COXPD6
MCID: CMB017
MIFTS: 26

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 58 76 30 13 6 74
Coxpd6 58 76
Mitochondrial Encephalomyopathy Due to Combined Oxidative Phosphorylation Defect 6 60
Oxidative Phosphorylation Deficiency, Combined, Type 6 41
Severe X-Linked Mitochondrial Encephalomyopathy 60
Mitochondrial Encephalomyopathy Due to Coxpd6 60
Encephalomyopathy, Mitochondrial, X-Linked 58
Encephalomyopathy Mitochondrial X-Linked 76

Characteristics:

Orphanet epidemiological data:

60
severe x-linked mitochondrial encephalomyopathy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood;

OMIM:

58
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:

33
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 : 76 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, tongue and brain, and related phenotypes are delayed speech and language development and generalized muscle weakness

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 10.1
2 deafness, x-linked 5 9.5 AIFM1 RAB33A

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 6

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 6:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
3 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
4 sensory axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003390
5 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
6 moderate global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011343
7 severe muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006829
8 increased variability in muscle fiber diameter 60 33 hallmark (90%) Very frequent (99-80%) HP:0003557
9 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
10 abnormal corpus striatum morphology 33 hallmark (90%) HP:0010994
11 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
12 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
13 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
14 respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0002098
15 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
16 hypokinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002375
17 increased connective tissue 60 33 frequent (33%) Frequent (79-30%) HP:0009025
18 increased serum pyruvate 60 33 frequent (33%) Frequent (79-30%) HP:0003542
19 increased csf lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002490
20 tongue fasciculations 60 33 frequent (33%) Frequent (79-30%) HP:0001308
21 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
22 seizures 33 HP:0001250
23 tetraplegia 33 HP:0002445
24 global developmental delay 33 HP:0001263
25 respiratory insufficiency due to muscle weakness 33 HP:0002747
26 peripheral neuropathy 60 Very frequent (99-80%)
27 ragged-red muscle fibers 33 HP:0003200
28 fasciculations 33 HP:0002380
29 involuntary movements 60 Frequent (79-30%)
30 hyporeflexia 33 HP:0001265
31 polyneuropathy 33 HP:0001271
32 central hypotonia 33 HP:0011398
33 abnormality of the basal ganglia 33 HP:0002134
34 abnormality of the striatum 60 Very frequent (99-80%)
35 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
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

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 30 AIFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 6

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

42
Skeletal Muscle, Tongue, Brain

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:

76
# 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.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs752742151 GRCh37 Chromosome X, 129281749: 129281749
4 AIFM1 NM_004208.3(AIFM1): c.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs752742151 GRCh38 Chromosome X, 130147774: 130147774
5 AIFM1 NM_004208.3(AIFM1): c.1436A> G (p.Gln479Arg) single nucleotide variant Pathogenic rs1057516211 GRCh37 Chromosome X, 129267300: 129267300
6 AIFM1 NM_004208.3(AIFM1): c.1436A> G (p.Gln479Arg) single nucleotide variant Pathogenic rs1057516211 GRCh38 Chromosome X, 130133325: 130133325
7 AIFM1 NM_004208.3(AIFM1): c.170C> G (p.Ser57Cys) single nucleotide variant Uncertain significance rs201711375 GRCh37 Chromosome X, 129290514: 129290514
8 AIFM1 NM_004208.3(AIFM1): c.170C> G (p.Ser57Cys) single nucleotide variant Uncertain significance rs201711375 GRCh38 Chromosome X, 130156540: 130156540

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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