COXPD17
MCID: CMB049
MIFTS: 30

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 12 72 29 6 15 70
Coxpd17 57 12 58 72
Combined Oxidative Phosphorylation Deficiency, Type 17 39
Combined Oxidative Phosphorylation Defect Type 17 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 17
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 17:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111496
OMIM® 57 615440
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA369913
UMLS 70 C3809526

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) (Updated 20-May-2021)

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

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has material basis in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12.

UniProtKB/Swiss-Prot : 72 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

Diseases related to Combined Oxidative Phosphorylation Deficiency 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 10.1
2 encephalopathy 10.1
3 mitochondrial disorder due to a defect in mitochondrial protein synthesis 10.1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 17

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 17:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 microcephaly 31 occasional (7.5%) HP:0000252
3 failure to thrive 31 HP:0001508
4 global developmental delay 31 HP:0001263
5 congestive heart failure 31 HP:0001635
6 growth delay 31 HP:0001510
7 hypertrophic cardiomyopathy 31 HP:0001639
8 lactic acidosis 31 HP:0003128
9 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Skeletal Muscle, Heart

Publications for Combined Oxidative Phosphorylation Deficiency 17

Articles related to Combined Oxidative Phosphorylation Deficiency 17:

# Title Authors PMID Year
1
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 57 6
23849775 2013
2
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. 6
31045291 2019
3
Solid organ transplantation in primary mitochondrial disease: Proceed with caution. 6
27312126 2016
4
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation. 61
29302266 2017

Variations for Combined Oxidative Phosphorylation Deficiency 17

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 17:

