COXPD31
MCID: CMB076
MIFTS: 24

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 57 12 72 29 6
Coxpd31 57 12 72
Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome 12 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


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) (Updated 05-Apr-2021)

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

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has material basis in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 microcephaly 31 occasional (7.5%) HP:0000252
3 failure to thrive 31 HP:0001508
4 global developmental delay 31 HP:0001263
5 hypertonia 31 HP:0001276
6 hypertrophic cardiomyopathy 31 HP:0001639
7 increased serum lactate 31 HP:0002151
8 lactic acidosis 31 HP:0003128
9 feeding difficulties 31 HP:0011968
10 generalized hypotonia 31 HP:0001290
11 hyperalaninemia 31 HP:0003348
12 seizure 31 HP:0001250
13 left ventricular noncompaction 31 HP:0030682

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 31:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 31 29 MIPEP

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 31

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

40
Eye

Publications for Combined Oxidative Phosphorylation Deficiency 31

Articles related to Combined Oxidative Phosphorylation Deficiency 31:

# Title Authors PMID Year
1
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 57 6
27799064 2016

Variations for Combined Oxidative Phosphorylation Deficiency 31

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 31:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIPEP NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) SNV Pathogenic 208628 rs1057518739 GRCh37: 13:24380192-24380192
GRCh38: 13:23806053-23806053
2 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) SNV Pathogenic 208631 rs114638163 GRCh37: 13:24380133-24380133
GRCh38: 13:23805994-23805994
3 MIPEP NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) SNV Pathogenic 208632 rs1057518741 GRCh37: 13:24436467-24436467
GRCh38: 13:23862328-23862328
4 MIPEP NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) SNV Pathogenic 208629 rs1057518740 GRCh37: 13:24460623-24460623
GRCh38: 13:23886484-23886484
5 MIPEP NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) SNV Pathogenic 208630 rs143912947 GRCh37: 13:24443458-24443458
GRCh38: 13:23869319-23869319
6 MIPEP Deletion Pathogenic 584431 GRCh37: 13:24436682-24443638
GRCh38: 13:23862543-23869499
7 MIPEP Deletion Likely pathogenic 584455 GRCh37: 13:24373720-24409414
GRCh38: 13:23799617-23835311
8 MIPEP NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) SNV Likely pathogenic 208633 rs779598020 GRCh37: 13:24411700-24411700
GRCh38: 13:23837561-23837561
9 MIPEP NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) SNV Likely pathogenic 584454 rs780533096 GRCh37: 13:24460477-24460477
GRCh38: 13:23886338-23886338
10 MIPEP NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) SNV Likely pathogenic 930107 GRCh37: 13:24449047-24449047
GRCh38: 13:23874908-23874908
11 MIPEP NM_005932.4(MIPEP):c.786+1G>C SNV Likely pathogenic 986338 GRCh37: 13:24444151-24444151
GRCh38: 13:23870012-23870012
12 MIPEP NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys) SNV Uncertain significance 931631 GRCh37: 13:24444334-24444334
GRCh38: 13:23870195-23870195
13 MIPEP NM_005932.4(MIPEP):c.1679G>A (p.Arg560His) SNV Uncertain significance 587593 rs753252850 GRCh37: 13:24384038-24384038
GRCh38: 13:23809899-23809899
14 MIPEP NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) SNV Uncertain significance 634482 rs139684349 GRCh37: 13:24384047-24384047
GRCh38: 13:23809908-23809908
15 MIPEP NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) SNV Uncertain significance 584430 rs768628283 GRCh37: 13:24453461-24453461
GRCh38: 13:23879322-23879322
16 MIPEP NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val) SNV Uncertain significance 1030037 GRCh37: 13:24433017-24433017
GRCh38: 13:23858878-23858878
17 MIPEP NM_005932.4(MIPEP):c.1090G>A (p.Val364Met) SNV Uncertain significance 1030038 GRCh37: 13:24433015-24433015
GRCh38: 13:23858876-23858876
18 MIPEP NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr) SNV Uncertain significance 1030039 GRCh37: 13:24384009-24384009
GRCh38: 13:23809870-23809870
19 PCOTH , MIPEP NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr) SNV Uncertain significance 1030040 GRCh37: 13:24463420-24463420
GRCh38: 13:23889281-23889281
20 MIPEP NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu) SNV Uncertain significance 1033046 GRCh37: 13:24436486-24436486
GRCh38: 13:23862347-23862347
21 MIPEP NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu) SNV Uncertain significance 1033047 GRCh37: 13:24411880-24411880
GRCh38: 13:23837741-23837741
22 MIPEP NM_005932.4(MIPEP):c.1526G>A (p.Arg509His) SNV Uncertain significance 1033048 GRCh37: 13:24411708-24411708
GRCh38: 13:23837569-23837569
23 MIPEP NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) SNV Uncertain significance 392943 rs150308123 GRCh37: 13:24304584-24304584
GRCh38: 13:23730445-23730445

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

72
# 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

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