MC3DN7
MCID: MTC095
MIFTS: 21

Mitochondrial Complex Iii Deficiency, Nuclear Type 7 (MC3DN7)

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 39 70
Mc3dn7 57 72
Mitochondrial Complex Iii Deficiency Nuclear Type 7 12
Mitochondrial Complex Iii Deficiency, Nuclear 7 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated patients have been reported (last curated october, 2018)


HPO:

31
mitochondrial complex iii deficiency, nuclear type 7:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

UniProtKB/Swiss-Prot : 72 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 global developmental delay and depressed nasal bridge

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

More information from OMIM: 615824 PS124000

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

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

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

31 (showing 14, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 depressed nasal bridge 31 HP:0005280
3 neonatal hypotonia 31 HP:0001319
4 cryptorchidism 31 HP:0000028
5 intrauterine growth retardation 31 HP:0001511
6 epicanthus 31 HP:0000286
7 upslanted palpebral fissure 31 HP:0000582
8 proximal renal tubular acidosis 31 HP:0002049
9 synophrys 31 HP:0000664
10 aggressive behavior 31 HP:0000718
11 hyperactivity 31 HP:0000752
12 poor speech 31 HP:0002465
13 postaxial polydactyly 31 HP:0100259
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
poor speech
delayed psychomotor development

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
synophrys
epicanthal folds
upslanting palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
autistic features

Muscle Soft Tissue:
hypotonia, neonatal

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 (1 patient)

Head And Neck Nose:
depressed nasal bridge

Genitourinary Kidneys:
proximal renal tubular acidosis

Metabolic Features:
metabolic acidosis

Skeletal Hands:
postaxial polydactyly

Head And Neck Face:
dysmorphic features (in some patients)

Genitourinary External Genitalia Male:
undescended testis

Clinical features from OMIM®:

615824 (Updated 20-May-2021)

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:

40
Skeletal Muscle, Testis

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7:

(showing 2, show less)
# Title Authors PMID Year
1
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. 57 6
28804536 2017
2
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. 6 57
24385928 2013

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 7

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

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UQCC2 NM_032340.4(UQCC2):c.214-3C>G SNV Pathogenic 133295 rs587777410 GRCh37: 6:33668293-33668293
GRCh38: 6:33700516-33700516
2 UQCC2 NM_032340.4(UQCC2):c.23G>C (p.Arg8Pro) SNV Pathogenic 585258 rs1373387327 GRCh37: 6:33679441-33679441
GRCh38: 6:33711664-33711664
3 UQCC2 NM_032340.4(UQCC2):c.37T>C (p.Cys13Arg) SNV Uncertain significance 1032949 GRCh37: 6:33679427-33679427
GRCh38: 6:33711650-33711650

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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