|
Cytochrome-c Oxidase Deficiency
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
|
26685157 |
2016 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
|
26685157 |
2016 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
|
26685157 |
2016 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
|
26685157 |
2016 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
|
26685157 |
2016 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
BEFREE |
The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency.
|
21266382 |
2011 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
BEFREE |
Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
|
18499082 |
2008 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families.
|
16288875 |
2005 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
|
9402980 |
1997 |
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cytochrome-c Oxidase Deficiency
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Alcoholic Intoxication
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Genetic determinants of ethanol-induced liver damage.
|
11471570 |
2001 |
|
Ataxia
|
0.140 |
Biomarker
|
phenotype |
BEFREE |
The sensorimotor cerebellum is represented in the anterior lobe with a second representation in lobule VIII, and lesions of these areas lead to the cerebellar motor syndrome of ataxia, dysmetria, dysarthria and impaired oculomotor control.
|
29997061 |
2019 |
|
Ataxia
|
0.140 |
Biomarker
|
phenotype |
BEFREE |
Carbonic anhydrase-related protein VIII (CA8) is an IP<sub>3</sub>R1-regulating protein abundantly expressed in cerebellar Purkinje cells and is a causative gene of congenital ataxia.
|
30429331 |
2018 |
|
Ataxia
|
0.140 |
GeneticVariation
|
phenotype |
BEFREE |
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.
|
23087022 |
2013 |
|
Ataxia
|
0.140 |
Biomarker
|
phenotype |
BEFREE |
A mutation in the CA8 gene has been associated with ataxia, mild mental retardation and quadrupedal gait in humans and with lifelong gait disorder in mice, suggesting an important role for CARP VIII in the brain.
|
20819067 |
2010 |
|
Ataxia
|
0.140 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.110 |
Biomarker
|
disease |
BEFREE |
SNHL showed reduced thalamic connectivity with the cerebellum lobule VIII, ventral anterior cingulate cortex, insula, superior temporal gyrus, media temporal gyrus, medial frontal gyrus, Heschl's gyrus, and temporal pole.
|
30694013 |
2019 |
|
Facial Paresis
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Most frequent clinical features were bilateral cranial nerve VIII nerve sheath tumor (NST) in 87%, spinal NST in 80%, hearing loss in 65%, spinal dysfunction in 50%, intracranial meningioma in 49%, and facial paresis in 36%.
|
28720529 |
2017 |
|
Intellectual Disability
|
0.110 |
Biomarker
|
group |
BEFREE |
This work reveals an evolutionarily conserved function of CARP VIII in brain development and introduces a novel zebrafish model in which to investigate the mechanisms of CARP VIII-related ataxia and mental retardation in humans.
|
23087022 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Facial Paresis
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Intellectual Disability
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Hemophilia B
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hemophilia is a rare bleeding disorder caused by a deficiency of the plasma coagulation factors VIII and IX (hemophilia A [HA] and hemophilia B [HB], respectively).
|
31669933 |
2020 |
|
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
Antigen-specific in vitro expansion of factor VIII-specific regulatory T cells induces tolerance in hemophilia A mice.
|
31609041 |
2020 |