COXPD11
MCID: CMB046
MIFTS: 26

Combined Oxidative Phosphorylation Deficiency 11 (COXPD11)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 11

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 11:

Name: Combined Oxidative Phosphorylation Deficiency 11 58 76 30 13 6 74
Coxpd11 58 60 76
Encephaloneuromyopathy, Infantile, Due to Mitochondrial Translation Defect 58
Infantile Encephaloneuromyopathy Due to Mitochondrial Translation Defect 76
Combined Oxidative Phosphorylation Deficiency, Type 11 41
Combined Oxidative Phosphorylation Defect Type 11 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 11
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
early death (in some patients)
onset at birth or early infancy


HPO:

33
combined oxidative phosphorylation deficiency 11:
Clinical modifier death in infancy
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 11

OMIM : 58 COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (614922)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 11, is also known as coxpd11, and has symptoms including seizures and lethargy. An important gene associated with Combined Oxidative Phosphorylation Deficiency 11 is RMND1 (Required For Meiotic Nuclear Division 1 Homolog). Affiliated tissues include kidney, liver and tongue, and related phenotypes are hepatomegaly and peripheral neuropathy

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 11: A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 11

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 11

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 11:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 occasional (7.5%) HP:0002240
2 peripheral neuropathy 33 occasional (7.5%) HP:0009830
3 myoclonus 33 occasional (7.5%) HP:0001336
4 cardiomyopathy 33 occasional (7.5%) HP:0001638
5 tongue fasciculations 33 occasional (7.5%) HP:0001308
6 seizures 33 HP:0001250
7 hearing impairment 33 HP:0000365
8 global developmental delay 33 HP:0001263
9 renal insufficiency 33 HP:0000083
10 myopathy 33 HP:0003198
11 decreased liver function 33 HP:0001410
12 feeding difficulties 33 HP:0011968
13 absent speech 33 HP:0001344
14 hepatic steatosis 33 HP:0001397
15 cerebral cortical atrophy 33 HP:0002120
16 increased serum lactate 33 HP:0002151
17 lactic acidosis 33 HP:0003128
18 renal hypoplasia 33 HP:0000089
19 areflexia 33 HP:0001284
20 hyporeflexia 33 HP:0001265
21 lethargy 33 HP:0001254
22 pachygyria 33 HP:0001302
23 severe muscular hypotonia 33 HP:0006829
24 generalized hypotonia 33 HP:0001290
25 hypoplasia of the corpus callosum 33 HP:0002079
26 renal cyst 33 HP:0000107
27 cns hypomyelination 33 HP:0003429
28 renal tubular acidosis 33 HP:0001947
29 renal dysplasia 33 HP:0000110
30 increased csf lactate 33 HP:0002490
31 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
lethargy
pachygyria
delayed myelination
hypomyelination
more
Muscle Soft Tissue:
myopathy
hypotonia
deficiency of mitochondrial respiratory enzymes i, iii, iv, and v

Metabolic Features:
lactic acidosis

Genitourinary Kidneys:
renal tubular acidosis
renal failure
hypoplastic kidneys
dysplastic kidneys
cystic kidneys
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Mouth:
tongue fasciculations (rare)

Skeletal Feet:
equinus foot deformities

Abdomen Liver:
hepatomegaly
steatosis
liver dysfunction

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
sural nerve biopsy shows lack of myelinated fibers (rare)
peripheral neuropathy (rare)

Head And Neck Ears:
deafness

Cardiovascular Heart:
cardiomyopathy (in some patients)

Respiratory:
respiratory insufficiency requiring mechanical ventilation (in 1 family)

Clinical features from OMIM:

614922

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 11:


seizures, lethargy

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 11

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 11

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 11

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 11:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 11 30 RMND1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 11

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 11:

42
Kidney, Liver, Tongue, Spinal Cord

Publications for Combined Oxidative Phosphorylation Deficiency 11

Articles related to Combined Oxidative Phosphorylation Deficiency 11:

# Title Authors Year
1
Hearing impairment and renal failure associated with RMND1 mutations. ( 26395190 )
2016
2
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. ( 25604853 )
2015
3
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. ( 25058219 )
2014
4
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. ( 23022099 )
2012
5
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. ( 23022098 )
2012
6
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis. ( 18835491 )
2008

Variations for Combined Oxidative Phosphorylation Deficiency 11

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 11:

76
# Symbol AA change Variation ID SNP ID
1 RMND1 p.Arg417Gln VAR_069036 rs397515421

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 11:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RMND1 NM_017909.4(RMND1): c.504+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 151445307: 151445307
2 RMND1 NM_017909.4(RMND1): c.504+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 151766442: 151766442
3 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
4 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh38 Chromosome 6, 151405787: 151405787
5 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
6 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh38 Chromosome 6, 151405236: 151405236
7 RMND1 NM_017909.3(RMND1): c.713A> G (p.Asn238Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144972972 GRCh38 Chromosome 6, 151430154: 151430154
8 RMND1 NM_017909.3(RMND1): c.713A> G (p.Asn238Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144972972 GRCh37 Chromosome 6, 151751289: 151751289
9 RMND1 NM_017909.3(RMND1): c.613G> T (p.Asp205Tyr) single nucleotide variant Pathogenic rs606231472 GRCh38 Chromosome 6, 151436446: 151436446
10 RMND1 NM_017909.3(RMND1): c.613G> T (p.Asp205Tyr) single nucleotide variant Pathogenic rs606231472 GRCh37 Chromosome 6, 151757581: 151757581
11 RMND1 NM_017909.3(RMND1): c.1003del (p.Ala335Leufs) deletion Pathogenic rs1057519299 GRCh38 Chromosome 6, 151421321: 151421321
12 RMND1 NM_017909.3(RMND1): c.1003del (p.Ala335Leufs) deletion Pathogenic rs1057519299 GRCh37 Chromosome 6, 151742456: 151742456
13 RMND1 NM_017909.2(RMND1): c.1085G> A (p.Arg362His) single nucleotide variant Uncertain significance rs142588921 GRCh38 Chromosome 6, 151417394: 151417394
14 RMND1 NM_017909.2(RMND1): c.1085G> A (p.Arg362His) single nucleotide variant Uncertain significance rs142588921 GRCh37 Chromosome 6, 151738529: 151738529

Expression for Combined Oxidative Phosphorylation Deficiency 11

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 11.

Pathways for Combined Oxidative Phosphorylation Deficiency 11

GO Terms for Combined Oxidative Phosphorylation Deficiency 11

Sources for Combined Oxidative Phosphorylation Deficiency 11

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75 UMLS via Orphanet
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