COXPD19
MCID: CMB045
MIFTS: 23

Combined Oxidative Phosphorylation Deficiency 19 (COXPD19)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 19

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 19:

Name: Combined Oxidative Phosphorylation Deficiency 19 58 76 30 6 74
Coxpd19 58 76
Severe Neonatal Lactic Acidosis Due to Nfs1-Isd11 Complex Deficiency 60
Combined Oxidative Phosphorylation Deficiency, Type 19 41

Characteristics:

Orphanet epidemiological data:

60
severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated january 2014)
newborn period is critical for survival


HPO:

33
combined oxidative phosphorylation deficiency 19:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 19

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 19: A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 19, is also known as coxpd19, and has symptoms including respiratory distress An important gene associated with Combined Oxidative Phosphorylation Deficiency 19 is LYRM4 (LYR Motif Containing 4), and among its related pathways/superpathways is Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include liver, and related phenotypes are failure to thrive and neonatal hypotonia

Description from OMIM: 615595

Related Diseases for Combined Oxidative Phosphorylation Deficiency 19

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 19

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 19:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 neonatal hypotonia 33 HP:0001319
3 feeding difficulties 33 HP:0011968
4 respiratory distress 33 HP:0002098
5 hepatic steatosis 33 HP:0001397
6 lactic acidosis 33 HP:0003128

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Liver:
hepatic steatosis
decreased activities of mitochondrial complexes i, ii, and iii

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii
decreased levels of cellular and mitochondrial fes-containing proteins

Respiratory:
respiratory distress

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia, neonatal
abnormal mitochondria
decreased activities of mitochondrial complexes i, ii, and iii
lipid accumulation in muscle tissue

Clinical features from OMIM:

615595

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 19:


respiratory distress

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 19

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 19

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 19

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 19:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 19 30 LYRM4

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 19

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 19:

42
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 19

Variations for Combined Oxidative Phosphorylation Deficiency 19

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 19:

76
# Symbol AA change Variation ID SNP ID
1 LYRM4 p.Arg68Leu VAR_070943 rs587777218

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LYRM4 NM_020408.5(LYRM4): c.203G> T (p.Arg68Leu) single nucleotide variant Pathogenic rs587777218 GRCh37 Chromosome 6, 5216855: 5216855
2 LYRM4 NM_020408.5(LYRM4): c.203G> T (p.Arg68Leu) single nucleotide variant Pathogenic rs587777218 GRCh38 Chromosome 6, 5216622: 5216622
3 LYRM4 NM_001164840.2(LYRM4): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs1301142742 GRCh37 Chromosome 6, 5260960: 5260960
4 LYRM4 NM_001164840.2(LYRM4): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs1301142742 GRCh38 Chromosome 6, 5260727: 5260727

Expression for Combined Oxidative Phosphorylation Deficiency 19

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 19.

Pathways for Combined Oxidative Phosphorylation Deficiency 19

Pathways related to Combined Oxidative Phosphorylation Deficiency 19 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.58 LYRM4 NFS1

GO Terms for Combined Oxidative Phosphorylation Deficiency 19

Cellular components related to Combined Oxidative Phosphorylation Deficiency 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 FARS2 LYRM4 NFS1
2 mitochondrial matrix GO:0005759 8.8 FARS2 LYRM4 NFS1

Biological processes related to Combined Oxidative Phosphorylation Deficiency 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small molecule metabolic process GO:0044281 8.62 LYRM4 NFS1

Sources for Combined Oxidative Phosphorylation Deficiency 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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