MCID: CRD170
MIFTS: 20

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1

Categories: Genetic diseases, Cardiovascular 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 57 75 13
Cemcox1 57 75
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 73
Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy 57
Cytochrome C Oxidase Deficiency with Fatal Infantile Cardioencephalomyopathy 75

Characteristics:

OMIM:

57
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:

32
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 57 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 (SCO2, Cytochrome C Oxidase Assembly Protein). Affiliated tissues include spinal cord and thalamus, and related phenotypes are muscular hypotonia and global developmental delay

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

Head And Neck Eyes:
limited extraocular movements


Clinical features from OMIM:

604377

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 global developmental delay 32 HP:0001263
3 generalized hypotonia 32 HP:0001290
4 hypertrophic cardiomyopathy 32 HP:0001639
5 respiratory distress 32 HP:0002098
6 increased serum lactate 32 HP:0002151
7 increased csf lactate 32 HP:0002490
8 neuronal loss in central nervous system 32 HP:0002529
9 lactic acidosis 32 HP:0003128
10 basal ganglia gliosis 32 HP:0006999
11 limited extraocular movements 32 HP:0007941
12 feeding difficulties in infancy 32 HP:0008872

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:

41
Spinal Cord, Thalamus

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

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

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

75
# 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

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

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh37 Chromosome 22, 50962684: 50962684
2 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh38 Chromosome 22, 50524255: 50524255
3 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh37 Chromosome 22, 50962167: 50962167
4 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh38 Chromosome 22, 50523738: 50523738
5 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh37 Chromosome 22, 50962330: 50962330
6 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh38 Chromosome 22, 50523901: 50523901
7 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
8 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh38 Chromosome 22, 50523994: 50523994
9 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh37 Chromosome 22, 50962573: 50962573
10 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh38 Chromosome 22, 50524144: 50524144
11 SCO2 SCO2, 10-BP DUP, NT1302 duplication Pathogenic
12 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh37 Chromosome 22, 50962443: 50962443
13 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh38 Chromosome 22, 50524014: 50524014
14 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh37 Chromosome 22, 50962734: 50962734
15 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh38 Chromosome 22, 50524305: 50524305

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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