MC3DN1
MCID: MTC085
MIFTS: 44

Mitochondrial Complex Iii Deficiency, Nuclear Type 1 (MC3DN1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 1 57 29 13 6 70
Mc1dn3 57 12 72
Mitochondrial Complex I Deficiency, Nuclear Type 3 57 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 3 29 6
Mc3dn1 57 72
Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ] 39
Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome 58
Complex Iii Mitochondrial Respiratory Chain Deficiency 72
Complex 3 Mitochondrial Respiratory Chain Deficiency 72
Mitochondrial Complex Iii Deficiency Nuclear Type 1 12
Nuclear Type Mitochondrial Complex I Deficiency 3 12
Mitochondrial Complex Iii Deficiency, Nuclear 1 72

Characteristics:

Orphanet epidemiological data:

58
renal tubulopathy-encephalopathy-liver failure syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
may result in early death


HPO:

31
mitochondrial complex iii deficiency, nuclear type 1:
Inheritance autosomal recessive inheritance mitochondrial inheritance
Onset and clinical course infantile onset

mitochondrial complex i deficiency, nuclear type 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 3: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex III deficiency, nuclear 1: 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.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 1, also known as mc1dn3, is related to mitochondrial complex iii deficiency, nuclear type 2 and mitochondrial complex iii deficiency, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 1 is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Prion disease and Cardiac muscle contraction. Affiliated tissues include liver, and related phenotypes are hearing impairment and intellectual disability

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFS7 on chromosome 19p13.3.

OMIM® : 57 Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). (124000) (Updated 05-Apr-2021)

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Graphical network of the top 20 diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:



Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 failure to thrive 31 HP:0001508
6 eeg abnormality 31 HP:0002353
7 abnormal pyramidal sign 31 HP:0007256
8 emotional lability 31 HP:0000712
9 depressivity 31 HP:0000716
10 ataxia 31 HP:0001251
11 dysarthria 31 HP:0001260
12 muscle weakness 31 HP:0001324
13 respiratory insufficiency 31 HP:0002093
14 developmental regression 31 HP:0002376
15 cataract 31 HP:0000518
16 global developmental delay 31 HP:0001263
17 hepatomegaly 31 HP:0002240
18 hallucinations 31 HP:0000738
19 feeding difficulties in infancy 31 HP:0008872
20 aminoaciduria 31 HP:0003355
21 hypoglycemia 31 HP:0001943
22 elevated hepatic transaminase 31 HP:0002910
23 hypertrophic cardiomyopathy 31 HP:0001639
24 ragged-red muscle fibers 31 HP:0003200
25 increased serum lactate 31 HP:0002151
26 abnormality of extrapyramidal motor function 31 HP:0002071
27 dystonia 31 HP:0001332
28 lethargy 31 HP:0001254
29 cholestasis 31 HP:0001396
30 rod-cone dystrophy 31 HP:0000510
31 encephalopathy 31 HP:0001298
32 lactic acidosis 31 HP:0003128
33 cerebellar atrophy 31 HP:0001272
34 metabolic acidosis 31 HP:0001942
35 cerebral atrophy 31 HP:0002059
36 generalized hypotonia 31 HP:0001290
37 tubulointerstitial nephritis 31 HP:0001970
38 brittle hair 31 HP:0002299
39 abnormality of the abdominal wall 31 HP:0004298
40 decreased liver function 31 HP:0001410
41 exercise intolerance 31 HP:0003546
42 microvesicular hepatic steatosis 31 HP:0001414
43 rhabdomyolysis 31 HP:0003201
44 abnormality of the coagulation cascade 31 HP:0003256
45 cholangitis 31 HP:0030151
46 mitochondrial encephalopathy 31 HP:0006789
47 decreased mitochondrial complex iii activity in liver tissue 31 HP:0006558
48 seizure 31 HP:0001250
49 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
cerebellar atrophy
cerebral atrophy
more
Muscle Soft Tissue:
muscle weakness
hypotonia
ragged red fibers seen on muscle biopsy
decreased mitochondrial complex iii activity
other mitochondrial complex enzyme activities may also be decreased

