COXPD18
MCID: CMB047
MIFTS: 22

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 57 74 29 6 72
Coxpd18 57 74
Growth and Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome 59
Combined Oxidative Phosphorylation Deficiency, Type 18 40

Characteristics:

Orphanet epidemiological data:

59
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

MeSH 44 D028361
ICD10 via Orphanet 34 E88.8
Orphanet 59 ORPHA391348
UMLS 72 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)

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

UniProtKB/Swiss-Prot : 74 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocytic anemia 32 occasional (7.5%) HP:0001972
2 tremor 32 HP:0001337
3 delayed speech and language development 32 HP:0000750
4 visual impairment 32 HP:0000505
5 intellectual disability, mild 32 HP:0001256
6 skeletal muscle atrophy 32 HP:0003202
7 generalized hypotonia 32 HP:0001290
8 intrauterine growth retardation 32 HP:0001511
9 dysmetria 32 HP:0001310
10 increased serum lactate 32 HP:0002151
11 lactic acidosis 32 HP:0003128

Symptoms via clinical synopsis from OMIM:

57
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 29 SFXN4

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 18

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

41
Neutrophil, 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. 8 71
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 GRCh37 Pos GRCh38 Pos
1 SFXN4 NM_213649.2(SFXN4): c.414+1G> A single nucleotide variant Pathogenic rs1380193482 10:120917520-120917520 10:119158008-119158008
2 SFXN4 NM_213649.2(SFXN4): c.233del (p.Pro78fs) deletion Pathogenic rs398124642 10:120921871-120921871 10:119162359-119162359
3 SFXN4 NM_213649.2(SFXN4): c.739dup (p.Arg247fs) duplication Pathogenic rs1554886159 10:120907366-120907366 10:119147854-119147854
4 SFXN4 NM_213649.2(SFXN4): c.471+1G> A single nucleotide variant Pathogenic rs367932369 10:120917382-120917382 10:119157870-119157870
5 SFXN4 NM_213649.2(SFXN4): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic 10:120900828-120900828 10:119141316-119141316

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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