MMDS3
MCID: MLT119
MIFTS: 41

Multiple Mitochondrial Dysfunctions Syndrome 3 (MMDS3)

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 57 12 72 29 6 15 70
Mmds3 57 58 72
Iba57 Deficiency 12 58
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3 39
Multiple Mitochondrial Dysfunctions Syndrome Type 3 58

Characteristics:

Orphanet epidemiological data:

58
multiple mitochondrial dysfunctions syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
highly variable severity
onset in utero
some patients may have normal early development and then show regression in the first months of life
death may occur in infancy or early childhood


HPO:

31
multiple mitochondrial dysfunctions syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

OMIM® : 57 MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). (615330) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 3, also known as mmds3, is related to anemia, sideroblastic, and spinocerebellar ataxia and lipoic acid biosynthesis defects. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57). Affiliated tissues include cerebellum, spinal cord and medulla oblongata, and related phenotypes are seizure and nystagmus

Disease Ontology : 12 A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has material basis in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : 72 Multiple mitochondrial dysfunctions syndrome 3: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 3
Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5
Multiple Mitochondrial Dysfunctions Syndrome 6 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, and spinocerebellar ataxia 9.9 NFU1 ISCA2 ISCA1
2 lipoic acid biosynthesis defects 9.8 NFU1 LIAS BOLA3
3 cardiomyopathy, infantile histiocytoid 9.7 NDUFS8 NDUFS7
4 pyruvate dehydrogenase e1-alpha deficiency 9.7 NFU1 LIAS IBA57 BOLA3
5 leigh syndrome with leukodystrophy 9.6 NDUFS8 NDUFS7
6 anemia, sideroblastic, 1 9.5 ISCA2 ISCA1 IBA57 ACO2
7 mitochondrial metabolism disease 9.5 NFU1 NDUFS8 NDUFS7 BOLA3
8 multiple mitochondrial dysfunctions syndrome 4 9.4 NFU1 LIAS ISCA2 ISCA1 IBA57 BOLA3
9 multiple mitochondrial dysfunctions syndrome 1 9.4 NFU1 LIAS IBA57 FDX2 BOLA3
10 lactic acidosis 9.4 NFU1 LIAS ISCA2 ISCA1 IBA57 BOLA3
11 combined oxidative phosphorylation deficiency 19 9.4 NUBPL ISCA2 IBA57 FDX2 BOLA3
12 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 9.2 NUBPL NFU1 LIAS ISCA2 ISCA1 IBA57
13 mitochondrial complex i deficiency, nuclear type 1 9.1 NUBPL NDUFS8 NDUFS7 ACO2
14 leukodystrophy 9.0 NUBPL NFU1 NDUFS8 NDUFS7 ISCA2 ISCA1
15 multiple mitochondrial dysfunctions syndrome 8.8 NUBPL NFU1 LIAS ISCA2 ISCA1 IBA57
16 glycine encephalopathy 8.8 NUBPL NFU1 LIAS ISCA2 ISCA1 IBA57

Graphical network of the top 20 diseases related to Multiple Mitochondrial Dysfunctions Syndrome 3:



Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 3

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 3

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 nystagmus 31 HP:0000639
3 high palate 31 HP:0000218
4 developmental regression 31 HP:0002376
5 microcephaly 31 HP:0000252
6 visual impairment 31 HP:0000505
7 optic atrophy 31 HP:0000648
8 cognitive impairment 31 HP:0100543
9 spastic tetraplegia 31 HP:0002510
10 intrauterine growth retardation 31 HP:0001511
11 wide intermamillary distance 31 HP:0006610
12 retrognathia 31 HP:0000278
13 irritability 31 HP:0000737
14 polyhydramnios 31 HP:0001561
15 arthrogryposis multiplex congenita 31 HP:0002804
16 polymicrogyria 31 HP:0002126
17 severe muscular hypotonia 31 HP:0006829
18 respiratory failure 31 HP:0002878
19 hypoplasia of the corpus callosum 31 HP:0002079
20 encephalopathy 31 HP:0001298
21 leukodystrophy 31 HP:0002415
22 lactic acidosis 31 HP:0003128
23 feeding difficulties 31 HP:0011968
24 metabolic acidosis 31 HP:0001942
25 cerebral atrophy 31 HP:0002059
26 edema 31 HP:0000969
27 recurrent fever 31 HP:0001954
28 abnormality of mitochondrial metabolism 31 HP:0003287

