MCID: CMB076
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 31

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic 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 57 75 6
Coxpd31 57 75
Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
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:

32
combined oxidative phosphorylation deficiency 31:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 31

OMIM : 57 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 microcephaly and cataract

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 31:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 cataract 32 occasional (7.5%) HP:0000518
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 generalized hypotonia 32 HP:0001290
7 failure to thrive 32 HP:0001508
8 hypertrophic cardiomyopathy 32 HP:0001639
9 increased serum lactate 32 HP:0002151
10 lactic acidosis 32 HP:0003128
11 hyperalaninemia 32 HP:0003348
12 feeding difficulties 32 HP:0011968
13 left ventricular noncompaction 32 HP:0030682

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:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 MIPEP p.Leu71Gln VAR_078009 rs1057518740Combined
2 MIPEP p.Leu306Phe VAR_078010 rs143912947
3 MIPEP p.Lys343Glu VAR_078011 rs1057518741Combined

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 31:

6
(show all 12)
# 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

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

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74 UMLS via Orphanet
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