MMDS
MCID: MLT027
MIFTS: 31

Multiple Mitochondrial Dysfunctions Syndrome (MMDS)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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. Affiliated tissues include eye and lung.

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

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome:

41
Eye, Lung

Publications for Multiple Mitochondrial Dysfunctions Syndrome

Articles related to Multiple Mitochondrial Dysfunctions Syndrome:

# Title Authors Year
1
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1. ( 30105122 )
2018
2
Understanding the Molecular Basis for Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1): Impact of a Disease-Causing Gly189Arg Substitution on NFU1. ( 28906594 )
2017
3
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
4
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. ( 28615676 )
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
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 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFU1 NM_001002755.2(NFU1): c.286C> T (p.Arg96Cys) single nucleotide variant Benign/Likely benign rs74637005 GRCh37 Chromosome 2, 69650730: 69650730
2 NFU1 NM_001002755.2(NFU1): c.286C> T (p.Arg96Cys) single nucleotide variant Benign/Likely benign rs74637005 GRCh38 Chromosome 2, 69423598: 69423598
3 NFU1 NM_001002755.2(NFU1): c.411T> C (p.Ile137=) single nucleotide variant Benign/Likely benign rs12474866 GRCh37 Chromosome 2, 69642390: 69642390
4 NFU1 NM_001002755.2(NFU1): c.411T> C (p.Ile137=) single nucleotide variant Benign/Likely benign rs12474866 GRCh38 Chromosome 2, 69415258: 69415258
5 NFU1 NM_001002755.2(NFU1): c.74T> A (p.Met25Lys) single nucleotide variant Benign rs4453725 GRCh37 Chromosome 2, 69659126: 69659126
6 NFU1 NM_001002755.2(NFU1): c.74T> A (p.Met25Lys) single nucleotide variant Benign rs4453725 GRCh38 Chromosome 2, 69431994: 69431994
7 NFU1 NM_001002755.2(NFU1): c.62+9C> T single nucleotide variant Benign/Likely benign rs114846829 GRCh37 Chromosome 2, 69664484: 69664484
8 NFU1 NM_001002755.2(NFU1): c.62+9C> T single nucleotide variant Benign/Likely benign rs114846829 GRCh38 Chromosome 2, 69437352: 69437352
9 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh38 Chromosome 14, 74494329: 74494329
10 ISCA2 NM_194279.3(ISCA2): c.229G> A (p.Gly77Ser) single nucleotide variant Pathogenic/Likely pathogenic rs730882246 GRCh37 Chromosome 14, 74961032: 74961032
11 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh38 Chromosome 2, 69431917: 69431917
12 NFU1 NM_001002755.2(NFU1): c.151G> T (p.Ala51Ser) single nucleotide variant Benign/Likely benign rs76646410 GRCh37 Chromosome 2, 69659049: 69659049
13 BOLA3 NM_212552.2(BOLA3): c.319C> T (p.Arg107Cys) single nucleotide variant Uncertain significance rs150626228 GRCh38 Chromosome 2, 74135598: 74135598
14 BOLA3 NM_212552.2(BOLA3): c.319C> T (p.Arg107Cys) single nucleotide variant Uncertain significance rs150626228 GRCh37 Chromosome 2, 74362725: 74362725
15 NFU1 NM_001002755.2(NFU1): c.629G> T (p.Cys210Phe) single nucleotide variant Uncertain significance rs201634470 GRCh38 Chromosome 2, 69400455: 69400455
16 NFU1 NM_001002755.2(NFU1): c.629G> T (p.Cys210Phe) single nucleotide variant Uncertain significance rs201634470 GRCh37 Chromosome 2, 69627587: 69627587
17 NFU1 NM_001002755.2(NFU1): c.-48G> A single nucleotide variant Uncertain significance rs886056268 GRCh38 Chromosome 2, 69437470: 69437470
18 NFU1 NM_001002755.2(NFU1): c.-48G> A single nucleotide variant Uncertain significance rs886056268 GRCh37 Chromosome 2, 69664602: 69664602
19 NFU1 NM_001002755.2(NFU1): c.-119G> A single nucleotide variant Uncertain significance rs372505661 GRCh38 Chromosome 2, 69437541: 69437541
20 NFU1 NM_001002755.2(NFU1): c.-119G> A single nucleotide variant Uncertain significance rs372505661 GRCh37 Chromosome 2, 69664673: 69664673
21 NFU1 NM_001002755.2(NFU1): c.-147_-146delCG deletion Uncertain significance rs777119948 GRCh38 Chromosome 2, 69437568: 69437569
22 NFU1 NM_001002755.2(NFU1): c.-147_-146delCG deletion Uncertain significance rs777119948 GRCh37 Chromosome 2, 69664700: 69664701