6 (show top 50) (show all 138)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELAC2 NM_018127.7(ELAC2):c.1559C>T (p.Thr520Ile) SNV Pathogenic 66035 rs397515463 GRCh37: 17:12899964-12899964
GRCh38: 17:12996647-12996647
2 ELAC2 NM_018127.7(ELAC2):c.751A>T (p.Arg251Ter) SNV Pathogenic 66036 rs397515464 GRCh37: 17:12909284-12909284
GRCh38: 17:13005967-13005967
3 ELAC2 NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) SNV Pathogenic 66037 rs397515465 GRCh37: 17:12917786-12917786
GRCh38: 17:13014469-13014469
4 ELAC2 NM_018127.7(ELAC2):c.1267C>T (p.Leu423Phe) SNV Pathogenic 66038 rs397515466 GRCh37: 17:12905628-12905628
GRCh38: 17:13002311-13002311
5 ELAC2 NM_018127.7(ELAC2):c.457del (p.Ile153fs) Deletion Pathogenic 561001 rs1567773277 GRCh37: 17:12917789-12917789
GRCh38: 17:13014472-13014472
6 ELAC2 NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) SNV Pathogenic 951292 GRCh37: 17:12921177-12921177
GRCh38: 17:13017860-13017860
7 ELAC2 NM_018127.7(ELAC2):c.2009del (p.Cys670fs) Deletion Pathogenic 488502 rs761385155 GRCh37: 17:12898101-12898101
GRCh38: 17:12994784-12994784
8 ELAC2 NM_018127.7(ELAC2):c.2009del (p.Cys670fs) Deletion Pathogenic 828177 rs761385155 GRCh37: 17:12898101-12898101
GRCh38: 17:12994784-12994784
9 ELAC2 NM_018127.6:c.297delG Deletion Pathogenic 998384 GRCh37: 17:12920249-12920249
GRCh38: 17:13016932-13016932
10 ELAC2 NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) SNV Pathogenic 452048 rs763770476 GRCh37: 17:12901805-12901805
GRCh38: 17:12998488-12998488
11 ELAC2 NM_018127.7(ELAC2):c.297-2A>T SNV Pathogenic 997527 GRCh37: 17:12920251-12920251
GRCh38: 17:13016934-13016934
12 ELAC2 NM_018127.7(ELAC2):c.1908+1G>A SNV Likely pathogenic 1029514 GRCh37: 17:12898279-12898279
GRCh38: 17:12994962-12994962
13 ELAC2 NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) SNV Likely pathogenic 488503 rs1555575927 GRCh37: 17:12906847-12906847
GRCh38: 17:13003530-13003530
14 ELAC2 NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) SNV Likely pathogenic 488504 rs1555576642 GRCh37: 17:12908360-12908360
GRCh38: 17:13005043-13005043
15 ELAC2 NM_018127.7(ELAC2):c.560-2A>G SNV Conflicting interpretations of pathogenicity 235643 rs149733287 GRCh37: 17:12915101-12915101
GRCh38: 17:13011784-13011784
16 ELAC2 NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) SNV Conflicting interpretations of pathogenicity 5058 rs119484086 GRCh37: 17:12896274-12896274
GRCh38: 17:12992957-12992957
17 ELAC2 NM_018127.7(ELAC2):c.1659G>A (p.Thr553=) SNV Uncertain significance 241273 rs200420215 GRCh37: 17:12899864-12899864
GRCh38: 17:12996547-12996547
18 ELAC2 NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys) SNV Uncertain significance 965536 GRCh37: 17:12898099-12898099
GRCh38: 17:12994782-12994782
19 ELAC2 NM_018127.7(ELAC2):c.983+6G>C SNV Uncertain significance 971881 GRCh37: 17:12908300-12908300
GRCh38: 17:13004983-13004983
20 ELAC2 NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly) SNV Uncertain significance 1029515 GRCh37: 17:12915064-12915064
GRCh38: 17:13011747-13011747
21 ELAC2 NM_018127.7(ELAC2):c.2254-5T>G SNV Uncertain significance 1034423 GRCh37: 17:12896367-12896367
GRCh38: 17:12993050-12993050
22 ELAC2 NM_018127.7(ELAC2):c.546G>C (p.Gln182His) SNV Uncertain significance 1034593 GRCh37: 17:12916537-12916537
GRCh38: 17:13013220-13013220
23 ELAC2 NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala) SNV Uncertain significance 1036522 GRCh37: 17:12899289-12899289
GRCh38: 17:12995972-12995972
24 ELAC2 NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr) SNV Uncertain significance 1038127 GRCh37: 17:12897108-12897108
GRCh38: 17:12993791-12993791
25 ELAC2 NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr) SNV Uncertain significance 1038553 GRCh37: 17:12899976-12899976
GRCh38: 17:12996659-12996659
26 ELAC2 NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp) SNV Uncertain significance 1038815 GRCh37: 17:12898183-12898183
GRCh38: 17:12994866-12994866
27 ELAC2 NM_018127.7(ELAC2):c.1577G>A (p.Arg526His) SNV Uncertain significance 1039547 GRCh37: 17:12899946-12899946
GRCh38: 17:12996629-12996629
28 ELAC2 NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr) SNV Uncertain significance 1042833 GRCh37: 17:12915099-12915099
GRCh38: 17:13011782-13011782
29 ELAC2 NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) Microsatellite Uncertain significance 1043480 GRCh37: 17:12899274-12899276
GRCh38: 17:12995957-12995959
30 ELAC2 NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) SNV Uncertain significance 999041 GRCh37: 17:12897770-12897770
GRCh38: 17:12994453-12994453
31 ELAC2 NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys) SNV Uncertain significance 1001001 GRCh37: 17:12921041-12921041
GRCh38: 17:13017724-13017724
32 ELAC2 NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala) SNV Uncertain significance 1004924 GRCh37: 17:12908381-12908381
GRCh38: 17:13005064-13005064
33 ELAC2 NM_018127.7(ELAC2):c.1098G>C (p.Gln366His) SNV Uncertain significance 1005221 GRCh37: 17:12905878-12905878
GRCh38: 17:13002561-13002561
34 ELAC2 NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) SNV Uncertain significance 1007944 GRCh37: 17:12897784-12897784
GRCh38: 17:12994467-12994467
35 ELAC2 NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) Duplication Uncertain significance 408865 rs1555571246 GRCh37: 17:12896200-12896201
GRCh38: 17:12992883-12992884
36 ELAC2 NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu) SNV Uncertain significance 581028 rs139453392 GRCh37: 17:12916571-12916571
GRCh38: 17:13013254-13013254
37 ELAC2 NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) SNV Uncertain significance 640698 rs1184764865 GRCh37: 17:12909084-12909084
GRCh38: 17:13005767-13005767
38 ELAC2 NM_018127.7(ELAC2):c.677A>G (p.His226Arg) SNV Uncertain significance 838895 GRCh37: 17:12914982-12914982
GRCh38: 17:13011665-13011665
39 ELAC2 NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln) SNV Uncertain significance 848864 GRCh37: 17:12898086-12898086
GRCh38: 17:12994769-12994769
40 ELAC2 NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) SNV Uncertain significance 385026 rs777147755 GRCh37: 17:12896213-12896213
GRCh38: 17:12992896-12992896
41 ELAC2 NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe) SNV Uncertain significance 941064 GRCh37: 17:12905847-12905847
GRCh38: 17:13002530-13002530
42 ELAC2 NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) SNV Uncertain significance 944973 GRCh37: 17:12919122-12919122
GRCh38: 17:13015805-13015805
43 ELAC2 NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met) SNV Uncertain significance 964598 GRCh37: 17:12899865-12899865
GRCh38: 17:12996548-12996548
44 ELAC2 NM_018127.7(ELAC2):c.226G>A (p.Val76Ile) SNV Uncertain significance 969667 GRCh37: 17:12921039-12921039
GRCh38: 17:13017722-13017722
45 ELAC2 NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) SNV Uncertain significance 1016087 GRCh37: 17:12915068-12915068
GRCh38: 17:13011751-13011751
46 ELAC2 NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) SNV Uncertain significance 852029 GRCh37: 17:12905799-12905799
GRCh38: 17:13002482-13002482
47 ELAC2 NM_018127.7(ELAC2):c.851_853del (p.Ile284del) Deletion Uncertain significance 950247 GRCh37: 17:12909087-12909089
GRCh38: 17:13005770-13005772
48 ELAC2 NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg) SNV Uncertain significance 951291 GRCh37: 17:12905609-12905609
GRCh38: 17:13002292-13002292
49 ELAC2 NM_018127.7(ELAC2):c.2264_2265GA[1] (p.Asp756fs) Microsatellite Uncertain significance 847719 GRCh37: 17:12896349-12896350
GRCh38: 17:12993032-12993033
50 ELAC2 NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val) SNV Uncertain significance 852030 GRCh37: 17:12897134-12897134
GRCh38: 17:12993817-12993817

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

72
# 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

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

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