COXPD19
MCID: CMB045
MIFTS: 32

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 57 12 72 29 6 15 70
Coxpd19 57 12 72
Severe Neonatal Lactic Acidosis Due to Nfs1-Isd11 Complex Deficiency 12 58
Combined Oxidative Phosphorylation Deficiency, Type 19 39

Characteristics:

Orphanet epidemiological data:

58
severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 19:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111476
OMIM® 57 615595
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA397593
UMLS 70 C3810055

Summaries for Combined Oxidative Phosphorylation Deficiency 19

UniProtKB/Swiss-Prot : 72 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, also known as coxpd19, is related to autosomal recessive cerebellar ataxia and lipoic acid biosynthesis defects, 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

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1.

More information from OMIM: 615595 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 19

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 19:



Diseases related to Combined Oxidative Phosphorylation Deficiency 19

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 19

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 19:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 neonatal hypotonia 31 HP:0001319
3 hepatic steatosis 31 HP:0001397
4 lactic acidosis 31 HP:0003128
5 feeding difficulties 31 HP:0011968
6 respiratory distress 31 HP:0002098

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

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

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

Respiratory:
respiratory distress

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 (Updated 20-May-2021)

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 29 LYRM4

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 19

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

40
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 19

Articles related to Combined Oxidative Phosphorylation Deficiency 19:

# Title Authors PMID Year
1
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. 57 6
23814038 2013
2
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. 61
28064324 2017
3
Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19. 61
26342079 2015

Variations for Combined Oxidative Phosphorylation Deficiency 19

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LYRM4 , LYRM4-AS1 NM_020408.5(LYRM4):c.203G>T (p.Arg68Leu) SNV Pathogenic 102450 rs587777218 GRCh37: 6:5216855-5216855
GRCh38: 6:5216622-5216622
2 LYRM4 NM_001164840.2(LYRM4):c.7G>A (p.Ala3Thr) SNV Uncertain significance 547901 rs1301142742 GRCh37: 6:5260960-5260960
GRCh38: 6:5260727-5260727
3 LYRM4 , LYRM4-AS1 NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) SNV Uncertain significance 1028165 GRCh37: 6:5216886-5216886
GRCh38: 6:5216653-5216653

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

72
# Symbol AA change Variation ID SNP ID
1 LYRM4 p.Arg68Leu VAR_070943 rs587777218

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 9.88 NFS1 LYRM4 ISCU FDX2

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 9.73 NUBPL NFS1 LYRM7 LYRM4 ISCU ISCA2
2 mitochondrial matrix GO:0005759 9.28 NUBPL NFS1 LYRM7 LYRM4 ISCU ISCA2

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 9.43 NFS1 LYRM4 ISCU ISCA2 GLRX5 FDX2
2 [2Fe-2S] cluster assembly GO:0044571 9.33 NFS1 HSCB GLRX5
3 protein maturation by iron-sulfur cluster transfer GO:0097428 9.32 ISCA2 HSCB
4 protein maturation by [4Fe-4S] cluster transfer GO:0106035 9.26 ISCA2 GLRX5
5 iron-sulfur cluster assembly GO:0016226 9.17 NUBPL NFS1 LYRM4 ISCU ISCA2 IBA57

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

# Name GO ID Score Top Affiliating Genes
1 4 iron, 4 sulfur cluster binding GO:0051539 9.33 NUBPL ISCU ISCA2
2 2 iron, 2 sulfur cluster binding GO:0051537 9.26 ISCU ISCA2 GLRX5 FDX2
3 iron-sulfur cluster binding GO:0051536 9.1 NUBPL NFS1 ISCU ISCA2 GLRX5 FDX2

Sources for Combined Oxidative Phosphorylation Deficiency 19

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