COXPD18
MCID: CMB047
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 18 (COXPD18)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 18

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 18:

Name: Combined Oxidative Phosphorylation Deficiency 18 58 76 30 6 74
Coxpd18 58 76
Growth and Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome 60
Combined Oxidative Phosphorylation Deficiency, Type 18 41

Characteristics:

Orphanet epidemiological data:

60
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
two unrelated patients have been reported (last curated december 2013)


HPO:

33
combined oxidative phosphorylation deficiency 18:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 18

OMIM : 58 Combined oxidative phosphorylation deficiency-18 is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (615578)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 18, is also known as coxpd18, and has symptoms including tremor An important gene associated with Combined Oxidative Phosphorylation Deficiency 18 is SFXN4 (Sideroflexin 4). Affiliated tissues include skeletal muscle, neutrophil and eye, and related phenotypes are macrocytic anemia and tremor

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 18: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 18

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 18

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 18:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocytic anemia 33 occasional (7.5%) HP:0001972
2 tremor 33 HP:0001337
3 delayed speech and language development 33 HP:0000750
4 visual impairment 33 HP:0000505
5 intellectual disability, mild 33 HP:0001256
6 skeletal muscle atrophy 33 HP:0003202
7 intrauterine growth retardation 33 HP:0001511
8 dysmetria 33 HP:0001310
9 increased serum lactate 33 HP:0002151
10 lactic acidosis 33 HP:0003128
11 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
tremor
intellectual disability, mild
dysmetria
language delay
defects in fine motor skills

Growth Other:
intrauterine growth retardation
poor postnatal growth

Metabolic Features:
lactic acidosis

Hematology:
macrocytic anemia (1 patient)
hypersegmented neutrophils (1 patient)
variable red blood cell size

Head And Neck Eyes:
visual impairment
delayed visual-evoked potential

Laboratory Abnormalities:
increased serum lactate
increased serum ammonia
mitochondrial complex i deficiency in muscle
fibroblasts show global defects in multiple mitochondrial respiratory chain activities

Muscle Soft Tissue:
hypotonia
muscle atrophy
lipid accumulation
increased mitochondria seen on muscle biopsy

Clinical features from OMIM:

615578

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 18:


tremor

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 18

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 18

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 18

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 18:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 18 30 SFXN4

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 18

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 18:

42
Skeletal Muscle, Neutrophil, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 18

Articles related to Combined Oxidative Phosphorylation Deficiency 18:

# Title Authors Year
1
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. ( 24119684 )
2013

Variations for Combined Oxidative Phosphorylation Deficiency 18

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SFXN4 NM_213649.1(SFXN4): c.233delC (p.Pro78Leufs) deletion Pathogenic rs398124642 GRCh37 Chromosome 10, 120921871: 120921871
2 SFXN4 NM_213649.1(SFXN4): c.233delC (p.Pro78Leufs) deletion Pathogenic rs398124642 GRCh38 Chromosome 10, 119162359: 119162359
3 SFXN4 NM_213649.1(SFXN4): c.739dup (p.Arg247Lysfs) duplication Pathogenic rs1554886159 GRCh37 Chromosome 10, 120907366: 120907366
4 SFXN4 NM_213649.1(SFXN4): c.739dup (p.Arg247Lysfs) duplication Pathogenic rs1554886159 GRCh38 Chromosome 10, 119147854: 119147854
5 SFXN4 NM_213649.1(SFXN4): c.471+1G> A single nucleotide variant Pathogenic rs367932369 GRCh37 Chromosome 10, 120917382: 120917382
6 SFXN4 NM_213649.1(SFXN4): c.471+1G> A single nucleotide variant Pathogenic rs367932369 GRCh38 Chromosome 10, 119157870: 119157870
7 SFXN4 NM_213649.1(SFXN4): c.414+1G> A single nucleotide variant Pathogenic rs1380193482 GRCh37 Chromosome 10, 120917520: 120917520
8 SFXN4 NM_213649.1(SFXN4): c.414+1G> A single nucleotide variant Pathogenic rs1380193482 GRCh38 Chromosome 10, 119158008: 119158008

Expression for Combined Oxidative Phosphorylation Deficiency 18

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 18.

Pathways for Combined Oxidative Phosphorylation Deficiency 18

GO Terms for Combined Oxidative Phosphorylation Deficiency 18

Sources for Combined Oxidative Phosphorylation Deficiency 18

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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