COXPD17
MCID: CMB049
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 17 (COXPD17)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 17

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 17:

Name: Combined Oxidative Phosphorylation Deficiency 17 57 75 29 6 73
Coxpd17 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 17 40
Combined Oxidative Phosphorylation Defect Type 17 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 17
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in early childhood may occur
onset in the first 6 months of life


HPO:

32
combined oxidative phosphorylation deficiency 17:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 17

OMIM : 57 Combined oxidative phosphorylation deficiency-17 is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013). (615440)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 17, is also known as coxpd17. An important gene associated with Combined Oxidative Phosphorylation Deficiency 17 is ELAC2 (ElaC Ribonuclease Z 2). Affiliated tissues include heart and skeletal muscle, and related phenotypes are failure to thrive and hearing impairment

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 17: An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 17

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 17

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor growth

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
delayed psychomotor development
hyperintensities in the basal ganglia (rare)

Head And Neck Ears:
hearing impairment (rare)

Cardiovascular Heart:
hypertrophic cardiomyopathy
cardiac failure
heart biopsy shows enlarged mitochondrial with abnormal cristae (rare)

Muscle Soft Tissue:
hypotonia
skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity
decreased mitochondrial complex iv activity (in some patients)

Head And Neck Head:
microcephaly (rare)

Laboratory Abnormalities:
accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts
increased urinary orotic acid (in some patients)
increased urinary organic acids (in some patients)


Clinical features from OMIM:

615440

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 17:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 hearing impairment 32 occasional (7.5%) HP:0000365
3 global developmental delay 32 HP:0001263
4 microcephaly 32 occasional (7.5%) HP:0000252
5 hypertrophic cardiomyopathy 32 HP:0001639
6 congestive heart failure 32 HP:0001635
7 growth delay 32 HP:0001510
8 lactic acidosis 32 HP:0003128
9 generalized hypotonia 32 HP:0001290

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 17

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 17

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 17

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 17:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 17 29 ELAC2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 17

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 17:

41
Heart, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 17

Articles related to Combined Oxidative Phosphorylation Deficiency 17:

# Title Authors Year
1
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation. ( 29302266 )
2017

Variations for Combined Oxidative Phosphorylation Deficiency 17

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 17:

75
# Symbol AA change Variation ID SNP ID
1 ELAC2 p.Phe154Leu VAR_070844 rs397515465
2 ELAC2 p.Leu423Phe VAR_070845 rs397515466
3 ELAC2 p.Thr520Ile VAR_070846 rs397515463

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 17:

