COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described.
|
31523922 |
2019 |
COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Our report expands the genetic spectrum of diseases related to AIFM1 mutations and indicates that fatty infiltration and atrophy of muscles in the peroneal compartment may be a feature of CMTX4 in early stage.
|
30031633 |
2018 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
BEFREE |
The AIFM1 gene has been linked with COXPD6 encephalomyopathy (MIM 300816), Cowchock syndrome (MIM 310490) and X-linked deafness with neuropathy (DFNX5, MIM 300614), none of which are similar to SEMD-MR. Our results place SEMD as the third instance of a skeletal phenotype associated with a mitochondrial disease (the others being EVEN-PLUS syndrome caused by mutations of HSPA9 and CODAS syndrome due to LONP1 mutations).
|
27102849 |
2017 |
COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AIFM1 have resulted in multiple clinical phenotypes, including X-linked Charcot-Marie-Tooth disease type 4.
|
28888069 |
2017 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and cognitive impairment.
|
26173962 |
2016 |
COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.
|
26004228 |
2015 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
|
23217327 |
2012 |
COWCHOCK SYNDROME
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
|
23217327 |
2012 |
COWCHOCK SYNDROME
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
|
23217327 |
2012 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
|
20362274 |
2010 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.
|
3856385 |
1985 |
COWCHOCK SYNDROME
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
COWCHOCK SYNDROME
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
|
28888069 |
2017 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
|
28975462 |
2017 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
Biomarker
|
disease |
CLINGEN |
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
|
28842795 |
2017 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
|
26173962 |
2016 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.
|
27178839 |
2016 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
|
25986071 |
2015 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
|
25986071 |
2015 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
|
25986071 |
2015 |
DEAFNESS, X-LINKED 5 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
|
25986071 |
2015 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.
|
26004228 |
2015 |