MCID: MTC089
MIFTS: 16

Mitochondrial Complex Iii Deficiency, Nuclear Type 3

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 40 73
Mc3dn3 57 75
Mitochondrial Complex Iii Deficiency Nuclear Type 3 12
Mitochondrial Complex Iii Deficiency, Nuclear 3 75

Characteristics:

OMIM:

57
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:

32
mitochondrial complex iii deficiency, nuclear type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615158
Disease Ontology 12 DOID:0080112
MeSH 44 D017237
UMLS 73 C3554606

Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

UniProtKB/Swiss-Prot : 75 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 metabolic acidosis and hypoglycemia

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

Description from OMIM: 615158

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly, transient

Metabolic Features:
metabolic acidosis

Neurologic Central Nervous System:
normal psychomotor development

Laboratory Abnormalities:
increased serum lactate during metabolic crisis
hypoglycemia
decreased mitochondrial complex iii activity in liver and fibroblasts


Clinical features from OMIM:

615158

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

32
# Description HPO Frequency HPO Source Accession
1 metabolic acidosis 32 HP:0001942
2 hypoglycemia 32 HP:0001943

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:

41
Liver

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UQCRB NM_006294.4(UQCRB): c.306_309delAAAA (p.Arg105Lysfs) deletion Pathogenic rs886043294 GRCh37 Chromosome 8, 97243310: 97243313
2 UQCRB NM_006294.4(UQCRB): c.306_309delAAAA (p.Arg105Lysfs) deletion Pathogenic rs886043294 GRCh38 Chromosome 8, 96231082: 96231085

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....