MC5DN6
MCID: MTC201
MIFTS: 18

Mitochondrial Complex V Deficiency, Nuclear Type 6 (MC5DN6)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 6

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 6:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 6 57 73
Mc5dn6 57 12 73
Mitochondrial Complex V Deficiency, Nuclear Type 6 73 17
Mitochondrial Complex 5 Deficiency, Nuclear Type 6 6
Mitochondrial Complex V Deficiency Nuclear Type 6 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
death in childhood may occur
episodic regression is associated with illness, stress, fever, or general anesthesia
three families of ashkenazi jewish descent have been reported (last curated november 2019)


HPO:

31
mitochondrial complex v deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:0111749
OMIM® 57 618683
OMIM Phenotypic Series 57 PS604273
MeSH 44 D017237

Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 6

OMIM® : 57 Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see 256000) (summary by Barca et al., 2018). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 (604273). (618683) (Updated 05-Mar-2021)

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 6, is also known as mc5dn6. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 6 is ATP5MK (ATP Synthase Membrane Subunit K). Related phenotypes are hyperreflexia and ataxia

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has material basis in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33.

UniProtKB/Swiss-Prot : 73 Mitochondrial complex V deficiency, nuclear type 6: An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome.

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 6

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 6

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 very rare (1%) HP:0001347
2 ataxia 31 very rare (1%) HP:0001251
3 chorea 31 very rare (1%) HP:0002072
4 developmental regression 31 very rare (1%) HP:0002376
5 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
6 ophthalmoplegia 31 very rare (1%) HP:0000602
7 lethargy 31 very rare (1%) HP:0001254
8 bradykinesia 31 very rare (1%) HP:0002067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
lethargy
delayed gross motor development
more
Muscle Soft Tissue:
hypotonia
altered mitochondria with abnormal cristae seen on muscle biopsy

Head And Neck Mouth:
oromotor incoordination

Laboratory Abnormalities:
normal mitochondrial respiratory enzyme activity in patient fibroblasts
decreased atp production in patient fibroblasts

Respiratory:
respiratory insufficiency

Head And Neck Eyes:
ocular movement abnormalities
ophthalmoplegia (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy, transient (1 patient)

Clinical features from OMIM®:

618683 (Updated 05-Mar-2021)

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 6

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 6

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 6

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 6

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 6

Articles related to Mitochondrial Complex V Deficiency, Nuclear Type 6:

# Title Authors PMID Year
1
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. 57 6
29917077 2018

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 6

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP5MK NM_001206427.2(ATP5MK):c.87+1G>C SNV Pathogenic 694833 rs146599698 10:105152127-105152127 10:103392370-103392370
2 ATP5MK NM_001206427.2(ATP5MK):c.87+2dup Duplication Likely pathogenic 981119 10:105152125-105152126 10:103392368-103392369

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 6

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 6.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 6

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 6

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 6

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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