA3): c.256C> G (p.Gln86Glu) single nucleotide variant Uncertain significance rs149964046 GRCh38 Chromosome 2, 74142274: 74142274
19 NFU1 NM_001002755.2(NFU1): c.62+10G> A single nucleotide variant Uncertain significance rs773351968 GRCh38 Chromosome 2, 69437351: 69437351
20 NFU1 NM_001002755.2(NFU1): c.62+10G> A single nucleotide variant Uncertain significance rs773351968 GRCh37 Chromosome 2, 69664483: 69664483
21 NFU1 NM_001002755.2(NFU1): c.-1G> A single nucleotide variant Uncertain significance rs886056267 GRCh38 Chromosome 2, 69437423: 69437423
22 NFU1 NM_001002755.2(NFU1): c.-1G> A single nucleotide variant Uncertain significance rs886056267 GRCh37 Chromosome 2, 69664555: 69664555
23 NFU1 NM_001002755.2(NFU1): c.-200G> A single nucleotide variant Uncertain significance rs531177766 GRCh38 Chromosome 2, 69437622: 69437622
24 NFU1 NM_001002755.2(NFU1): c.-200G> A single nucleotide variant Uncertain significance rs531177766 GRCh37 Chromosome 2, 69664754: 69664754
25 BOLA3 NM_212552.2(BOLA3): c.*31T> C single nucleotide variant Uncertain significance rs886056326 GRCh37 Chromosome 2, 74362689: 74362689
26 BOLA3 NM_212552.2(BOLA3): c.*31T> C single nucleotide variant Uncertain significance rs886056326 GRCh38 Chromosome 2, 74135562: 74135562
27 BOLA3 NM_212552.2(BOLA3): c.-8G> A single nucleotide variant Uncertain significance rs886056327 GRCh37 Chromosome 2, 74375009: 74375009
28 BOLA3 NM_212552.2(BOLA3): c.-8G> A single nucleotide variant Uncertain significance rs886056327 GRCh38 Chromosome 2, 74147882: 74147882
29 BOLA3 NM_212552.2(BOLA3): c.-35C> T single nucleotide variant Uncertain significance rs761339384 GRCh37 Chromosome 2, 74375036: 74375036
30 BOLA3 NM_212552.2(BOLA3): c.-35C> T single nucleotide variant Uncertain significance rs761339384 GRCh38 Chromosome 2, 74147909: 74147909
31 NFU1 NM_001002755.2(NFU1): c.495A> T (p.Glu165Asp) single nucleotide variant Uncertain significance rs886056266 GRCh37 Chromosome 2, 69633204: 69633204
32 NFU1 NM_001002755.2(NFU1): c.495A> T (p.Glu165Asp) single nucleotide variant Uncertain significance rs886056266 GRCh38 Chromosome 2, 69406072: 69406072
33 NFU1 NM_001002755.2(NFU1): c.303-13dupT duplication Uncertain significance rs372898848 GRCh38 Chromosome 2, 69419617: 69419617
34 NFU1 NM_001002755.2(NFU1): c.303-13dupT duplication Uncertain significance rs372898848 GRCh37 Chromosome 2, 69646749: 69646749
35 NFU1 NM_001002755.2(NFU1): c.299C> G (p.Ala100Gly) single nucleotide variant Uncertain significance rs139171264 GRCh38 Chromosome 2, 69423585: 69423585
36 NFU1 NM_001002755.2(NFU1): c.299C> G (p.Ala100Gly) single nucleotide variant Uncertain significance rs139171264 GRCh37 Chromosome 2, 69650717: 69650717
37 NFU1 NM_001002755.2(NFU1): c.-166T> C single nucleotide variant Likely benign rs73934936 GRCh37 Chromosome 2, 69664720: 69664720
38 NFU1 NM_001002755.2(NFU1): c.-166T> C single nucleotide variant Likely benign rs73934936 GRCh38 Chromosome 2, 69437588: 69437588
39 NFU1 NM_001002755.2(NFU1): c.-197T> G single nucleotide variant Uncertain significance rs886056269 GRCh38 Chromosome 2, 69437619: 69437619
40 NFU1 NM_001002755.2(NFU1): c.-197T> G single nucleotide variant Uncertain significance rs886056269 GRCh37 Chromosome 2, 69664751: 69664751
41 BOLA3 NM_212552.2(BOLA3): c.*190G> A single nucleotide variant Uncertain significance rs886056325 GRCh37 Chromosome 2, 74362530: 74362530
42 BOLA3 NM_212552.2(BOLA3): c.*190G> A single nucleotide variant Uncertain significance rs886056325 GRCh38 Chromosome 2, 74135403: 74135403
43 BOLA3 NM_212552.2(BOLA3): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs747762311 GRCh37 Chromosome 2, 74369476: 74369476
44 BOLA3 NM_212552.2(BOLA3): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs747762311 GRCh38 Chromosome 2, 74142349: 74142349
45 BOLA3 NM_212552.2(BOLA3): c.137G> A (p.Arg46Gln) single nucleotide variant Uncertain significance rs144366005 GRCh37 Chromosome 2, 74372348: 74372348
46 BOLA3 NM_212552.2(BOLA3): c.137G> A (p.Arg46Gln) single nucleotide variant Uncertain significance rs144366005 GRCh38 Chromosome 2, 74145221: 74145221
47 NFU1 NM_001002755.2(NFU1): c.*103G> A single nucleotide variant Uncertain significance rs774104725 GRCh38 Chromosome 2, 69396143: 69396143
48 NFU1 NM_001002755.2(NFU1): c.*103G> A single nucleotide variant Uncertain significance rs774104725 GRCh37 Chromosome 2, 69623275: 69623275
49 NFU1 NM_001002755.2(NFU1): c.702G> A (p.Glu234=) single nucleotide variant Uncertain significance rs561482249 GRCh38 Chromosome 2, 69400382: 69400382
50 NFU1 NM_001002755.2(NFU1): c.702G> A (p.Glu234=) single nucleotide variant Uncertain significance rs561482249 GRCh37 Chromosome 2, 69627514: 69627514

Expression for Multiple Mitochondrial Dysfunctions Syndrome

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome

Cellular components related to Multiple Mitochondrial Dysfunctions Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.13 IBA57 ISCA1 ISCA2
2 mitochondrion GO:0005739 9.02 BOLA3 IBA57 ISCA1 ISCA2 NFU1

Biological processes related to Multiple Mitochondrial Dysfunctions Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small molecule metabolic process GO:0044281 9.16 ISCA1 ISCA2
2 protein maturation by iron-sulfur cluster transfer GO:0097428 9.13 ISCA1 ISCA2 NFU1
3 iron-sulfur cluster assembly GO:0016226 8.92 IBA57 ISCA1 ISCA2 NFU1

Molecular functions related to Multiple Mitochondrial Dysfunctions Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.26 ISCA2 NFU1
2 4 iron, 4 sulfur cluster binding GO:0051539 9.16 ISCA2 NFU1
3 2 iron, 2 sulfur cluster binding GO:0051537 8.96 ISCA1 ISCA2
4 iron-sulfur cluster binding GO:0051536 8.8 ISCA1 ISCA2 NFU1

Sources for Multiple Mitochondrial Dysfunctions Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....