6 (show top 50) (show all 144)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELAC2 NM_018127.6(ELAC2): c.1621G> A (p.Ala541Thr) single nucleotide variant Benign rs5030739 GRCh37 Chromosome 17, 12899902: 12899902
2 ELAC2 NM_018127.6(ELAC2): c.1621G> A (p.Ala541Thr) single nucleotide variant Benign rs5030739 GRCh38 Chromosome 17, 12996585: 12996585
3 ELAC2 NM_018127.6(ELAC2): c.1641dup (p.His548Alafs) duplication Uncertain significance rs387906327 GRCh37 Chromosome 17, 12899882: 12899882
4 ELAC2 NM_018127.6(ELAC2): c.1641dup (p.His548Alafs) duplication Uncertain significance rs387906327 GRCh38 Chromosome 17, 12996565: 12996565
5 ELAC2 NM_018127.6(ELAC2): c.2342G> A (p.Arg781His) single nucleotide variant Conflicting interpretations of pathogenicity rs119484086 GRCh37 Chromosome 17, 12896274: 12896274
6 ELAC2 NM_018127.6(ELAC2): c.2342G> A (p.Arg781His) single nucleotide variant Conflicting interpretations of pathogenicity rs119484086 GRCh38 Chromosome 17, 12992957: 12992957
7 ELAC2 NM_018127.6(ELAC2): c.1865A> T (p.Glu622Val) single nucleotide variant Benign rs119484087 GRCh37 Chromosome 17, 12898323: 12898323
8 ELAC2 NM_018127.6(ELAC2): c.1865A> T (p.Glu622Val) single nucleotide variant Benign rs119484087 GRCh38 Chromosome 17, 12995006: 12995006
9 ELAC2 NM_018127.6(ELAC2): c.1559C> T (p.Thr520Ile) single nucleotide variant Pathogenic rs397515463 GRCh37 Chromosome 17, 12899964: 12899964
10 ELAC2 NM_018127.6(ELAC2): c.1559C> T (p.Thr520Ile) single nucleotide variant Pathogenic rs397515463 GRCh38 Chromosome 17, 12996647: 12996647
11 ELAC2 NM_018127.6(ELAC2): c.751A> T (p.Arg251Ter) single nucleotide variant Pathogenic rs397515464 GRCh37 Chromosome 17, 12909284: 12909284
12 ELAC2 NM_018127.6(ELAC2): c.751A> T (p.Arg251Ter) single nucleotide variant Pathogenic rs397515464 GRCh38 Chromosome 17, 13005967: 13005967
13 ELAC2 NM_018127.6(ELAC2): c.460T> C (p.Phe154Leu) single nucleotide variant Pathogenic rs397515465 GRCh37 Chromosome 17, 12917786: 12917786
14 ELAC2 NM_018127.6(ELAC2): c.460T> C (p.Phe154Leu) single nucleotide variant Pathogenic rs397515465 GRCh38 Chromosome 17, 13014469: 13014469
15 ELAC2 NM_018127.6(ELAC2): c.1267C> T (p.Leu423Phe) single nucleotide variant Pathogenic rs397515466 GRCh37 Chromosome 17, 12905628: 12905628
16 ELAC2 NM_018127.6(ELAC2): c.1267C> T (p.Leu423Phe) single nucleotide variant Pathogenic rs397515466 GRCh38 Chromosome 17, 13002311: 13002311
17 ELAC2 NM_018127.6(ELAC2): c.2376G> A (p.Ala792=) single nucleotide variant Likely benign rs180717697 GRCh37 Chromosome 17, 12896240: 12896240
18 ELAC2 NM_018127.6(ELAC2): c.2376G> A (p.Ala792=) single nucleotide variant Likely benign rs180717697 GRCh38 Chromosome 17, 12992923: 12992923
19 ELAC2 NM_018127.6(ELAC2): c.1305-8_1305-7insTCTC insertion Benign rs201830045 GRCh37 Chromosome 17, 12903598: 12903599
20 ELAC2 NM_018127.6(ELAC2): c.1305-8_1305-7insTCTC insertion Benign rs201830045 GRCh38 Chromosome 17, 13000281: 13000282
21 ELAC2 NM_001165962.1(ELAC2): c.1578+1G> C single nucleotide variant Uncertain significance rs1085307065 GRCh37 Chromosome 17, 12899256: 12899256
22 ELAC2 NM_001165962.1(ELAC2): c.1578+1G> C single nucleotide variant Uncertain significance rs1085307065 GRCh38 Chromosome 17, 12995939: 12995939
23 ELAC2 NM_018127.6(ELAC2): c.560-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs149733287 GRCh37 Chromosome 17, 12915101: 12915101
24 ELAC2 NM_018127.6(ELAC2): c.560-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs149733287 GRCh38 Chromosome 17, 13011784: 13011784
25 ELAC2 NM_018127.6(ELAC2) insertion Uncertain significance rs878855051 GRCh37 Chromosome 17, 12896200: 12896201
26 ELAC2 NM_018127.6(ELAC2) insertion Uncertain significance rs878855051 GRCh38 Chromosome 17, 12992883: 12992884
