COXPD11
MCID: CMB046
MIFTS: 29

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 56 12 73 29 13 6 71
Coxpd11 56 12 58 73
Infantile Encephaloneuromyopathy Due to Mitochondrial Translation Defect 12 73
Encephaloneuromyopathy, Infantile, Due to Mitochondrial Translation Defect 56
Combined Oxidative Phosphorylation Deficiency, Type 11 39
Combined Oxidative Phosphorylation Defect Type 11 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 11
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 11:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 11

OMIM : 56 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 myoclonus

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has material basis in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1.

UniProtKB/Swiss-Prot : 73 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:

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

Symptoms via clinical synopsis from OMIM:

56
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

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

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

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

Metabolic Features:
lactic acidosis

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 29

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 11

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

40
Kidney, Liver, Tongue, Spinal Cord, Skin

Publications for Combined Oxidative Phosphorylation Deficiency 11

Articles related to Combined Oxidative Phosphorylation Deficiency 11:

# Title Authors PMID Year
1
Hearing impairment and renal failure associated with RMND1 mutations. 56 6
26395190 2016
2
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 56 6
25604853 2015
3
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 56 6
25058219 2014
4
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 56 6
23022098 2012
5
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 56 6
23022099 2012
6
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis. 56 6
18835491 2008
7
Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene. 61
29071585 2018
8
Rapid Targeted Genomics in Critically Ill Newborns. 61
28939701 2017
9
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? 61
26238252 2016

Variations for Combined Oxidative Phosphorylation Deficiency 11

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 11:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RMND1 NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)SNV Pathogenic 242631 rs606231472 6:151757581-151757581 6:151436446-151436446
2 RMND1 NM_017909.4(RMND1):c.504+1G>ASNV Pathogenic 39764 rs1562800908 6:151766442-151766442 6:151445307-151445307
3 RMND1 NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)SNV Pathogenic 39765 rs397515421 6:151726922-151726922 6:151405787-151405787
4 RMND1 NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)SNV Pathogenic 143051 rs115079861 6:151726371-151726371 6:151405236-151405236
5 RMND1 NM_017909.3(RMND1):c.1003del (p.Ala335Leufs)deletion Pathogenic 374907 rs1057519299 6:151742456-151742456 6:151421321-151421321
6 RMND1 NM_017909.4(RMND1):c.388del (p.Val130fs)deletion Likely pathogenic 802282 6:151766559-151766559 6:151445424-151445424
7 RMND1 NM_017909.4(RMND1):c.727del (p.Thr243fs)deletion Likely pathogenic 804397 6:151751275-151751275 6:151430140-151430140
8 RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154
9 RMND1 NM_017909.4(RMND1):c.1085G>A (p.Arg362His)SNV Uncertain significance 440932 rs142588921 6:151738529-151738529 6:151417394-151417394
10 RMND1 NM_017909.4(RMND1):c.1286A>T (p.Glu429Val)SNV Uncertain significance 666266 6:151726886-151726886 6:151405751-151405751
11 RMND1 NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)SNV Uncertain significance 666265 6:151742410-151742410 6:151421275-151421275
12 RMND1 NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)SNV Uncertain significance 801002 6:151744677-151744677 6:151423542-151423542

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

73
# Symbol AA change Variation ID SNP ID
1 RMND1 p.Arg417Gln VAR_069036 rs397515421

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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