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 54 71 29 69
Mitochondrial Complex Iii Deficiency Nuclear Type 9 12
Mitochondrial Complex Iii Deficiency, Nuclear 9 71
Mc3dn9 71

Characteristics:

OMIM:

54
Miscellaneous:
onset at birth
one patient has been reported (last curated december 2014)

Inheritance:
autosomal recessive


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 : 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, also known as mitochondrial complex iii deficiency nuclear type 9, is related to mitochondrial respiratory chain complex iii deficiency, uqcc3-related, and has symptoms including global developmental delay, lactic acidosis and increased serum lactate. 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

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

id Related Disease Score Top Affiliating Genes
1 mitochondrial respiratory chain complex iii deficiency, uqcc3-related 11.3

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

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum lactate

Neurologic- Central Nervous System:
delayed psychomotor development

Abdomen- Gastroin testinal:
poor feeding

Metabolic Features:
lactic acidosis
hypoglycemia

Muscle Soft Tissue:
mitochondrial complex iii deficiency
hypotonia

Growth- Other:
poor growth


Clinical features from OMIM:

616111

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

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 lactic acidosis 32 HP:0003128
3 increased serum lactate 32 HP:0002151
4 hypoglycemia 32 HP:0001943
5 feeding difficulties 32 HP:0011968
6 muscular hypotonia 32 HP:0001252
7 growth delay 32 HP:0001510

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:

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

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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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