MC3DN4
MCID: MTC087
MIFTS: 32

Mitochondrial Complex Iii Deficiency, Nuclear Type 4 (MC3DN4)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 4 57 29 13 6 39 70
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 57 72
Mc3dn4 57 72
Mc4dn3 57 72
Mitochondrial Complex Iii Deficiency Nuclear Type 4 12
Mitochondrial Complex 4 Deficiency, Nuclear Type 3 6
Mitochondrial Complex Iii Deficiency, Nuclear 4 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in the first month of life
one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 3:
Onset and clinical course death in infancy infantile onset neonatal onset
Inheritance autosomal recessive inheritance

mitochondrial complex iii deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot : 72 Mitochondrial complex III deficiency, nuclear 4: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Mitochondrial complex IV deficiency, nuclear type 3: An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 4, also known as mitochondrial complex iv deficiency, nuclear type 3, is related to leigh syndrome, and has symptoms including ataxia, abnormality of extrapyramidal motor function and athetosis. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 4 is UQCRQ (Ubiquinol-Cytochrome C Reductase Complex III Subunit VII), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye and brain, and related phenotypes are failure to thrive and ptosis

Disease Ontology : 12 A mitochondrial complex III deficiency that has material basis in homozygous mutation in the UQCRQ gene on chromosome 5q31.

More information from OMIM: 615159 619046 PS124000 PS220110

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 9.5 UQCRQ COX10

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 ptosis 31 very rare (1%) HP:0000508
3 nystagmus 31 very rare (1%) HP:0000639
4 ataxia 31 very rare (1%) HP:0001251
5 muscle weakness 31 very rare (1%) HP:0001324
6 splenomegaly 31 very rare (1%) HP:0001744
7 sensorineural hearing impairment 31 very rare (1%) HP:0000407
8 feeding difficulties in infancy 31 very rare (1%) HP:0008872
9 increased serum lactate 31 very rare (1%) HP:0002151
10 neonatal hypoglycemia 31 very rare (1%) HP:0001998
11 poor eye contact 31 very rare (1%) HP:0000817
12 increased csf lactate 31 very rare (1%) HP:0002490
13 lactic acidosis 31 very rare (1%) HP:0003128
14 increased serum pyruvate 31 very rare (1%) HP:0003542
15 status epilepticus 31 very rare (1%) HP:0002133
16 cardiomyopathy 31 very rare (1%) HP:0001638
17 metabolic acidosis 31 very rare (1%) HP:0001942
18 generalized hypotonia 31 very rare (1%) HP:0001290
19 hyperalaninemia 31 very rare (1%) HP:0003348
20 macrocytic anemia 31 very rare (1%) HP:0001972
21 brisk reflexes 31 very rare (1%) HP:0001348
22 hyperprolinemia 31 very rare (1%) HP:0008358
23 agitation 31 very rare (1%) HP:0000713
24 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
25 focal t2 hyperintense thalamic lesion 31 very rare (1%) HP:0012692
26 persistent head lag 31 very rare (1%) HP:0032988
27 hyperreflexia 31 HP:0001347
28 global developmental delay 31 HP:0001263
29 intellectual disability, severe 31 HP:0010864
30 absent speech 31 HP:0001344
31 abnormality of extrapyramidal motor function 31 HP:0002071
32 dystonia 31 HP:0001332
33 athetosis 31 HP:0002305
34 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dystonia
hypotonia
extrapyramidal signs
more
Muscle Soft Tissue:
decreased mitochondrial complex iii activity seen on muscle biopsy

Laboratory Abnormalities:
increased serum lactate
decreased mitochondrial complex iii activity seen in muscle

Clinical features from OMIM®:

615159 619046 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:


ataxia; abnormality of extrapyramidal motor function; athetosis

GenomeRNAi Phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.32 UQCRQ
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.32 COX10 UQCRQ
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.32 COX10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.32 UQCRQ
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.32 UQCRQ
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.32 COX10
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.32 UQCRQ
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.32 COX10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.32 UQCRQ
10 Decreased shRNA abundance GR00297-A 8.96 COX10 UQCRQ

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 29 UQCRQ

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

40
Eye, Brain

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

# Title Authors PMID Year
1
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 6 57
18439546 2008
2
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. 6
15455402 2004
3
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 6
12928484 2003
4
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. 6
10767350 2000

