CEMCOX1
MCID: CRD170
MIFTS: 25

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 (CEMCOX1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

MalaCards integrated aliases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 56 73 13
Cemcox1 56 73
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 71
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 1 12
Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy 56
Cytochrome C Oxidase Deficiency with Fatal Infantile Cardioencephalomyopathy 73

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset at birth
onset of cardiomyopathy may occur several months after birth
phenotypic overlap with cytochrome c oxidase deficiency

Inheritance:
autosomal recessive


HPO:

31
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080357
OMIM 56 604377
MedGen 41 C1858424
UMLS 71 C1858424

Summaries for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

OMIM : 56 Cardioencephalomyopathy due to cytochrome c oxidase deficiency is an autosomal recessive mitochondrial disorder characterized by onset of cardiomyopathy either in utero or in the first days of life. Most patients also show neurologic abnormalities, such as abnormal breathing pattern, nystagmus, and gyral abnormalities, consistent with encephalopathy. The disorder is usually fatal in early infancy (summary by Papadopoulou et al., 1999). (604377)

MalaCards based summary : Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1, is also known as cemcox1, and has symptoms including dyspnea An important gene associated with Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 is SCO2 (Synthesis Of Cytochrome C Oxidase 2). Affiliated tissues include spinal cord and thalamus, and related phenotypes are global developmental delay and muscular hypotonia

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.

UniProtKB/Swiss-Prot : 73 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1: A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency.

Related Diseases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Symptoms & Phenotypes for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Human phenotypes related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 muscular hypotonia 31 HP:0001252
3 feeding difficulties in infancy 31 HP:0008872
4 hypertrophic cardiomyopathy 31 HP:0001639
5 increased serum lactate 31 HP:0002151
6 increased csf lactate 31 HP:0002490
7 lactic acidosis 31 HP:0003128
8 respiratory distress 31 HP:0002098
9 generalized hypotonia 31 HP:0001290
10 neuronal loss in central nervous system 31 HP:0002529
11 limited extraocular movements 31 HP:0007941
12 neuronal loss in basal ganglia 31 HP:0200147
13 basal ganglia gliosis 31 HP:0006999

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Respiratory:
respiratory difficulties

Muscle Soft Tissue:
hypotonia
muscle biopsy shows decreased cytochrome c oxidase activity

Abdomen Gastrointestinal:
feeding difficulties

Metabolic Features:
lactic acidosis

Head And Neck Eyes:
limited extraocular movements

Neurologic Central Nervous System:
developmental delay
gliosis, necrosis, neuronal loss in basal ganglia, brainstem, and spinal cord
mri may show lesions in basal ganglia, thalamus, and white matter

Clinical features from OMIM:

604377

UMLS symptoms related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:


dyspnea

Drugs & Therapeutics for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Search Clinical Trials , NIH Clinical Center for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1

Genetic Tests for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Anatomical Context for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

MalaCards organs/tissues related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

40
Spinal Cord, Thalamus

Publications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Articles related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

# Title Authors PMID Year
1
Phenotypic consequences of a novel SCO2 gene mutation. 56 6
18924171 2008
2
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 6 56
10749987 2000
3
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 6 56
10545952 1999
4
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 6
23643385 2013
5
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
6
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 56
15210538 2004
7
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 6
14994243 2004
8
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 6
14970747 2004
9
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 6
12020273 2002
10
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 6
11673586 2001

Variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

ClinVar genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCO2 NM_152299.4(NCAPH2):c.*880G>ASNV Pathogenic 5678 rs74315510 22:50962684-50962684 22:50524255-50524255
2 SCO2 NM_152299.4(NCAPH2):c.*363G>ASNV Pathogenic 5679 rs80358232 22:50962167-50962167 22:50523738-50523738
3 SCO2 NM_152299.4(NCAPH2):c.*526G>ASNV Pathogenic 5680 rs28937598 22:50962330-50962330 22:50523901-50523901
4 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
5 SCO2 NM_152299.4(NCAPH2):c.*769G>ASNV Pathogenic 5682 rs74315512 22:50962573-50962573 22:50524144-50524144
6 SCO2 SCO2, 10-BP DUP, NT1302duplication Pathogenic 5683
7 SCO2 NM_152299.4(NCAPH2):c.*639C>TSNV Pathogenic 5684 rs28937868 22:50962443-50962443 22:50524014-50524014
8 SCO2 NM_152299.4(NCAPH2):c.*930C>TSNV Pathogenic 5685 rs121908508 22:50962734-50962734 22:50524305-50524305
9 SCO2 NM_005138.3(SCO2):c.2T>C (p.Met1Thr)SNV Pathogenic 800843 22:50962839-50962839 22:50524410-50524410
10 SCO2 NM_152299.4(NCAPH2):c.*836G>ASNV Conflicting interpretations of pathogenicity 139083 rs61748568 22:50962640-50962640 22:50524211-50524211
11 SCO2 NM_152299.4(NCAPH2):c.*696C>TSNV Conflicting interpretations of pathogenicity 50905 rs145100473 22:50962500-50962500 22:50524071-50524071
12 SCO2 NM_005138.3(SCO2):c.576C>T (p.Thr192=)SNV Conflicting interpretations of pathogenicity 702033 22:50962265-50962265 22:50523836-50523836
13 SCO2 NM_005138.3(SCO2):c.723C>T (p.Tyr241=)SNV Conflicting interpretations of pathogenicity 800057 22:50962118-50962118 22:50523689-50523689
14 SCO2 NM_152299.4(NCAPH2):c.*274G>TSNV Conflicting interpretations of pathogenicity 139087 rs112793292 22:50962078-50962078 22:50523649-50523649
15 SCO2 NM_152299.4(NCAPH2):c.*502G>ASNV Conflicting interpretations of pathogenicity 215130 rs780314255 22:50962306-50962306 22:50523877-50523877
16 SCO2 NM_152299.4(NCAPH2):c.*299C>GSNV Conflicting interpretations of pathogenicity 342123 rs200605042 22:50962103-50962103 22:50523674-50523674
17 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*800C>TSNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175
18 SCO2 NM_001169109.1(SCO2):c.-14+646G>CSNV Conflicting interpretations of pathogenicity 342134 rs145052206 22:50964029-50964029 22:50525600-50525600
19 SCO2 NM_152299.4(NCAPH2):c.*299C>TSNV Conflicting interpretations of pathogenicity 382126 rs200605042 22:50962103-50962103 22:50523674-50523674
20 SCO2 NM_152299.4(NCAPH2):c.*875G>ASNV Uncertain significance 342127 rs139545104 22:50962679-50962679 22:50524250-50524250
21 SCO2 NM_152299.4(NCAPH2):c.*1033G>CSNV Uncertain significance 342128 rs747642461 22:50962837-50962837 22:50524408-50524408
22 SCO2 NM_001169109.1(SCO2):c.-14+674G>CSNV Uncertain significance 342132 rs554814235 22:50964001-50964001 22:50525572-50525572
23 SCO2 NM_152299.4(NCAPH2):c.*793T>CSNV Uncertain significance 342125 rs765425160 22:50962597-50962597 22:50524168-50524168
24 SCO2 NM_001169109.1(SCO2):c.-14+737C>TSNV Uncertain significance 342129 rs886057631 22:50963938-50963938 22:50525509-50525509
25 SCO2 NM_152299.4(NCAPH2):c.*761T>CSNV Uncertain significance 342124 rs886057630 22:50962565-50962565 22:50524136-50524136
26 SCO2 NM_001169109.1(SCO2):c.-14+705A>GSNV Uncertain significance 342131 rs886057632 22:50963970-50963970 22:50525541-50525541
27 SCO2 NM_152299.4(NCAPH2):c.*659C>TSNV Uncertain significance 215127 rs150880212 22:50962463-50962463 22:50524034-50524034
28 SCO2 NM_005138.3(SCO2):c.541G>A (p.Val181Ile)SNV Uncertain significance 902939 22:50962300-50962300 22:50523871-50523871
29 SCO2 NM_005138.3(SCO2):c.226C>T (p.Leu76=)SNV Uncertain significance 900387 22:50962615-50962615 22:50524186-50524186
30 SCO2 NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)SNV Uncertain significance 900447 22:50962668-50962668 22:50524239-50524239
31 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*710G>ASNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085
32 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*455G>ASNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830
33 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*261G>ASNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636
34 SCO2 , TYMP NM_001169109.1(SCO2):c.-14+710G>CSNV Benign 342130 rs131806 22:50963965-50963965 22:50525536-50525536
35 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*404T>GSNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779
36 SCO2 , TYMP NM_001257988.1(TYMP):c.1284T>A (p.Gly428=)SNV Benign 137876 rs1138404 22:50964446-50964446 22:50526017-50526017
37 SCO2 , TYMP NM_001169109.1(SCO2):c.-14+770G>ASNV Benign 139081 rs74479613 22:50963905-50963905 22:50525476-50525476
38 NCAPH2 , SCO2 , TYMP NM_152299.4(NCAPH2):c.*978C>GSNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353

UniProtKB/Swiss-Prot genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1:

73
# Symbol AA change Variation ID SNP ID
1 SCO2 p.Glu140Lys VAR_008874 rs74315511
2 SCO2 p.Ser225Phe VAR_008875 rs80358232
3 SCO2 p.Arg171Trp VAR_013238 rs28937598
4 SCO2 p.Cys133Tyr VAR_070054 rs28937868
5 SCO2 p.Gly193Ser VAR_076281 rs759452074

Expression for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Search GEO for disease gene expression data for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1.

Pathways for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

GO Terms for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

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