COXPD44
MCID: CMB100
MIFTS: 24

Combined Oxidative Phosphorylation Deficiency 44 (COXPD44)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 44

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 44:

Name: Combined Oxidative Phosphorylation Deficiency 44 57 72 29 6
Coxpd44 57 72
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 58

Characteristics:

Orphanet epidemiological data:

58
fastkd2-related infantile mitochondrial encephalomyopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
later onset has been reported in 1 patient
variable manifestations and severity


HPO:

31
combined oxidative phosphorylation deficiency 44:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 618855
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 G71.3
Orphanet 58 ORPHA166105

Summaries for Combined Oxidative Phosphorylation Deficiency 44

OMIM® : 57 Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder with multisystemic manifestations. Most affected individuals present in infancy or early childhood with global developmental delay, hypotonia, and abnormal movements. Most patients develop seizures, often associated with status epilepticus, and some patients may have optic atrophy. One patient with hypertrophic cardiomyopathy has been reported. Serum lactate may be increased, although that finding is inconsistent. Detailed biochemical analysis shows variable combined deficiencies of mitochondrial oxidative complexes that appear to be tissue-specific (summary by Wei et al., 2020). For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618855) (Updated 05-Apr-2021)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 44, is also known as coxpd44. An important gene associated with Combined Oxidative Phosphorylation Deficiency 44 is FASTKD2 (FAST Kinase Domains 2). Affiliated tissues include skeletal muscle and brain, and related phenotypes are nystagmus and global developmental delay

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 44: An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 44

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 44

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 44:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 global developmental delay 31 very rare (1%) HP:0001263
3 dyskinesia 31 very rare (1%) HP:0100660
4 slurred speech 31 very rare (1%) HP:0001350
5 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
6 increased serum lactate 31 very rare (1%) HP:0002151
7 cerebral atrophy 31 very rare (1%) HP:0002059
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 hyporeflexia of lower limbs 31 very rare (1%) HP:0002600
10 seizure 31 very rare (1%) HP:0001250
11 abnormal basal ganglia mri signal intensity 31 HP:0012751
12 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
developmental regression
dyskinesia
dystonia
more
Muscle Soft Tissue:
hypotonia
combined oxidative phosphorylation deficiency in skeletal muscle

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

Laboratory Abnormalities:
increased serum and csf lactate (in some patients)
combined oxidative phosphorylation deficiency, tissue-dependent

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
strabismus (in some patients)

Abdomen Gastrointestinal:
poor feeding (in some patients)

Clinical features from OMIM®:

618855 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 44

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 44

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 44

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 44:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 44 29 FASTKD2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 44

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 44:

40
Skeletal Muscle, Brain

Publications for Combined Oxidative Phosphorylation Deficiency 44

Articles related to Combined Oxidative Phosphorylation Deficiency 44:

# Title Authors PMID Year
1
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. 6 57
31944455 2020
2
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. 6 57
28499982 2017
3
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 6 57
18771761 2008

Variations for Combined Oxidative Phosphorylation Deficiency 44

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FASTKD2 NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) SNV Pathogenic 641 rs118203917 GRCh37: 2:207638988-207638988
GRCh38: 2:206774264-206774264
2 FASTKD2 NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter) SNV Pathogenic 870460 GRCh37: 2:207632030-207632030
GRCh38: 2:206767306-206767306
3 FASTKD2 NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro) SNV Pathogenic 870461 GRCh37: 2:207632181-207632181
GRCh38: 2:206767457-206767457
4 FASTKD2 NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) SNV Pathogenic 800308 rs778120270 GRCh37: 2:207634905-207634905
GRCh38: 2:206770181-206770181
5 FASTKD2 NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) Deletion Pathogenic 800306 rs1574675683 GRCh37: 2:207653588-207653588
GRCh38: 2:206788864-206788864
6 FASTKD2 NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) Duplication Pathogenic 800307 rs1574663066 GRCh37: 2:207634845-207634846
GRCh38: 2:206770121-206770122
7 FASTKD2 NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) SNV Benign 374694 rs536180346 GRCh37: 2:207631493-207631493
GRCh38: 2:206766769-206766769

Expression for Combined Oxidative Phosphorylation Deficiency 44

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 44.

Pathways for Combined Oxidative Phosphorylation Deficiency 44

GO Terms for Combined Oxidative Phosphorylation Deficiency 44

Sources for Combined Oxidative Phosphorylation Deficiency 44

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