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX10 NM_001303.4(COX10):c.612C>A (p.Asn204Lys) SNV Pathogenic 7522 rs104894560 GRCh37: 17:14005547-14005547
GRCh38: 17:14102230-14102230
2 COX10 NM_001303.4(COX10):c.587C>A (p.Thr196Lys) SNV Pathogenic 7523 rs104894555 GRCh37: 17:14005522-14005522
GRCh38: 17:14102205-14102205
3 COX10 NM_001303.4(COX10):c.674C>T (p.Pro225Leu) SNV Pathogenic 7524 rs104894556 GRCh37: 17:14063243-14063243
GRCh38: 17:14159926-14159926
4 COX10 NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) SNV Pathogenic 7526 rs104894557 GRCh37: 17:14110205-14110205
GRCh38: 17:14206888-14206888
5 COX10 NM_001303.4(COX10):c.2T>C (p.Met1Thr) SNV Pathogenic 7527 rs387906383 GRCh37: 17:13972924-13972924
GRCh38: 17:14069607-14069607
6 COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val) SNV Pathogenic 7525 rs104894557 GRCh37: 17:14110205-14110205
GRCh38: 17:14206888-14206888
7 UQCRQ NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) SNV Pathogenic 729 rs11544803 GRCh37: 5:132202707-132202707
GRCh38: 5:132867015-132867015
8 UQCRQ NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) SNV Uncertain significance 137891 rs36093416 GRCh37: 5:132202681-132202681
GRCh38: 5:132866989-132866989
9 UQCRQ NM_014402.5(UQCRQ):c.*18C>T SNV Uncertain significance 350840 rs768723651 GRCh37: 5:132203292-132203292
GRCh38: 5:132867600-132867600
10 UQCRQ NM_014402.5(UQCRQ):c.90C>T (p.Val30=) SNV Uncertain significance 669826 rs146307558 GRCh37: 5:132202663-132202663
GRCh38: 5:132866971-132866971
11 UQCRQ NM_014402.5(UQCRQ):c.-18G>C SNV Uncertain significance 350838 rs527907338 GRCh37: 5:132202375-132202375
GRCh38: 5:132866683-132866683
12 UQCRQ NM_014402.5(UQCRQ):c.-16C>T SNV Uncertain significance 904277 GRCh37: 5:132202377-132202377
GRCh38: 5:132866685-132866685
13 UQCRQ NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) SNV Uncertain significance 215349 rs137995316 GRCh37: 5:132202583-132202583
GRCh38: 5:132866891-132866891
14 UQCRQ NM_014402.5(UQCRQ):c.22C>A (p.Leu8Met) SNV Uncertain significance 1033694 GRCh37: 5:132202595-132202595
GRCh38: 5:132866903-132866903
15 UQCRQ NM_014402.5(UQCRQ):c.*756C>T SNV Uncertain significance 350853 rs757790355 GRCh37: 5:132204030-132204030
GRCh38: 5:132868338-132868338
16 UQCRQ NM_014402.5(UQCRQ):c.*971C>A SNV Uncertain significance 350856 rs879668666 GRCh37: 5:132204245-132204245
GRCh38: 5:132868553-132868553
17 UQCRQ NM_014402.5(UQCRQ):c.*236C>G SNV Uncertain significance 350842 rs116229809 GRCh37: 5:132203510-132203510
GRCh38: 5:132867818-132867818
18 UQCRQ NM_014402.5(UQCRQ):c.*1058A>G SNV Uncertain significance 350859 rs886059918 GRCh37: 5:132204332-132204332
GRCh38: 5:132868640-132868640
19 UQCRQ NM_014402.5(UQCRQ):c.*979G>A SNV Uncertain significance 350857 rs536513933 GRCh37: 5:132204253-132204253
GRCh38: 5:132868561-132868561
20 UQCRQ NM_014402.5(UQCRQ):c.*1078T>A SNV Uncertain significance 350860 rs149048464 GRCh37: 5:132204352-132204352
GRCh38: 5:132868660-132868660
21 UQCRQ NM_014402.5(UQCRQ):c.*1204G>A SNV Uncertain significance 350863 rs116236652 GRCh37: 5:132204478-132204478
GRCh38: 5:132868786-132868786
22 UQCRQ NM_014402.5(UQCRQ):c.*236C>T SNV Uncertain significance 350843 rs116229809 GRCh37: 5:132203510-132203510
GRCh38: 5:132867818-132867818
23 UQCRQ NM_014402.5(UQCRQ):c.45C>T (p.Ile15=) SNV Uncertain significance 350839 rs150139635 GRCh37: 5:132202618-132202618
GRCh38: 5:132866926-132866926
24 UQCRQ NM_014402.5(UQCRQ):c.*1026C>G SNV Uncertain significance 350858 rs749663767 GRCh37: 5:132204300-132204300
GRCh38: 5:132868608-132868608
25 UQCRQ NM_014402.5(UQCRQ):c.*19G>T SNV Uncertain significance 350841 rs774125650 GRCh37: 5:132203293-132203293
GRCh38: 5:132867601-132867601
26 UQCRQ NM_014402.5(UQCRQ):c.*1086A>C SNV Uncertain significance 350861 rs886059919 GRCh37: 5:132204360-132204360
