MC3DN1
MCID: MTC085
MIFTS: 31

Mitochondrial Complex Iii Deficiency, Nuclear Type 1 (MC3DN1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Nephrological 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 13 73
Mc3dn1 57 75
Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ] 40
Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome 59
Complex Iii Mitochondrial Respiratory Chain Deficiency 75
Complex 3 Mitochondrial Respiratory Chain Deficiency 75
Mitochondrial Complex Iii Deficiency Nuclear Type 1 12
Mitochondrial Complex Iii Deficiency, Nuclear 1 75

Characteristics:

Orphanet epidemiological data:

59
renal tubulopathy-encephalopathy-liver failure syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
may result in early death


HPO:

32
mitochondrial complex iii deficiency, nuclear type 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

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)

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 1, also known as mc3dn1, is related to mitochondrial complex iii deficiency and mitochondrial complex iii deficiency, nuclear type 2, and has symptoms including muscle spasticity, seizures and muscle weakness. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 1 is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include liver and testes, and related phenotypes are emotional lability and depressivity

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency 30.5 BCS1L UQCRB
2 mitochondrial complex iii deficiency, nuclear type 2 10.9
3 mitochondrial complex iii deficiency, nuclear type 6 10.9
4 mitochondrial complex iii deficiency, nuclear type 8 10.9
5 isolated complex iii deficiency 9.2 BCS1L UQCRB

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
cerebellar atrophy
cerebral atrophy
more
Growth Other:
failure to thrive
poor prenatal growth
poor postnatal growth

Metabolic Features:
hypoglycemia
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
tubulointerstitial nephritis
renal tubulopathy

Head And Neck Ears:
deafness (in some patients)

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

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

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

Abdomen Liver:
decreased liver function
cholestasis
biopsy shows fibrosis
cholangitis
hepatosiderosis
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
cataracts (rare)

Hematology:
coagulation defect due to decreased liver function


Clinical features from OMIM:

124000

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

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

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


muscle spasticity, seizures, muscle weakness

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

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

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

41
Liver, Testes

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

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

75 (show all 11)
# 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

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

6
(show top 50) (show all 207)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_004328.4(BCS1L): c.830G> A (p.Ser277Asn) single nucleotide variant Pathogenic rs121908571 GRCh37 Chromosome 2, 219527343: 219527343
2 BCS1L NM_004328.4(BCS1L): c.830G> A (p.Ser277Asn) single nucleotide variant Pathogenic rs121908571 GRCh38 Chromosome 2, 218662620: 218662620
3 BCS1L NM_004328.4(BCS1L): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121908573 GRCh37 Chromosome 2, 219526485: 219526485
4 BCS1L NM_004328.4(BCS1L): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121908573 GRCh38 Chromosome 2, 218661762: 218661762
5 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh37 Chromosome 2, 219527906: 219527906
6 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh38 Chromosome 2, 218663183: 218663183
7 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh37 Chromosome 2, 219525843: 219525843
8 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh38 Chromosome 2, 218661120: 218661120
9 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
10 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh38 Chromosome 2, 218661153: 218661153
11 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh37 Chromosome 2, 219526571: 219526571
12 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh38 Chromosome 2, 218661848: 218661848
13 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh37 Chromosome 2, 219525858: 219525858
14 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh38 Chromosome 2, 218661135: 218661135
15 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh37 Chromosome 2, 219526568: 219526568
16 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh38 Chromosome 2, 218661845: 218661845
17 UQCRB UQCRB, 4-BP DEL, NT338 deletion Pathogenic
18 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh37 Chromosome 2, 219525668: 219525668
19 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh38 Chromosome 2, 218660945: 218660945
20 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Likely pathogenic rs377025174 GRCh37 Chromosome 2, 219525915: 219525915
21 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Likely pathogenic rs377025174 GRCh38 Chromosome 2, 218661192: 218661192
22 TTC19 NM_017775.3(TTC19): c.612C> G (p.Phe204Leu) single nucleotide variant Uncertain significance rs544027755 GRCh38 Chromosome 17, 16006504: 16006504
23 TTC19 NM_017775.3(TTC19): c.612C> G (p.Phe204Leu) single nucleotide variant Uncertain significance rs544027755 GRCh37 Chromosome 17, 15909818: 15909818
24 TTC19 NM_017775.3(TTC19): c.-73G> A single nucleotide variant Uncertain significance rs149555498 GRCh37 Chromosome 17, 15903090: 15903090
25 TTC19 NM_017775.3(TTC19): c.-73G> A single nucleotide variant Uncertain significance rs149555498 GRCh38 Chromosome 17, 15999776: 15999776
26 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh37 Chromosome 2, 219525911: 219525911
27 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh38 Chromosome 2, 218661188: 218661188
28 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh38 Chromosome 2, 218661394: 218661394
29 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh37 Chromosome 2, 219526117: 219526117
30 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh37 Chromosome 2, 219524463: 219524463
31 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh38 Chromosome 2, 218659740: 218659740
32 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh37 Chromosome 2, 219524924: 219524924
33 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh38 Chromosome 2, 218660201: 218660201
34 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh37 Chromosome 2, 219525968: 219525968
35 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh38 Chromosome 2, 218661245: 218661245
36 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh37 Chromosome 2, 219525697: 219525697
37 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh38 Chromosome 2, 218660974: 218660974
38 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh37 Chromosome 2, 219525822: 219525822
39 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh38 Chromosome 2, 218661099: 218661099
40 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh37 Chromosome 2, 219527281: 219527281
41 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh38 Chromosome 2, 218662558: 218662558
42 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh37 Chromosome 2, 219524891: 219524891
43 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh38 Chromosome 2, 218660168: 218660168
44 BCS1L NM_004328.4(BCS1L): c.822G> A (p.Pro274=) single nucleotide variant Conflicting interpretations of pathogenicity rs112329020 GRCh37 Chromosome 2, 219527335: 219527335
45 BCS1L NM_004328.4(BCS1L): c.822G> A (p.Pro274=) single nucleotide variant Conflicting interpretations of pathogenicity rs112329020 GRCh38 Chromosome 2, 218662612: 218662612
46 UQCRQ NM_014402.4(UQCRQ): c.45C> T (p.Ile15=) single nucleotide variant Uncertain significance rs150139635 GRCh37 Chromosome 5, 132202618: 132202618
47 UQCRQ NM_014402.4(UQCRQ): c.45C> T (p.Ile15=) single nucleotide variant Uncertain significance rs150139635 GRCh38 Chromosome 5, 132866926: 132866926
48 UQCRQ NM_014402.4(UQCRQ): c.*249A> G single nucleotide variant Uncertain significance rs572786790 GRCh37 Chromosome 5, 132203523: 132203523
49 UQCRQ NM_014402.4(UQCRQ): c.*249A> G single nucleotide variant Uncertain significance rs572786790 GRCh38 Chromosome 5, 132867831: 132867831
50 UQCRQ NM_014402.4(UQCRQ): c.*545A> C single nucleotide variant Uncertain significance rs886059917 GRCh37 Chromosome 5, 132203819: 132203819

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

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 mitochondrial inner membrane GO:0005743 8.96 BCS1L UQCRB
2 mitochondrial respiratory chain complex III GO:0005750 8.62 BCS1L UQCRB

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 mitochondrial respiratory chain complex III assembly GO:0034551 8.62 BCS1L UQCRB

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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45 MESH via Orphanet
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