COXPD40
MCID: CMB096
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 40 (COXPD40)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 40

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 40:

Name: Combined Oxidative Phosphorylation Deficiency 40 56 6
Coxpd40 56

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset in utero or at birth

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618835
OMIM Phenotypic Series 56 PS609060

Summaries for Combined Oxidative Phosphorylation Deficiency 40

OMIM : 56 Combined oxidative phosphorylation deficiency-40 (COXPD40) is an autosomal recessive mitochondrial disorder with onset in utero or soon after birth. Affected individuals have severe hypertrophic cardiomyopathy, poor growth, and sensorineural hearing loss. Laboratory studies show evidence of mitochondrial dysfunction, such as lactic acidosis. Patient-derived tissues and cells show variably decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with no reported patients surviving past infancy (summary by Friederich et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618835)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 40, is also known as coxpd40. An important gene associated with Combined Oxidative Phosphorylation Deficiency 40 is QRSL1 (Glutaminyl-TRNA Amidotransferase Subunit QRSL1). Affiliated tissues include liver, brain and globus pallidus.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 40

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 40

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic steatosis
abnormal liver enzymes
enlarged mitochondria

Cardiovascular Heart:
hypertrophic cardiomyopathy

Hematology:
anemia
coagulation defects due to liver dysfunction

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
ketonuria
increased serum creatine kinase
increased serum glutamine
increased serum alanine
mitochondrial respiratory enzyme deficiency, combined, i, iii, iv, v, in various tissues
more
Head And Neck Ears:
hearing loss, sensorineural

Prenatal Manifestations:
fetal hydrops

Growth Other:
failure to thrive
poor growth

Metabolic Features:
hypoglycemia
lactic acidosis

Muscle Soft Tissue:
ascites

Neurologic Central Nervous System:
encephalopathy
delayed myelination
hypotonia
leigh syndrome (in some patients)
lack of development
more
Prenatal Manifestations Delivery:
premature delivery

Abdomen Gastrointestinal:
poor feeding
weak sucking

Clinical features from OMIM:

618835

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 40

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 40

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 40

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 40

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 40:

40
Liver, Brain, Globus Pallidus

Publications for Combined Oxidative Phosphorylation Deficiency 40

Articles related to Combined Oxidative Phosphorylation Deficiency 40:

# Title Authors PMID Year
1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 6 56
30283131 2018
2
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 6 56
29440775 2018
3
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 56 6
26741492 2016

Variations for Combined Oxidative Phosphorylation Deficiency 40

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 40:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 QRSL1 NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)SNV Pathogenic 559414 rs1562168768 6:107096917-107096917 6:106649042-106649042
2 QRSL1 NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)SNV Pathogenic 559413 rs763443331 6:107097074-107097074 6:106649199-106649199
3 QRSL1 NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)indel Pathogenic 559416 rs1562173313 6:107110973-107110974 6:106663098-106663099
4 QRSL1 NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)SNV Pathogenic 834718 6:107090935-107090935 6:106643060-106643060
5 QRSL1 NM_018292.5(QRSL1):c.850-3A>GSNV Pathogenic 834719 6:107102602-107102602 6:106654727-106654727

Expression for Combined Oxidative Phosphorylation Deficiency 40

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 40.

Pathways for Combined Oxidative Phosphorylation Deficiency 40

GO Terms for Combined Oxidative Phosphorylation Deficiency 40

Sources for Combined Oxidative Phosphorylation Deficiency 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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