MC3DN9
MCID: MTC098
MIFTS: 17

Mitochondrial Complex Iii Deficiency, Nuclear Type 9 (MC3DN9)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 9 57 72 29 6 70
Mc3dn9 57 72
Mitochondrial Complex Iii Deficiency, Nuclear, Type 9 39
Mitochondrial Complex Iii Deficiency Nuclear Type 9 12
Mitochondrial Complex Iii Deficiency, Nuclear 9 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
one patient has been reported (last curated december 2014)


HPO:

31
mitochondrial complex iii deficiency, nuclear type 9:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080118
OMIM® 57 616111
OMIM Phenotypic Series 57 PS124000
MeSH 44 D028361
UMLS 70 C4015253

Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

UniProtKB/Swiss-Prot : 72 Mitochondrial complex III deficiency, nuclear 9: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 9, is also known as mc3dn9. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 9 is UQCC3 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3). Related phenotypes are global developmental delay and hypoglycemia

Disease Ontology : 12 A mitochondrial complex III deficiency that has material basis in homozygous mutation in the UQCC3 gene on chromosome 11q12.

More information from OMIM: 616111 PS124000

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypoglycemia 31 HP:0001943
3 growth delay 31 HP:0001510
4 increased serum lactate 31 HP:0002151
5 lactic acidosis 31 HP:0003128
6 feeding difficulties 31 HP:0011968
7 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Metabolic Features:
hypoglycemia
lactic acidosis

Muscle Soft Tissue:
hypotonia
mitochondrial complex iii deficiency

Neurologic Central Nervous System:
delayed psychomotor development

Laboratory Abnormalities:
increased serum lactate

Abdomen Gastrointestinal:
poor feeding

Growth Other:
poor growth

Clinical features from OMIM®:

616111 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 29 UQCC3

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

# Title Authors PMID Year
1
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. 57 6
25008109 2014

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UQCC3 NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) SNV Pathogenic 161120 rs606231426 GRCh37: 11:62439276-62439276
GRCh38: 11:62671804-62671804

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 9:

72
# Symbol AA change Variation ID SNP ID
1 UQCC3 p.Val20Glu VAR_071864 rs606231426

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 9.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

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
Content
Loading form....