Metabolic Features:
hypoglycemia
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
tubulointerstitial nephritis
renal tubulopathy

Head And Neck Eyes:
cataracts (rare)

Skin Nails Hair Hair:
brittle hair (in some patients)

Growth Other:
failure to thrive
poor prenatal growth
poor postnatal growth

Laboratory Abnormalities:
aminoaciduria
increased serum lactate
abnormal liver function tests
decreased respiratory chain complex iii activity in multiple tissues

Abdomen Liver:
cholestasis
decreased liver function
cholangitis
biopsy shows fibrosis
hepatosiderosis
more
Head And Neck Ears:
deafness (in some patients)

Abdomen Gastrointestinal:
poor feeding

Hematology:
coagulation defect due to decreased liver function

Clinical features from OMIM®:

124000 618224 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:


seizures; muscle weakness; muscle spasticity

GenomeRNAi Phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.62 BCS1L
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.62 NDUFS7 UQCRQ
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.62 BCS1L NDUFS7 UQCRQ
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.62 UQCRQ
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.62 NDUFS7
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.62 BCS1L
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.62 NDUFS7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.62 NDUFS7 UQCRQ
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.62 BCS1L NDUFS7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.62 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.62 UQCRQ
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.62 BCS1L
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.62 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.62 NDUFS7
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.62 UQCRQ
16 Decreased shRNA abundance GR00297-A 9.13 NDUFS7 UQCRB UQCRQ

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 29 BCS1L
2 Mitochondrial Complex 1 Deficiency, Nuclear Type 3 29 NDUFS7

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

40
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

(show all 16)
# Title Authors PMID Year
1
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. 57 6
19508421 2009
2
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 57 6
19162478 2009
3
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 57 6
17403714 2007
4
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 57 6
12910490 2003
5
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 6 57
11528392 2001
6
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
7
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 6
21274865 2011
8
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. 57
20518024 2010
9
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 57
19389488 2009
10
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. 6
17604671 2007
11
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. 6
17275378 2007
12
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 6
17314340 2007
13
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. 6
15269216 2004
14
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. 6
12709789 2003
15
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 6
12215968 2002
16
Human mitochondrial complex I in health and disease. 6
10330338 1999