GRCh38: 5:132868668-132868668
27 UQCRQ NM_014402.5(UQCRQ):c.*249A>G SNV Uncertain significance 350844 rs572786790 GRCh37: 5:132203523-132203523
GRCh38: 5:132867831-132867831
28 UQCRQ NM_014402.5(UQCRQ):c.*364C>T SNV Uncertain significance 350847 rs186810817 GRCh37: 5:132203638-132203638
GRCh38: 5:132867946-132867946
29 UQCRQ NM_014402.5(UQCRQ):c.*658A>C SNV Uncertain significance 350850 rs188040859 GRCh37: 5:132203932-132203932
GRCh38: 5:132868240-132868240
30 UQCRQ NM_014402.5(UQCRQ):c.*102T>C SNV Uncertain significance 904278 GRCh37: 5:132203376-132203376
GRCh38: 5:132867684-132867684
31 UQCRQ NM_014402.5(UQCRQ):c.*1010C>G SNV Uncertain significance 904348 GRCh37: 5:132204284-132204284
GRCh38: 5:132868592-132868592
32 UQCRQ NM_014402.5(UQCRQ):c.*1115G>C SNV Uncertain significance 904349 GRCh37: 5:132204389-132204389
GRCh38: 5:132868697-132868697
33 UQCRQ NM_014402.5(UQCRQ):c.*342C>T SNV Uncertain significance 905068 GRCh37: 5:132203616-132203616
GRCh38: 5:132867924-132867924
34 UQCRQ NM_014402.5(UQCRQ):c.*359G>T SNV Uncertain significance 905069 GRCh37: 5:132203633-132203633
GRCh38: 5:132867941-132867941
35 UQCRQ NM_014402.5(UQCRQ):c.*468G>A SNV Uncertain significance 905070 GRCh37: 5:132203742-132203742
GRCh38: 5:132868050-132868050
36 UQCRQ NM_014402.5(UQCRQ):c.*1120A>C SNV Uncertain significance 905150 GRCh37: 5:132204394-132204394
GRCh38: 5:132868702-132868702
37 UQCRQ NM_014402.5(UQCRQ):c.*1177G>A SNV Uncertain significance 905151 GRCh37: 5:132204451-132204451
GRCh38: 5:132868759-132868759
38 UQCRQ NM_014402.5(UQCRQ):c.*1193A>G SNV Uncertain significance 905152 GRCh37: 5:132204467-132204467
GRCh38: 5:132868775-132868775
39 UQCRQ NM_014402.5(UQCRQ):c.*1239A>G SNV Uncertain significance 905153 GRCh37: 5:132204513-132204513
GRCh38: 5:132868821-132868821
40 UQCRQ NM_014402.5(UQCRQ):c.*485G>A SNV Uncertain significance 906651 GRCh37: 5:132203759-132203759
GRCh38: 5:132868067-132868067
41 UQCRQ NM_014402.5(UQCRQ):c.*552C>T SNV Uncertain significance 906652 GRCh37: 5:132203826-132203826
GRCh38: 5:132868134-132868134
42 UQCRQ NM_014402.5(UQCRQ):c.*622T>G SNV Uncertain significance 906653 GRCh37: 5:132203896-132203896
GRCh38: 5:132868204-132868204
43 UQCRQ NM_014402.5(UQCRQ):c.*697G>C SNV Uncertain significance 906654 GRCh37: 5:132203971-132203971
GRCh38: 5:132868279-132868279
44 UQCRQ NM_014402.5(UQCRQ):c.*803A>G SNV Uncertain significance 907684 GRCh37: 5:132204077-132204077
GRCh38: 5:132868385-132868385
45 UQCRQ NM_014402.5(UQCRQ):c.*882G>T SNV Uncertain significance 907685 GRCh37: 5:132204156-132204156
GRCh38: 5:132868464-132868464
46 UQCRQ NM_014402.5(UQCRQ):c.*953A>T SNV Uncertain significance 907686 GRCh37: 5:132204227-132204227
GRCh38: 5:132868535-132868535
47 UQCRQ NM_014402.5(UQCRQ):c.*970A>G SNV Uncertain significance 907687 GRCh37: 5:132204244-132204244
GRCh38: 5:132868552-132868552
48 UQCRQ NM_014402.5(UQCRQ):c.*545A>C SNV Uncertain significance 350848 rs886059917 GRCh37: 5:132203819-132203819
GRCh38: 5:132868127-132868127
49 UQCRQ NM_014402.5(UQCRQ):c.*332G>A SNV Uncertain significance 350845 rs182167836 GRCh37: 5:132203606-132203606
GRCh38: 5:132867914-132867914
50 UQCRQ NM_014402.5(UQCRQ):c.*970A>C SNV Uncertain significance 350855 rs185184076 GRCh37: 5:132204244-132204244
GRCh38: 5:132868552-132868552

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

72
# Symbol AA change Variation ID SNP ID
1 UQCRQ p.Ser45Phe VAR_045911 rs11544803

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 4.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Cellular components related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.62 UQCRQ COX10

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

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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