MCID: MTC095
MIFTS: 19

Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 7 57 29 6 40 73
Mc3dn7 57 75
Mitochondrial Complex Iii Deficiency Nuclear Type 7 12
Mitochondrial Complex Iii Deficiency, Nuclear 7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one family has been reported (last curated june 2014)


HPO:

32
mitochondrial complex iii deficiency, nuclear type 7:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

UniProtKB/Swiss-Prot : 75 Mitochondrial complex III deficiency, nuclear 7: 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. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 7, is also known as mc3dn7, and has symptoms including seizures An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 7 is UQCC2 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2). Affiliated tissues include skeletal muscle and testis, and related phenotypes are seizures and global developmental delay

Disease Ontology : 12 A mitochondrial complex III deficiency that has material basis in homozygous mutation in the UQCC2 gene on chromosome 6p21.

Description from OMIM: 615824

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
poor speech
delayed psychomotor development

Growth Other:
intrauterine growth retardation

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
autistic features

Head And Neck Eyes:
synophrys
epicanthal folds
upslanting palpebral fissures

Muscle Soft Tissue:
hypotonia, neonatal

Genitourinary External Genitalia Male:
undescended testis

Head And Neck Nose:
depressed nasal bridge

Genitourinary Kidneys:
proximal renal tubular acidosis

Metabolic Features:
metabolic acidosis

Skeletal Hands:
postaxial polydactyly

Laboratory Abnormalities:
increased serum and csf lactate
decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)
secondary decreases in complex i and iv activity

Head And Neck Ears:
hearing impairment, sensorineural, mild


Clinical features from OMIM:

615824

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 depressed nasal bridge 32 HP:0005280
4 neonatal hypotonia 32 HP:0001319
5 epicanthus 32 HP:0000286
6 cryptorchidism 32 HP:0000028
7 intrauterine growth retardation 32 HP:0001511
8 upslanted palpebral fissure 32 HP:0000582
9 proximal renal tubular acidosis 32 HP:0002049
10 aggressive behavior 32 HP:0000718
11 metabolic acidosis 32 HP:0001942
12 synophrys 32 HP:0000664
13 hyperactivity 32 HP:0000752
14 poor speech 32 HP:0002465
15 postaxial polydactyly 32 HP:0100259

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7:


seizures

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 29 UQCC2

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

41
Skeletal Muscle, Testis

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UQCC2 NM_032340.3(UQCC2): c.214-3C> G single nucleotide variant Pathogenic rs587777410 GRCh37 Chromosome 6, 33668293: 33668293
2 UQCC2 NM_032340.3(UQCC2): c.214-3C> G single nucleotide variant Pathogenic rs587777410 GRCh38 Chromosome 6, 33700516: 33700516

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 7.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

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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