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCS1L NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) SNV Pathogenic 6163 rs121908571 GRCh37: 2:219527343-219527343
GRCh38: 2:218662620-218662620
2 BCS1L NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV Pathogenic 6164 rs121908572 GRCh37: 2:219526006-219526006
GRCh38: 2:218661283-218661283
3 BCS1L NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) SNV Pathogenic 6165 rs121908573 GRCh37: 2:219526485-219526485
GRCh38: 2:218661762-218661762
4 BCS1L NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) SNV Pathogenic 6166 rs121908574 GRCh37: 2:219527906-219527906
GRCh38: 2:218663183-218663183
5 BCS1L NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) SNV Pathogenic 6168 rs121908575 GRCh37: 2:219525843-219525843
GRCh38: 2:218661120-218661120
6 BCS1L NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) SNV Pathogenic 6173 rs121908580 GRCh37: 2:219525858-219525858
GRCh38: 2:218661135-218661135
7 UQCRB UQCRB, 4-BP DEL, NT338 Deletion Pathogenic 12299 GRCh37:
GRCh38:
8 NDUFS7 NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) SNV Pathogenic 7682 rs121434479 GRCh37: 19:1391143-1391143
GRCh38: 19:1391144-1391144
9 NDUFS7 NM_024407.5(NDUFS7):c.17-1167C>G SNV Pathogenic 7683 rs1568985256 GRCh37: 19:1386643-1386643
GRCh38: 19:1386644-1386644
10 NDUFS7 NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) SNV Pathogenic 7681 rs104894705 GRCh37: 19:1391005-1391005
GRCh38: 19:1391006-1391006
11 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
12 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
13 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
14 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
15 BCS1L NM_001079866.2(BCS1L):c.-50+405A>G SNV Pathogenic 553134 rs898301590 GRCh37: 2:219524871-219524871
GRCh38: 2:218660148-218660148
16 BCS1L NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) SNV Pathogenic 371015 rs749196764 GRCh37: 2:219525955-219525955
GRCh38: 2:218661232-218661232
17 BCS1L NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) SNV Pathogenic/Likely pathogenic 374395 rs776838028 GRCh37: 2:219526619-219526619
GRCh38: 2:218661896-218661896
18 BCS1L NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV Likely pathogenic 6174 rs144885874 GRCh37: 2:219526568-219526568
GRCh38: 2:218661845-218661845
19 NDUFS7 NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) SNV Likely pathogenic 689475 rs1171276645 GRCh37: 19:1391124-1391124
GRCh38: 19:1391125-1391125
20 BCS1L NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) SNV Uncertain significance 214159 rs148278887 GRCh37: 2:219526634-219526634
GRCh38: 2:218661911-218661911
21 BCS1L NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) SNV Uncertain significance 666656 rs146731467 GRCh37: 2:219527716-219527716
GRCh38: 2:218662993-218662993
22 BCS1L NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) SNV Uncertain significance 265046 rs368486097 GRCh37: 2:219526967-219526967
GRCh38: 2:218662244-218662244
23 BCS1L NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) SNV Uncertain significance 334360 rs112329020 GRCh37: 2:219527335-219527335
GRCh38: 2:218662612-218662612
24 BCS1L NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) SNV Uncertain significance 290322 rs142540289 GRCh37: 2:219525911-219525911
GRCh38: 2:218661188-218661188
25 BCS1L NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV Uncertain significance 214160 rs377025174 GRCh37: 2:219525915-219525915
GRCh38: 2:218661192-218661192
26 BCS1L NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) SNV Uncertain significance 214165 rs747956412 GRCh37: 2:219525979-219525979
GRCh38: 2:218661256-218661256
27 BCS1L NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV Uncertain significance 6171 rs121908578 GRCh37: 2:219526571-219526571
GRCh38: 2:218661848-218661848
28 BCS1L NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) SNV Uncertain significance 384871 rs148302981 GRCh37: 2:219527284-219527284
GRCh38: 2:218662561-218662561
29 BCS1L NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) SNV Uncertain significance 214156 rs144200704 GRCh37: 2:219525836-219525836
GRCh38: 2:218661113-218661113
30 BCS1L NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) SNV Uncertain significance 380986 rs756932413 GRCh37: 2:219525881-219525881
GRCh38: 2:218661158-218661158
31 UQCRQ NM_014402.5(UQCRQ):c.-31del Deletion Uncertain significance 350837 rs886059916 GRCh37: 5:132202361-132202361
GRCh38: 5:132866669-132866669
32 BCS1L NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) SNV Uncertain significance 554974 rs140812286 GRCh37: 2:219525927-219525927
GRCh38: 2:218661204-218661204
33 NCOR1 , TTC19 NM_006311.4(NCOR1):c.*2888A>G SNV Uncertain significance 321985 rs189970612 GRCh37: 17:15932722-15932722
GRCh38: 17:16029408-16029408
34 BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Uncertain significance 334355 rs367721351 GRCh37: 2:219525697-219525697
GRCh38: 2:218660974-218660974
35 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.-77G>A SNV Uncertain significance 321937 rs753100200 GRCh37: 17:15902985-15902985
GRCh38: 17:15999671-15999671
36 BCS1L NM_001079866.2(BCS1L):c.-43G>A SNV Uncertain significance 214155 rs145989550 GRCh37: 2:219525668-219525668
GRCh38: 2:218660945-218660945
37 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.76+10C>G SNV Uncertain significance 137769 rs200004394 GRCh37: 17:15902823-15902823
GRCh38: 17:15999509-15999509
38 TTC19 NM_017775.3(TTC19):c.-107A>T SNV Uncertain significance 137771 rs79724115 GRCh37: 17:15903056-15903056
GRCh38: 17:15999742-15999742
39 BCS1L NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) SNV Uncertain significance 334359 rs781666793 GRCh37: 2:219527281-219527281
GRCh38: 2:218662558-218662558
40 BCS1L NM_001079866.2(BCS1L):c.-50+458T>G SNV Uncertain significance 334354 rs188224298 GRCh37: 2:219524924-219524924
GRCh38: 2:218660201-218660201
41 BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 GRCh37: 2:219524463-219524463
GRCh38: 2:218659740-218659740
42 BCS1L NM_001079866.2(BCS1L):c.321-12G>A SNV Uncertain significance 334358 rs776363896 GRCh37: 2:219526117-219526117
GRCh38: 2:218661394-218661394
43 BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 GRCh37: 2:219524891-219524891
GRCh38: 2:218660168-218660168
44 BCS1L NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) SNV Uncertain significance 334356 rs886055626 GRCh37: 2:219525822-219525822
GRCh38: 2:218661099-218661099
45 BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Uncertain significance 334357 rs886055627 GRCh37: 2:219525968-219525968
GRCh38: 2:218661245-218661245
46 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV Uncertain significance 625207 rs369691608 GRCh37: 2:219525978-219525978
GRCh38: 2:218661255-218661255
47 BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 GRCh37: 2:219524431-219524431
GRCh38: 2:218659708-218659708
48 BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 GRCh37: 2:219526587-219526587
GRCh38: 2:218661864-218661864
49 TTC19 NM_017775.4(TTC19):c.*1324dup Duplication Uncertain significance 321971 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
50 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.-65G>A SNV Uncertain significance 321936 rs199843558 GRCh37: 17:15902973-15902973
GRCh38: 17:15999659-15999659

