COXPD6
MCID: CMB017
MIFTS: 27

Combined Oxidative Phosphorylation Deficiency 6 (COXPD6)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 6

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 6:

Name: Combined Oxidative Phosphorylation Deficiency 6 57 75 29 13 6 73
Coxpd6 57 75
Mitochondrial Encephalomyopathy Due to Combined Oxidative Phosphorylation Defect 6 59
Oxidative Phosphorylation Deficiency, Combined, Type 6 40
Severe X-Linked Mitochondrial Encephalomyopathy 59
Mitochondrial Encephalomyopathy Due to Coxpd6 59
Encephalomyopathy, Mitochondrial, X-Linked 57
Encephalomyopathy Mitochondrial X-Linked 75

Characteristics:

Orphanet epidemiological data:

59
severe x-linked mitochondrial encephalomyopathy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood;

OMIM:

57
Miscellaneous:
progressive disorder
onset in first year of life
two patients from 1 italian family have been reported (as of april 2010)

Inheritance:
x-linked recessive


HPO:

32
combined oxidative phosphorylation deficiency 6:
Onset and clinical course infantile onset progressive
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 6

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 6: A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 6, also known as coxpd6, is related to mitochondrial encephalomyopathy and deafness, x-linked 5, and has symptoms including seizures, muscle weakness and involuntary movements. An important gene associated with Combined Oxidative Phosphorylation Deficiency 6 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include skeletal muscle, brain and tongue, and related phenotypes are respiratory insufficiency and developmental regression

Description from OMIM: 300816

Related Diseases for Combined Oxidative Phosphorylation Deficiency 6

Diseases related to Combined Oxidative Phosphorylation Deficiency 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy 10.2
2 deafness, x-linked 5 9.7 AIFM1 RAB33A

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 6

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
tetraplegia
fasciculations
involuntary movements
hypotonia
more
Respiratory:
respiratory insufficiency due to muscle weakness

Laboratory Abnormalities:
increased lactate in serum and csf
increased pyruvate in serum and csf

Muscle Soft Tissue:
muscle weakness
muscle atrophy
mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy
decreased activity of multiple mitochondrial respiratory complex enzymes
ragged-red fibers
more
Neurologic Peripheral Nervous System:
sensory and motor axonal polyneuropathy


Clinical features from OMIM:

300816

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 6:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
2 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
3 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
4 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
5 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
8 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
9 sensory axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003390
10 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
11 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
12 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
13 hypokinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002375
14 increased connective tissue 59 32 frequent (33%) Frequent (79-30%) HP:0009025
15 severe muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006829
16 increased variability in muscle fiber diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0003557
17 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
18 increased serum pyruvate 59 32 frequent (33%) Frequent (79-30%) HP:0003542
19 increased csf lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002490
20 tongue fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0001308
21 seizures 32 HP:0001250
22 tetraplegia 32 HP:0002445
23 global developmental delay 32 HP:0001263
24 respiratory insufficiency due to muscle weakness 32 HP:0002747
25 peripheral neuropathy 59 Very frequent (99-80%)
26 ragged-red muscle fibers 32 HP:0003200
27 fasciculations 32 HP:0002380
28 involuntary movements 59 Frequent (79-30%)
29 hyporeflexia 32 HP:0001265
30 polyneuropathy 32 HP:0001271
31 central hypotonia 32 HP:0011398
32 abnormality of the basal ganglia 32 HP:0002134
33 abnormality of the striatum 59 Very frequent (99-80%)
34 abnormal corpus striatum morphology 32 hallmark (90%) HP:0010994

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 6:


seizures, muscle weakness, involuntary movements, muscular fasciculation

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 6

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 6

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 6

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 6:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 6 29 AIFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 6

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 6:

41
Skeletal Muscle, Brain, Tongue

Publications for Combined Oxidative Phosphorylation Deficiency 6

Articles related to Combined Oxidative Phosphorylation Deficiency 6:

# Title Authors Year
1
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. ( 20362274 )
2010

Variations for Combined Oxidative Phosphorylation Deficiency 6

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 6:

75
# Symbol AA change Variation ID SNP ID
1 AIFM1 p.Gly308Glu VAR_067334

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AIFM1 NM_004208.3(AIFM1): c.601_603delAGA (p.Arg201del) deletion Pathogenic rs387906500 GRCh37 Chromosome X, 129281470: 129281472
2 AIFM1 NM_004208.3(AIFM1): c.601_603delAGA (p.Arg201del) deletion Pathogenic rs387906500 GRCh38 Chromosome X, 130147495: 130147497
3 AIFM1 NM_004208.3(AIFM1): c.1436A> G (p.Gln479Arg) single nucleotide variant Pathogenic rs1057516211 GRCh37 Chromosome X, 129267300: 129267300
4 AIFM1 NM_004208.3(AIFM1): c.1436A> G (p.Gln479Arg) single nucleotide variant Pathogenic rs1057516211 GRCh38 Chromosome X, 130133325: 130133325

Expression for Combined Oxidative Phosphorylation Deficiency 6

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 6.

Pathways for Combined Oxidative Phosphorylation Deficiency 6

GO Terms for Combined Oxidative Phosphorylation Deficiency 6

Sources for Combined Oxidative Phosphorylation Deficiency 6

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
Content
Loading form....