27 ELAC2 NM_018127.6(ELAC2): c.2404G> A (p.Gly802Ser) single nucleotide variant Uncertain significance rs147779718 GRCh38 Chromosome 17, 12992895: 12992895
28 ELAC2 NM_018127.6(ELAC2): c.2404G> A (p.Gly802Ser) single nucleotide variant Uncertain significance rs147779718 GRCh37 Chromosome 17, 12896212: 12896212
29 ELAC2 NM_018127.6(ELAC2): c.2275A> G (p.Thr759Ala) single nucleotide variant Uncertain significance rs199998904 GRCh37 Chromosome 17, 12896341: 12896341
30 ELAC2 NM_018127.6(ELAC2): c.2275A> G (p.Thr759Ala) single nucleotide variant Uncertain significance rs199998904 GRCh38 Chromosome 17, 12993024: 12993024
31 ELAC2 NM_018127.6(ELAC2): c.2142G> T (p.Arg714=) single nucleotide variant Likely benign rs878855050 GRCh38 Chromosome 17, 12993798: 12993798
32 ELAC2 NM_018127.6(ELAC2): c.2142G> T (p.Arg714=) single nucleotide variant Likely benign rs878855050 GRCh37 Chromosome 17, 12897115: 12897115
33 ELAC2 NM_018127.6(ELAC2): c.1699-8dupT duplication Benign rs878855049 GRCh37 Chromosome 17, 12899137: 12899137
34 ELAC2 NM_018127.6(ELAC2): c.1699-8dupT duplication Benign rs878855049 GRCh38 Chromosome 17, 12995820: 12995820
35 ELAC2 NM_018127.6(ELAC2): c.1659G> A (p.Thr553=) single nucleotide variant Uncertain significance rs200420215 GRCh38 Chromosome 17, 12996547: 12996547
36 ELAC2 NM_018127.6(ELAC2): c.1659G> A (p.Thr553=) single nucleotide variant Uncertain significance rs200420215 GRCh37 Chromosome 17, 12899864: 12899864
37 ELAC2 NM_018127.6(ELAC2): c.1479G> C (p.Pro493=) single nucleotide variant Benign rs140335642 GRCh37 Chromosome 17, 12901770: 12901770
38 ELAC2 NM_018127.6(ELAC2): c.1479G> C (p.Pro493=) single nucleotide variant Benign rs140335642 GRCh38 Chromosome 17, 12998453: 12998453
39 ELAC2 NM_018127.6(ELAC2): c.1458T> C (p.Leu486=) single nucleotide variant Likely benign rs150347734 GRCh37 Chromosome 17, 12901791: 12901791
40 ELAC2 NM_018127.6(ELAC2): c.1458T> C (p.Leu486=) single nucleotide variant Likely benign rs150347734 GRCh38 Chromosome 17, 12998474: 12998474
41 ELAC2 NM_018127.6(ELAC2): c.1424-3C> T single nucleotide variant Uncertain significance rs878855048 GRCh37 Chromosome 17, 12901828: 12901828
42 ELAC2 NM_018127.6(ELAC2): c.1424-3C> T single nucleotide variant Uncertain significance rs878855048 GRCh38 Chromosome 17, 12998511: 12998511
43 ELAC2 NM_018127.6(ELAC2): c.368-4T> A single nucleotide variant Benign rs139778647 GRCh38 Chromosome 17, 13015836: 13015836
44 ELAC2 NM_018127.6(ELAC2): c.368-4T> A single nucleotide variant Benign rs139778647 GRCh37 Chromosome 17, 12919153: 12919153
45 ELAC2 NM_018127.6(ELAC2): c.155C> T (p.Ser52Phe) single nucleotide variant Likely benign rs9895963 GRCh37 Chromosome 17, 12921110: 12921110
46 ELAC2 NM_018127.6(ELAC2): c.155C> T (p.Ser52Phe) single nucleotide variant Likely benign rs9895963 GRCh38 Chromosome 17, 13017793: 13017793
47 ELAC2 NM_018127.6(ELAC2): c.155C> G (p.Ser52Cys) single nucleotide variant Likely benign rs9895963 GRCh37 Chromosome 17, 12921110: 12921110
48 ELAC2 NM_018127.6(ELAC2): c.155C> G (p.Ser52Cys) single nucleotide variant Likely benign rs9895963 GRCh38 Chromosome 17, 13017793: 13017793
49 ELAC2 NM_018127.6(ELAC2): c.2130C> T (p.Ser710=) single nucleotide variant Benign rs7217826 GRCh37 Chromosome 17, 12897127: 12897127
50 ELAC2 NM_018127.6(ELAC2): c.2130C> T (p.Ser710=) single nucleotide variant Benign rs7217826 GRCh38 Chromosome 17, 12993810: 12993810

Expression for Combined Oxidative Phosphorylation Deficiency 17

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 17.

Pathways for Combined Oxidative Phosphorylation Deficiency 17

GO Terms for Combined Oxidative Phosphorylation Deficiency 17

Sources for Combined Oxidative Phosphorylation Deficiency 17

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