MC3DN3
MCID: MTC089
MIFTS: 17

Mitochondrial Complex Iii Deficiency, Nuclear Type 3 (MC3DN3)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 3 57 29 13 6 39 70
Mc3dn3 57 72
Mitochondrial Complex Iii Deficiency Nuclear Type 3 12
Mitochondrial Complex Iii Deficiency, Nuclear 3 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in late infancy
episodic metabolic decompensation, usually associated with illness
one turkish girl has been reported (last curated april 2013)


HPO:

31
mitochondrial complex iii deficiency, nuclear type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080112
OMIM® 57 615158
OMIM Phenotypic Series 57 PS124000
MeSH 44 D017237
UMLS 70 C3554606

Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

UniProtKB/Swiss-Prot : 72 Mitochondrial complex III deficiency, nuclear 3: 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 3, is also known as mc3dn3. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 3 is UQCRB (Ubiquinol-Cytochrome C Reductase Binding Protein). Affiliated tissues include liver, and related phenotypes are hepatomegaly and hypoglycemia

Disease Ontology : 12 A mitochondrial complex III deficiency that has material basis in homozygous mutation in the UQCRB gene on chromosome 8q22.

More information from OMIM: 615158 PS124000

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

31
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 hypoglycemia 31 HP:0001943
3 increased serum lactate 31 HP:0002151
4 metabolic acidosis 31 HP:0001942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypoglycemia
increased serum lactate during metabolic crisis
decreased mitochondrial complex iii activity in liver and fibroblasts

Neurologic Central Nervous System:
normal psychomotor development

Metabolic Features:
metabolic acidosis

Abdomen Liver:
hepatomegaly, transient

Clinical features from OMIM®:

615158 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 29 UQCRB

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

40
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

# Title Authors PMID Year
1
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. 57
12709789 2003

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UQCRB NM_006294.5(UQCRB):c.258+268G>A SNV Likely benign 811923 rs145799884 GRCh37: 8:97243734-97243734
GRCh38: 8:96231506-96231506

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 3.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 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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