COXPD41
MCID: CMB097
MIFTS: 12

Combined Oxidative Phosphorylation Deficiency 41 (COXPD41)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 41

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 41:

Name: Combined Oxidative Phosphorylation Deficiency 41 56 6
Coxpd41 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in the perinatal period
one family has been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618838
OMIM Phenotypic Series 56 PS609060

Summaries for Combined Oxidative Phosphorylation Deficiency 41

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 41, is also known as coxpd41. An important gene associated with Combined Oxidative Phosphorylation Deficiency 41 is GATB (Glutamyl-TRNA Amidotransferase Subunit B). Affiliated tissues include heart.

More information from OMIM: 618838 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 41

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 41

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Metabolic Features:
hypoglycemia
lactic acidosis

Muscle Soft Tissue:
ascites
fetal hydrops

Respiratory:
respiratory insufficiency

Prenatal Manifestations Delivery:
premature delivery

Prenatal Manifestations:
fetal hydrops

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
pericardial effusion
bradycardia
heart failure

Hematology:
anemia

Growth Other:
intrauterine growth retardation

Cardiovascular Vascular:
pulmonary hypertension

Neurologic Central Nervous System:
abnormal eeg

Laboratory Abnormalities:
mitochondrial respiratory enzyme deficiency, combined, i, iii, iv, v, in various tissue

Clinical features from OMIM:

618838

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 41

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 41

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 41

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 41

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 41:

40
Heart

Publications for Combined Oxidative Phosphorylation Deficiency 41

Articles related to Combined Oxidative Phosphorylation Deficiency 41:

# Title Authors PMID Year
1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 6 56
30283131 2018

Variations for Combined Oxidative Phosphorylation Deficiency 41

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 41:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATB NM_004564.3(GATB):c.580_581del (p.Ser194fs)deletion Pathogenic 559411 rs565910322 4:152638087-152638088 4:151716935-151716936
2 GATB NM_004564.3(GATB):c.408T>G (p.Phe136Leu)SNV Pathogenic 559412 rs376766195 4:152640610-152640610 4:151719458-151719458

Expression for Combined Oxidative Phosphorylation Deficiency 41

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 41.

Pathways for Combined Oxidative Phosphorylation Deficiency 41

GO Terms for Combined Oxidative Phosphorylation Deficiency 41

Sources for Combined Oxidative Phosphorylation Deficiency 41

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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