MCID: MTC087
MIFTS: 21

Mitochondrial Complex Iii Deficiency, Nuclear Type 4

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 40 73
Mc3dn4 57 75
Mitochondrial Complex Iii Deficiency Nuclear Type 4 12
Mitochondrial Complex Iii Deficiency, Nuclear 4 75

Characteristics:

OMIM:

57
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:

32
mitochondrial complex iii deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615159
Disease Ontology 12 DOID:0080113
MeSH 44 D017237
UMLS 73 C3554607

Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 4, also known as mc3dn4, is related to mitochondrial complex iii deficiency, and has symptoms including ataxia, athetosis and abnormality of extrapyramidal motor function. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 4 is UQCRQ (Ubiquinol-Cytochrome C Reductase Complex III Subunit VII). Affiliated tissues include liver and brain, and related phenotypes are ataxia and global developmental delay

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

Description from OMIM: 615159

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 mitochondrial complex iii deficiency 9.0 GDF9 UQCRQ

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
hyperreflexia
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 global developmental delay 32 HP:0001263
3 generalized hypotonia 32 HP:0001290
4 dystonia 32 HP:0001332
5 absent speech 32 HP:0001344
6 hyperreflexia 32 HP:0001347
7 abnormality of extrapyramidal motor function 32 HP:0002071
8 increased serum lactate 32 HP:0002151
9 athetosis 32 HP:0002305
10 intellectual disability, severe 32 HP:0010864

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


ataxia, athetosis, abnormality of extrapyramidal motor function

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:

41
Liver, Brain

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

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

75
# Symbol AA change Variation ID SNP ID
1 UQCRQ p.Ser45Phe VAR_045911 rs11544803

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UQCRQ NM_014402.4(UQCRQ): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic rs11544803 GRCh37 Chromosome 5, 132202707: 132202707
2 UQCRQ NM_014402.4(UQCRQ): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic rs11544803 GRCh38 Chromosome 5, 132867015: 132867015

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

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

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
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