COXPD18
MCID: CMB047
MIFTS: 24

Combined Oxidative Phosphorylation Deficiency 18 (COXPD18)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 18

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 18:

Name: Combined Oxidative Phosphorylation Deficiency 18 57 12 72 29 6 70
Coxpd18 57 12 72
Growth and Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome 12 58
Combined Oxidative Phosphorylation Deficiency, Type 18 39

Characteristics:

Orphanet epidemiological data:

58
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111484
OMIM® 57 615578
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA391348
UMLS 70 C3810001

Summaries for Combined Oxidative Phosphorylation Deficiency 18

OMIM® : 57 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) (Updated 20-May-2021)

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 eye and skeletal muscle, and related phenotypes are macrocytic anemia and tremor

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has material basis in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocytic anemia 31 occasional (7.5%) HP:0001972
2 tremor 31 HP:0001337
3 delayed speech and language development 31 HP:0000750
4 visual impairment 31 HP:0000505
5 intellectual disability, mild 31 HP:0001256
6 skeletal muscle atrophy 31 HP:0003202
7 intrauterine growth retardation 31 HP:0001511
8 increased serum lactate 31 HP:0002151
9 dysmetria 31 HP:0001310
10 lactic acidosis 31 HP:0003128
11 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 SFXN4

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 18

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

40
Eye, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 18

Articles related to Combined Oxidative Phosphorylation Deficiency 18:

# Title Authors PMID Year
1
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. 6 57
24119684 2013

Variations for Combined Oxidative Phosphorylation Deficiency 18

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SFXN4 NM_213649.2(SFXN4):c.233del (p.Pro78fs) Deletion Pathogenic 92098 rs398124642 GRCh37: 10:120921871-120921871
GRCh38: 10:119162359-119162359
2 SFXN4 NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) SNV Pathogenic 638327 rs1156283736 GRCh37: 10:120900828-120900828
GRCh38: 10:119141316-119141316
3 SFXN4 NM_213649.2(SFXN4):c.930del (p.Ile310fs) Deletion Pathogenic 689787 rs1589625048 GRCh37: 10:120905754-120905754
GRCh38: 10:119146242-119146242
4 SFXN4 NM_213649.2(SFXN4):c.739dup (p.Arg247fs) Duplication Pathogenic 92099 rs1554886159 GRCh37: 10:120907365-120907366
GRCh38: 10:119147853-119147854
5 SFXN4 NM_213649.2(SFXN4):c.471+1G>A SNV Pathogenic 92100 rs367932369 GRCh37: 10:120917382-120917382
GRCh38: 10:119157870-119157870
6 SFXN4 NM_213649.2(SFXN4):c.414+1G>A SNV Pathogenic 488593 rs1380193482 GRCh37: 10:120917520-120917520
GRCh38: 10:119158008-119158008
7 SFXN4 NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) SNV Likely pathogenic 985738 GRCh37: 10:120914657-120914657
GRCh38: 10:119155145-119155145
8 SFXN4 NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 806576 rs377410779 GRCh37: 10:120917525-120917525
GRCh38: 10:119158013-119158013

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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