MCID: MTC098
MIFTS: 19

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 57 75 29 6 73
Mc3dn9 57 75
Mitochondrial Complex Iii Deficiency, Nuclear, Type 9 40
Mitochondrial Complex Iii Deficiency Nuclear Type 9 12
Mitochondrial Complex Iii Deficiency, Nuclear 9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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, also known as mc3dn9, is related to mitochondrial complex iii deficiency. 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.

Description from OMIM: 616111

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 9

Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency 9.0 LBHD1 UQCC3

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

Muscle Soft Tissue:
hypotonia
mitochondrial complex iii deficiency

Metabolic Features:
hypoglycemia
lactic acidosis

Abdomen Gastrointestinal:
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 hypoglycemia 32 HP:0001943
3 feeding difficulties 32 HP:0011968
4 growth delay 32 HP:0001510
5 increased serum lactate 32 HP:0002151
6 lactic acidosis 32 HP:0003128
7 generalized hypotonia 32 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 29 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:

75
# 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
2 UQCC3 NM_001085372.2(UQCC3): c.59T> A (p.Val20Glu) single nucleotide variant Pathogenic rs606231426 GRCh37 Chromosome 11, 62439276: 62439276

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 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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