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 1:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 BCS1L p.Pro99Leu VAR_018159 rs121908572
2 BCS1L p.Arg155Pro VAR_018161 rs121908573
3 BCS1L p.Ser277Asn VAR_018162 rs121908571
4 BCS1L p.Val353Met VAR_018164 rs121908574
5 BCS1L p.Arg45Cys VAR_032087 rs121908575
6 BCS1L p.Arg184Cys VAR_032090 rs121908578
7 BCS1L p.Thr50Ala VAR_064615 rs121908580
8 BCS1L p.Arg73Cys VAR_064616 rs140812286
9 BCS1L p.Arg183Cys VAR_064617 rs144885874
10 BCS1L p.Phe368Ile VAR_064618
11 BCS1L p.Gly129Arg VAR_072243 rs105752105
12 NDUFS7 p.Val122Met VAR_008848 rs104894705

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 1.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Pathways related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 UQCRQ UQCRB NDUFS7
2 10.56 UQCRQ UQCRB

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Cellular components related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 UQCRQ UQCRB TTC19 NDUFS7 BCS1L
2 mitochondrial inner membrane GO:0005743 9.46 UQCRQ UQCRB TTC19 BCS1L
3 mitochondrial respiratory chain complex III GO:0005750 9.13 UQCRQ UQCRB BCS1L
4 respiratory chain GO:0070469 8.92 UQCRQ UQCRB TTC19 NDUFS7

Biological processes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 UQCRQ UQCRB TTC19 NDUFS7
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.32 NDUFS7 BCS1L
3 aerobic respiration GO:0009060 9.26 UQCRB NDUFS7
4 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 8.96 UQCRQ UQCRB
5 mitochondrial respiratory chain complex III assembly GO:0034551 8.62 TTC19 BCS1L

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

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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