MC3DN10
MCID: MTC202
MIFTS: 17

Mitochondrial Complex Iii Deficiency, Nuclear Type 10 (MC3DN10)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 10:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 10 56 73
Mc3dn10 56 73
Mitochondrial Complex 3 Deficiency, Nuclear Type 10 6
Mitochondrial Complex Iii Deficiency, Nuclear 10 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
two unrelated patients have been reported (last curated february 2020)


HPO:

31
mitochondrial complex iii deficiency, nuclear type 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

UniProtKB/Swiss-Prot : 73 Mitochondrial complex III deficiency, nuclear 10: 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. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis.

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 10, is also known as mc3dn10. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 10 is UQCRFS1 (Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1). Related phenotypes are muscular hypotonia and feeding difficulties in infancy

More information from OMIM: 618775 PS124000

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 10:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 very rare (1%) HP:0001252
2 feeding difficulties in infancy 31 very rare (1%) HP:0008872
3 muscle weakness 31 very rare (1%) HP:0001324
4 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
5 elevated serum creatine kinase 31 very rare (1%) HP:0003236
6 intrauterine growth retardation 31 very rare (1%) HP:0001511
7 cholelithiasis 31 very rare (1%) HP:0001081
8 thrombocytopenia 31 very rare (1%) HP:0001873
9 motor delay 31 very rare (1%) HP:0001270
10 ventricular septal defect 31 very rare (1%) HP:0001629
11 abnormality of coagulation 31 very rare (1%) HP:0001928
12 hypothermia 31 very rare (1%) HP:0002045
13 small for gestational age 31 very rare (1%) HP:0001518
14 pericardial effusion 31 very rare (1%) HP:0001698
15 alopecia totalis 31 very rare (1%) HP:0007418
16 hyperventilation 31 very rare (1%) HP:0002883
17 papilledema 31 very rare (1%) HP:0001085
18 persistent left superior vena cava 31 very rare (1%) HP:0005301
19 bradycardia 31 very rare (1%) HP:0001662
20 normochromic anemia 31 very rare (1%) HP:0001895
21 stress/infection-induced lactic acidosis 31 very rare (1%) HP:0004897
22 persistent fetal circulation 31 very rare (1%) HP:0011726

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia

Hematology:
thrombocytopenia
normochromic anemia

Cardiovascular Vascular:
persistent fetal circulation

Neurologic Central Nervous System:
delayed motor development, mild

Cardiovascular Heart:
hypertrophic cardiomyopathy
fetal bradycardia

Laboratory Abnormalities:
increased serum lactate
increased serum alanine
fibroblasts show isolated complex iii deficiency

Skin Nails Hair Hair:
scalp alopecia

Head And Neck Eyes:
hearing impairment (1 patient)

Clinical features from OMIM:

618775

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 10:

# Title Authors PMID Year
1
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. 56 6
31883641 2020

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 10:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>CSNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159
2 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763
3 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 10.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 10

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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