COXPD11
MCID: CMB046
MIFTS: 24

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 57 75 29 13 6 73
Coxpd11 57 59 75
Encephaloneuromyopathy, Infantile, Due to Mitochondrial Translation Defect 57
Infantile Encephaloneuromyopathy Due to Mitochondrial Translation Defect 75
Combined Oxidative Phosphorylation Deficiency, Type 11 40
Combined Oxidative Phosphorylation Defect Type 11 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 11
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 11:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 11

OMIM : 57 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 seizures and hearing impairment

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 11:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hearing impairment 32 HP:0000365
3 global developmental delay 32 HP:0001263
4 hepatomegaly 32 occasional (7.5%) HP:0002240
5 renal insufficiency 32 HP:0000083
6 myopathy 32 HP:0003198
7 decreased liver function 32 HP:0001410
8 peripheral neuropathy 32 occasional (7.5%) HP:0009830
9 feeding difficulties 32 HP:0011968
10 myoclonus 32 occasional (7.5%) HP:0001336
11 absent speech 32 HP:0001344
12 hepatic steatosis 32 HP:0001397
13 cardiomyopathy 32 occasional (7.5%) HP:0001638
14 cerebral cortical atrophy 32 HP:0002120
15 increased serum lactate 32 HP:0002151
16 lactic acidosis 32 HP:0003128
17 renal hypoplasia 32 HP:0000089
18 areflexia 32 HP:0001284
19 hyporeflexia 32 HP:0001265
20 lethargy 32 HP:0001254
21 pachygyria 32 HP:0001302
22 severe muscular hypotonia 32 HP:0006829
23 generalized hypotonia 32 HP:0001290
24 hypoplasia of the corpus callosum 32 HP:0002079
25 renal cyst 32 HP:0000107
26 cns hypomyelination 32 HP:0003429
27 renal dysplasia 32 HP:0000110
28 renal tubular acidosis 32 HP:0001947
29 increased csf lactate 32 HP:0002490
30 tongue fasciculations 32 occasional (7.5%) HP:0001308
31 delayed myelination 32 HP:0012448

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 29 RMND1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 11

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

41
Kidney, Liver, Tongue, Spinal Cord

Publications for Combined Oxidative Phosphorylation Deficiency 11

Variations for Combined Oxidative Phosphorylation Deficiency 11

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

75
# 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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 RMND1 RMND1, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
2 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
3 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh38 Chromosome 6, 151405787: 151405787
4 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
5 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh38 Chromosome 6, 151405236: 151405236
6 RMND1 NM_017909.3(RMND1): c.713A> G (p.Asn238Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144972972 GRCh38 Chromosome 6, 151430154: 151430154
7 RMND1 NM_017909.3(RMND1): c.713A> G (p.Asn238Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144972972 GRCh37 Chromosome 6, 151751289: 151751289
8 RMND1 NM_017909.3(RMND1): c.613G> T (p.Asp205Tyr) single nucleotide variant Pathogenic rs606231472 GRCh38 Chromosome 6, 151436446: 151436446
9 RMND1 NM_017909.3(RMND1): c.613G> T (p.Asp205Tyr) single nucleotide variant Pathogenic rs606231472 GRCh37 Chromosome 6, 151757581: 151757581
10 RMND1 NM_017909.3(RMND1): c.1003delG (p.Ala335Leufs) deletion Pathogenic rs1057519299 GRCh38 Chromosome 6, 151421321: 151421321
11 RMND1 NM_017909.3(RMND1): c.1003delG (p.Ala335Leufs) deletion Pathogenic rs1057519299 GRCh37 Chromosome 6, 151742456: 151742456
12 RMND1 NM_017909.3(RMND1): c.1085G> A (p.Arg362His) single nucleotide variant Uncertain significance rs142588921 GRCh38 Chromosome 6, 151417394: 151417394
13 RMND1 NM_017909.3(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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74 UMLS via Orphanet
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