MCID: MTC098
MIFTS: 17

Mitochondrial Complex Iii Deficiency, Nuclear Type 9

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 53 71 28 69
Mc3dn9 53 71
Mitochondrial Complex Iii Deficiency Nuclear Type 9 12
Mitochondrial Complex Iii Deficiency, Nuclear 9 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

UniProtKB/Swiss-Prot : 71 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, and has symptoms including global developmental delay, hypoglycemia and feeding difficulties. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 9 is UQCC3 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3).

Description from OMIM: 616111

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

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

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
poor growth

Muscle Soft Tissue:
hypotonia
mitochondrial complex iii deficiency

Metabolic Features:
hypoglycemia
lactic acidosis

Abdomen Gastroin testinal:
poor feeding

Neurologic Central Nervous System:
delayed psychomotor development

Laboratory Abnormalities:
increased serum lactate


Clinical features from OMIM:

616111

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 feeding difficulties 31 HP:0011968
4 growth delay 31 HP:0001510
5 increased serum lactate 31 HP:0002151
6 lactic acidosis 31 HP:0003128
7 generalized hypotonia 31 HP:0001290

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 28 UQCC3

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

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

71
# Symbol AA change Variation ID SNP ID
1 UQCC3 p.Val20Glu VAR_071864 rs606231426

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UQCC3 NM_001085372.2(UQCC3): c.59T> A (p.Val20Glu) single nucleotide variant Pathogenic rs606231426 GRCh38 Chromosome 11, 62671804: 62671804

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
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
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