COXPD31
MCID: CMB076
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 31 (COXPD31)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 31

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 31:

Name: Combined Oxidative Phosphorylation Deficiency 31 58 76 6
Coxpd31 58 76
Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death may occur in first weeks to years of life
four unrelated families have been reported (last curated november 2016)


HPO:

33
combined oxidative phosphorylation deficiency 31:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 31

OMIM : 58 Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements. The disorder becomes apparent soon after birth or in early infancy, and patients may die in early childhood. Biochemical studies are consistent with a defect in mitochondrial function (summary by Eldomery et al., 2016). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617228)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 31, is also known as coxpd31. An important gene associated with Combined Oxidative Phosphorylation Deficiency 31 is MIPEP (Mitochondrial Intermediate Peptidase). Affiliated tissues include eye, and related phenotypes are cataract and microcephaly

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 31: An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 31

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 31

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 31:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 microcephaly 33 occasional (7.5%) HP:0000252
3 seizures 33 HP:0001250
4 failure to thrive 33 HP:0001508
5 global developmental delay 33 HP:0001263
6 hypertonia 33 HP:0001276
7 hypertrophic cardiomyopathy 33 HP:0001639
8 feeding difficulties 33 HP:0011968
9 increased serum lactate 33 HP:0002151
10 lactic acidosis 33 HP:0003128
11 generalized hypotonia 33 HP:0001290
12 hyperalaninemia 33 HP:0003348
13 left ventricular noncompaction 33 HP:0030682

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy
left ventricular noncompaction

Metabolic Features:
lactic acidosis

Head And Neck Eyes:
cataract (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
global developmental delay
hypertonia
dystonic posturing
seizures (in most patients)

Laboratory Abnormalities:
increased serum lactate
increased serum alanine

Muscle Soft Tissue:
hypotonia
mitochondrial proliferation
abnormal mitochondria
lipid droplet accumulation
accumulation of glycogen seen on muscle biopsy
more
Abdomen Gastrointestinal:
feeding problems

Head And Neck Face:
dysmorphic features, variable (in some patients)

Clinical features from OMIM:

617228

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 31

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 31

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 31

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 31

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 31:

42
Eye

Publications for Combined Oxidative Phosphorylation Deficiency 31

Variations for Combined Oxidative Phosphorylation Deficiency 31

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 31:

76
# Symbol AA change Variation ID SNP ID
1 MIPEP p.Leu71Gln VAR_078009 rs105751874
2 MIPEP p.Leu306Phe VAR_078010 rs143912947
3 MIPEP p.Lys343Glu VAR_078011 rs105751874

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 31:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh37 Chromosome 13, 24380192: 24380192
2 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh38 Chromosome 13, 23806053: 23806053
3 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh37 Chromosome 13, 24460623: 24460623
4 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh38 Chromosome 13, 23886484: 23886484
5 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh37 Chromosome 13, 24443458: 24443458
6 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh38 Chromosome 13, 23869319: 23869319
7 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh37 Chromosome 13, 24380133: 24380133
8 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh38 Chromosome 13, 23805994: 23805994
9 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh37 Chromosome 13, 24436467: 24436467
10 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh38 Chromosome 13, 23862328: 23862328
11 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh37 Chromosome 13, 24411700: 24411700
12 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh38 Chromosome 13, 23837561: 23837561
13 MIPEP NM_005932.3(MIPEP): c.485T> G (p.Leu162Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 24453461: 24453461
14 MIPEP NM_005932.3(MIPEP): c.485T> G (p.Leu162Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 23879322: 23879322
15 MIPEP NM_005932.3(MIPEP): c.358G> A (p.Asp120Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 24460477: 24460477
16 MIPEP NM_005932.3(MIPEP): c.358G> A (p.Asp120Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 23886338: 23886338
17 MIPEP NC_000013.11: g.23862543_23869499del6957 deletion Pathogenic GRCh37 Chromosome 13, 24436682: 24443638
18 MIPEP NC_000013.11: g.23862543_23869499del6957 deletion Pathogenic GRCh38 Chromosome 13, 23862543: 23869499
19 MIPEP NC_000013.11: g.23799617_23835311del35695 deletion Likely pathogenic GRCh38 Chromosome 13, 23799617: 23835311
20 MIPEP NC_000013.11: g.23799617_23835311del35695 deletion Likely pathogenic GRCh37 Chromosome 13, 24373720: 24409414
21 MIPEP NM_005932.3(MIPEP): c.1679G> A (p.Arg560His) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 24384038: 24384038
22 MIPEP NM_005932.3(MIPEP): c.1679G> A (p.Arg560His) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 23809899: 23809899

Expression for Combined Oxidative Phosphorylation Deficiency 31

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 31.

Pathways for Combined Oxidative Phosphorylation Deficiency 31

GO Terms for Combined Oxidative Phosphorylation Deficiency 31

Sources for Combined Oxidative Phosphorylation Deficiency 31

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
Content
Loading form....