23 NFU1 NM_001002755.2(NFU1): c.-175G> T single nucleotide variant Uncertain significance rs764708513 GRCh38 Chromosome 2, 69437597: 69437597
24 NFU1 NM_001002755.2(NFU1): c.-175G> T single nucleotide variant Uncertain significance rs764708513 GRCh37 Chromosome 2, 69664729: 69664729
25 BOLA3 NM_212552.2(BOLA3): c.256C> G (p.Gln86Glu) single nucleotide variant Uncertain significance rs149964046 GRCh37 Chromosome 2, 74369401: 74369401
26 BOLA3 NM_212552.2(BOLA3): c.256C> G (p.Gln86Glu) single nucleotide variant Uncertain significance rs149964046 GRCh38 Chromosome 2, 74142274: 74142274
27 NFU1 NM_001002755.2(NFU1): c.62+10G> A single nucleotide variant Uncertain significance rs773351968 GRCh38 Chromosome 2, 69437351: 69437351
28 NFU1 NM_001002755.2(NFU1): c.62+10G> A single nucleotide variant Uncertain significance rs773351968 GRCh37 Chromosome 2, 69664483: 69664483
29 NFU1 NM_001002755.2(NFU1): c.-1G> A single nucleotide variant Uncertain significance rs886056267 GRCh38 Chromosome 2, 69437423: 69437423
30 NFU1 NM_001002755.2(NFU1): c.-1G> A single nucleotide variant Uncertain significance rs886056267 GRCh37 Chromosome 2, 69664555: 69664555
31 NFU1 NM_001002755.2(NFU1): c.-200G> A single nucleotide variant Uncertain significance rs531177766 GRCh38 Chromosome 2, 69437622: 69437622
32 NFU1 NM_001002755.2(NFU1): c.-200G> A single nucleotide variant Uncertain significance rs531177766 GRCh37 Chromosome 2, 69664754: 69664754
33 BOLA3 NM_212552.2(BOLA3): c.*31T> C single nucleotide variant Uncertain significance rs886056326 GRCh37 Chromosome 2, 74362689: 74362689
34 BOLA3 NM_212552.2(BOLA3): c.*31T> C single nucleotide variant Uncertain significance rs886056326 GRCh38 Chromosome 2, 74135562: 74135562
35 BOLA3 NM_212552.2(BOLA3): c.-8G> A single nucleotide variant Uncertain significance rs886056327 GRCh37 Chromosome 2, 74375009: 74375009
36 BOLA3 NM_212552.2(BOLA3): c.-8G> A single nucleotide variant Uncertain significance rs886056327 GRCh38 Chromosome 2, 74147882: 74147882
37 BOLA3 NM_212552.2(BOLA3): c.-35C> T single nucleotide variant Uncertain significance rs761339384 GRCh37 Chromosome 2, 74375036: 74375036
38 BOLA3 NM_212552.2(BOLA3): c.-35C> T single nucleotide variant Uncertain significance rs761339384 GRCh38 Chromosome 2, 74147909: 74147909
39 NFU1 NM_001002755.2(NFU1): c.495A> T (p.Glu165Asp) single nucleotide variant Uncertain significance rs886056266 GRCh38 Chromosome 2, 69406072: 69406072
40 NFU1 NM_001002755.2(NFU1): c.495A> T (p.Glu165Asp) single nucleotide variant Uncertain significance rs886056266 GRCh37 Chromosome 2, 69633204: 69633204
41 NFU1 NM_001002755.2(NFU1): c.303-13dupT duplication Uncertain significance rs372898848 GRCh38 Chromosome 2, 69419617: 69419617
42 NFU1 NM_001002755.2(NFU1): c.303-13dupT duplication Uncertain significance rs372898848 GRCh37 Chromosome 2, 69646749: 69646749
43 NFU1 NM_001002755.2(NFU1): c.299C> G (p.Ala100Gly) single nucleotide variant Uncertain significance rs139171264 GRCh38 Chromosome 2, 69423585: 69423585
44 NFU1 NM_001002755.2(NFU1): c.299C> G (p.Ala100Gly) single nucleotide variant Uncertain significance rs139171264 GRCh37 Chromosome 2, 69650717: 69650717
45 NFU1 NM_001002755.2(NFU1): c.-166T> C single nucleotide variant Likely benign rs73934936 GRCh38 Chromosome 2, 69437588: 69437588
46 NFU1 NM_001002755.2(NFU1): c.-166T> C single nucleotide variant Likely benign rs73934936 GRCh37 Chromosome 2, 69664720: 69664720
47 NFU1 NM_001002755.2(NFU1): c.-197T> G single nucleotide variant Uncertain significance rs886056269 GRCh38 Chromosome 2, 69437619: 69437619
48 NFU1 NM_001002755.2(NFU1): c.-197T> G single nucleotide variant Uncertain significance rs886056269 GRCh37 Chromosome 2, 69664751: 69664751
49 BOLA3 NM_212552.2(BOLA3): c.*190G> A single nucleotide variant Uncertain significance rs886056325 GRCh37 Chromosome 2, 74362530: 74362530
50 BOLA3 NM_212552.2(BOLA3): c.*190G> A single nucleotide variant Uncertain significance rs886056325 GRCh38 Chromosome 2, 74135403: 74135403

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 9.26 IBA57 ISCA1 ISCA2 PMPCB
2 mitochondrion GO:0005739 9.1 BOLA3 IBA57 ISCA1 ISCA2 NFU1 PMPCB

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....