MCID: MTC087
MIFTS: 19

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 53 28 13 69
Mc3dn4 53 71
Mitochondrial Complex Iii Deficiency Nuclear Type 4 12
Mitochondrial Complex Iii Deficiency, Nuclear 4 71

Characteristics:

OMIM:

53
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:

31
mitochondrial complex iii deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot : 71 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, is also known as mc3dn4, and has symptoms including ataxia, abnormality of extrapyramidal motor function and athetosis. 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.

Description from OMIM: 615159

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
dystonia
hyperreflexia
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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 abnormality of extrapyramidal motor function 31 HP:0002071
3 athetosis 31 HP:0002305
4 dystonia 31 HP:0001332
5 intellectual disability 31 HP:0001249
6 hyperreflexia 31 HP:0001347
7 global developmental delay 31 HP:0001263
8 intellectual disability, severe 31 HP:0010864
9 absent speech 31 HP:0001344
10 increased serum lactate 31 HP:0002151
11 generalized hypotonia 31 HP:0001290

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 28 UQCRQ

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 4

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4:

38
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:

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....