COXPD44
MCID: CMB100
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 44 (COXPD44)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 44

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 44:

Name: Combined Oxidative Phosphorylation Deficiency 44 56 6
Coxpd44 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618855
OMIM Phenotypic Series 56 PS609060

Summaries for Combined Oxidative Phosphorylation Deficiency 44

OMIM : 56 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)

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 brain and skeletal muscle.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 44

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 44

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dyskinesia
developmental regression
spasticity
dysarthria
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

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

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 44

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

40
Brain, Skeletal Muscle

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. 56 6
31944455 2020
2
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. 56 6
28499982 2017
3
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 56 6
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 GRCh37 Pos GRCh38 Pos
1 FASTKD2 NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)duplication Pathogenic 800307 2:207634845-207634846 2:206770121-206770122
2 FASTKD2 NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)SNV Pathogenic 800308 2:207634905-207634905 2:206770181-206770181
3 FASTKD2 NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)deletion Pathogenic 800306 2:207653588-207653588 2:206788864-206788864
4 FASTKD2 NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter)SNV Pathogenic 870460 2:207632030-207632030 2:206767306-206767306
5 FASTKD2 NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro)SNV Pathogenic 870461 2:207632181-207632181 2:206767457-206767457
6 FASTKD2 NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)SNV Pathogenic 641 rs118203917 2:207638988-207638988 2:206774264-206774264

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
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10 dbSNP
11 DGIdb
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18 ExPASy
19 FMA
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30 HMDB
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32 ICD10
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43 MeSH
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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