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
loss of visual fixation

Neurologic Central Nervous System:
developmental regression
spastic tetraplegia
irritability
hypoplasia of the corpus callosum
encephalopathy
more
Head And Neck Face:
retrognathia

Metabolic Features:
lactic acidosis
metabolic acidosis
regression may accompany episodic fever

Chest Breasts:
widely spaced nipples

Growth Other:
intrauterine growth retardation (iugr)

Laboratory Abnormalities:
increased serum and csf lactate
increased serum and csf glycine

Respiratory:
respiratory insufficiency
respiratory failure

Head And Neck Head:
microcephaly

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
hypotonia, severe
defects in mitochondria respiratory activities, mainly complexes i, ii, and iv
defects in lipoate-containing mitochondrial enzyme complexes

Skeletal:
arthrogryposis (uncommon)

Clinical features from OMIM®:

615330 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 ISCA1 ISCA2 NDUFS7 NDUFS8

MGI Mouse Phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.1 FDX2 ISCA1 LIAS NDUFS7 NDUFS8 NUBPL

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

Search Clinical Trials , NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 3:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 3 29 IBA57

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 3:

40
Cerebellum, Spinal Cord, Medulla Oblongata

Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 3:

# Title Authors PMID Year
1
Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. 57 6
28671726 2018
2
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. 6 57
28913435 2017
3
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. 6 57
27785568 2017
4
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. 57 6
25971455 2015
5
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 57 6
23462291 2013
6
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 61
29767723 2018

Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IBA57 NM_001010867.4(IBA57):c.941A>C (p.Gln314Pro) SNV Pathogenic 56829 rs587777016 GRCh37: 1:228363084-228363084
GRCh38: 1:228175383-228175383
2 IBA57 NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) SNV Pathogenic 545645 rs73095427 GRCh37: 1:228362487-228362487
GRCh38: 1:228174786-228174786
3 IBA57 NM_001010867.4(IBA57):c.586T>G (p.Trp196Gly) SNV Pathogenic 545646 rs1553264669 GRCh37: 1:228362637-228362637
GRCh38: 1:228174936-228174936
4 IBA57 NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu) SNV Pathogenic 545647 rs1553264725 GRCh37: 1:228362829-228362829
GRCh38: 1:228175128-228175128
5 IBA57 NM_001010867.4(IBA57):c.706C>T (p.Pro236Ser) SNV Pathogenic 545648 rs769063859 GRCh37: 1:228362849-228362849
GRCh38: 1:228175148-228175148
6 IBA57 NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) SNV Pathogenic 545649 rs765926471 GRCh37: 1:228353803-228353803
GRCh38: 1:228166102-228166102
7 IBA57 NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter) SNV Pathogenic 545651 rs1261081427 GRCh37: 1:228362840-228362840
GRCh38: 1:228175139-228175139
8 IBA57 NM_001010867.4(IBA57):c.940C>T (p.Gln314Ter) SNV Pathogenic 545653 rs1553264773 GRCh37: 1:228363083-228363083
GRCh38: 1:228175382-228175382
9 IBA57 NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter) SNV Pathogenic 545654 rs765132163 GRCh37: 1:228353667-228353667
GRCh38: 1:228165966-228165966
10 IBA57 NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) Duplication Pathogenic 660906 rs1571918251 GRCh37: 1:228362434-228362435
GRCh38: 1:228174733-228174734
11 IBA57 NM_001010867.4(IBA57):c.589_590del (p.Arg197fs) Deletion Pathogenic 972915 GRCh37: 1:228362639-228362640
GRCh38: 1:228174938-228174939
12 IBA57 NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) SNV Pathogenic 545650 rs1053773776 GRCh37: 1:228353833-228353833
GRCh38: 1:228166132-228166132
13 IBA57 NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) SNV Likely pathogenic 545652 rs781627051 GRCh37: 1:228353840-228353840
GRCh38: 1:228166139-228166139
14 IBA57 NM_001010867.4(IBA57):c.167G>A (p.Arg56His) SNV Likely pathogenic 433545 rs1035428169 GRCh37: 1:228353684-228353684
GRCh38: 1:228165983-228165983
15 IBA57 NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) SNV Likely pathogenic 522951 rs1298056442 GRCh37: 1:228353830-228353830
GRCh38: 1:228166129-228166129
16 IBA57 NM_001010867.4(IBA57):c.341+1G>A SNV Likely pathogenic 948465 GRCh37: 1:228353859-228353859
GRCh38: 1:228166158-228166158
17 IBA57 NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) SNV Uncertain significance 541311 rs775646159 GRCh37: 1:228353852-228353852
GRCh38: 1:228166151-228166151
18 IBA57 NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) SNV Uncertain significance 541312 rs778284446 GRCh37: 1:228353723-228353723
GRCh38: 1:228166022-228166022
19 IBA57 NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) SNV Uncertain significance 662694 rs951070079 GRCh37: 1:228353602-228353602
GRCh38: 1:228165901-228165901
20 IBA57 NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) SNV Uncertain significance 572919 rs150912462 GRCh37: 1:228363176-228363176
GRCh38: 1:228175475-228175475
21 IBA57 NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) SNV Uncertain significance 574590 rs1420144150 GRCh37: 1:228353732-228353732
GRCh38: 1:228166031-228166031
22 IBA57 NM_001010867.4(IBA57):c.354C>A (p.His118Gln) SNV Uncertain significance 579645 rs1315886237 GRCh37: 1:228362405-228362405
GRCh38: 1:228174704-228174704
23 IBA57 NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) SNV Uncertain significance 639514 rs1026408197 GRCh37: 1:228353776-228353776
GRCh38: 1:228166075-228166075
24 IBA57 NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) SNV Uncertain significance 655156 rs1186238890 GRCh37: 1:228353779-228353779
GRCh38: 1:228166078-228166078
25 IBA57 NM_001010867.4(IBA57):c.748A>G (p.Met250Val) SNV Uncertain significance 1005540 GRCh37: 1:228362891-228362891
GRCh38: 1:228175190-228175190
26 IBA57 NM_001010867.4(IBA57):c.341+4A>G SNV Uncertain significance 1008432 GRCh37: 1:228353862-228353862
GRCh38: 1:228166161-228166161
27 IBA57 NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) SNV Uncertain significance 545650 rs1053773776 GRCh37: 1:228353833-228353833
GRCh38: 1:228166132-228166132
28 IBA57 NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) SNV Uncertain significance 937315 GRCh37: 1:228363036-228363036
GRCh38: 1:228175335-228175335
29 IBA57 NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) SNV Uncertain significance 1022231 GRCh37: 1:228362485-228362485
GRCh38: 1:228174784-228174784
30 IBA57 NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) SNV Uncertain significance 651713 rs199781237 GRCh37: 1:228353528-228353528
GRCh38: 1:228165827-228165827
31 IBA57 NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) SNV Uncertain significance 559322 rs149136930 GRCh37: 1:228362650-228362650
GRCh38: 1:228174949-228174949
32 IBA57 NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) SNV Uncertain significance 863483 GRCh37: 1:228362650-228362650
GRCh38: 1:228174949-228174949
33 IBA57 NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) SNV Uncertain significance 1034361 GRCh37: 1:228353783-228353783
GRCh38: 1:228166082-228166082
34 IBA57 NM_001010867.4(IBA57):c.732G>A (p.Glu244=) SNV Uncertain significance 1034362 GRCh37: 1:228362875-228362875
GRCh38: 1:228175174-228175174
35 IBA57 NM_001010867.4(IBA57):c.827G>A (p.Arg276His) SNV Uncertain significance 1034363 GRCh37: 1:228362970-228362970
GRCh38: 1:228175269-228175269
36 IBA57 NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) SNV Uncertain significance 1037759 GRCh37: 1:228362625-228362625
GRCh38: 1:228174924-228174924
37 IBA57 NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) SNV Uncertain significance 841605 GRCh37: 1:228363132-228363132
GRCh38: 1:228175431-228175431
38 IBA57 NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) SNV Uncertain significance 844143 GRCh37: 1:228353707-228353707
GRCh38: 1:228166006-228166006
39 IBA57 NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) SNV Likely benign 508383 rs202126055 GRCh37: 1:228362923-228362923
GRCh38: 1:228175222-228175222
40 IBA57 NM_001010867.4(IBA57):c.264C>G (p.Ala88=) SNV Likely benign 382792 rs13375853 GRCh37: 1:228353781-228353781
GRCh38: 1:228166080-228166080
41 IBA57 NM_001010867.4(IBA57):c.801C>T (p.Ala267=) SNV Likely benign 474297 rs138699407 GRCh37: 1:228362944-228362944
GRCh38: 1:228175243-228175243
42 IBA57 NM_001010867.4(IBA57):c.680-5T>A SNV Likely benign 704824 rs577050962 GRCh37: 1:228362818-228362818
GRCh38: 1:228175117-228175117
43 IBA57 NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) SNV Likely benign 707076 rs142734560 GRCh37: 1:228363073-228363073
GRCh38: 1:228175372-228175372
44 IBA57 NM_001010867.4(IBA57):c.150C>T (p.Cys50=) SNV Likely benign 707654 rs765132163 GRCh37: 1:228353667-228353667
GRCh38: 1:228165966-228165966
45 IBA57 NM_001010867.4(IBA57):c.961C>T (p.Leu321=) SNV Likely benign 541314 rs376206530 GRCh37: 1:228363104-228363104
GRCh38: 1:228175403-228175403
46 IBA57 NM_001010867.4(IBA57):c.210G>C (p.Leu70=) SNV Benign 559321 rs199589485 GRCh37: 1:228353727-228353727
GRCh38: 1:228166026-228166026
47 IBA57 NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) SNV Benign 559323 rs61745091 GRCh37: 1:228363123-228363123
GRCh38: 1:228175422-228175422
48 IBA57 NM_001010867.4(IBA57):c.462C>T (p.His154=) SNV Benign 381420 rs148398789 GRCh37: 1:228362513-228362513
GRCh38: 1:228174812-228174812
49 IBA57 NM_001010867.4(IBA57):c.645C>T (p.Asp215=) SNV Benign 541313 rs61743941 GRCh37: 1:228362696-228362696
GRCh38: 1:228174995-228174995

UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 IBA57 p.Gln314Pro VAR_069821 rs587777016

Expression for Multiple Mitochondrial Dysfunctions Syndrome 3

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 3.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 3

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 3

Cellular components related to Multiple Mitochondrial Dysfunctions Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 NUBPL NFU1 NDUFS8 NDUFS7 LIAS ISCA2
2 mitochondrial matrix GO:0005759 9.28 NUBPL NDUFS8 NDUFS7 LIAS ISCA2 ISCA1
3 respiratory chain GO:0070469 9.26 NDUFS8 NDUFS7
4 mitochondrial respiratory chain complex I GO:0005747 9.16 NDUFS8 NDUFS7

Biological processes related to Multiple Mitochondrial Dysfunctions Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 NUBPL NDUFS8 NDUFS7
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.37 NDUFS8 NDUFS7
3 protein maturation by iron-sulfur cluster transfer GO:0097428 9.33 NFU1 ISCA2 ISCA1
4 aerobic respiration GO:0009060 9.32 NDUFS8 NDUFS7
5 small molecule metabolic process GO:0044281 9.13 ISCA2 ISCA1 FDX2
6 iron-sulfur cluster assembly GO:0016226 9.02 NUBPL NFU1 ISCA2 ISCA1 IBA57

Molecular functions related to Multiple Mitochondrial Dysfunctions Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.91 NUBPL NFU1 NDUFS8 NDUFS7 LIAS ISCA2
2 iron ion binding GO:0005506 9.54 NFU1 ISCA2 ACO2
3 4 iron, 4 sulfur cluster binding GO:0051539 9.5 NUBPL NFU1 NDUFS8 NDUFS7 LIAS ISCA2
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.4 NDUFS8 NDUFS7
5 2 iron, 2 sulfur cluster binding GO:0051537 9.33 ISCA2 ISCA1 FDX2
6 NADH dehydrogenase activity GO:0003954 9.32 NDUFS8 NDUFS7
7 iron-sulfur cluster binding GO:0051536 9.28 NUBPL NFU1 NDUFS8 NDUFS7 LIAS ISCA2

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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