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COQ10D7
MCID: CNZ010
MIFTS: 39
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Coenzyme Q10 Deficiency, Primary, 7 (COQ10D7)
Categories:
Cardiovascular diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 7:
Characteristics:Orphanet epidemiological data:58
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood,infantile; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
prenatal onset or onset at birth most patients die in the first days of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Cardiovascular diseases
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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OMIM :
56
Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). (616276)
MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 7, also known as coq10d7, is related to coenzyme q10 deficiency, primary, 1 and leigh syndrome with nephrotic syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 7 is COQ4 (Coenzyme Q4), and among its related pathways/superpathways are Mitochondrial protein import and Ubiquinol biosynthesis. Affiliated tissues include heart and skeletal muscle, and related phenotypes are scoliosis and hypertrophic cardiomyopathy Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ4 on chromosome 9q34.11. UniProtKB/Swiss-Prot : 73 Coenzyme Q10 deficiency, primary, 7: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. |
Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 7:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616276 |
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MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 7:40
Heart,
Skeletal Muscle
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Articles related to Coenzyme Q10 Deficiency, Primary, 7:
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Genes related to Coenzyme Q10 Deficiency, Primary, 7 (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 7:6 (show top 50) (show all 61)
UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 7:73
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Search
GEO
for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 7.
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Cellular components related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:
Biological processes related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:
Molecular functions related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:
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