MCID: CHC002
MIFTS: 9

Chchd10-Related Disorders

Aliases & Classifications for Chchd10-Related Disorders

MalaCards integrated aliases for Chchd10-Related Disorders:

Name: Chchd10-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is difficult to estimate because few unaffected individuals in families with a chchd10-related disorder have been genotyped or longitudinally followed for the emergence of symptoms....

Summaries for Chchd10-Related Disorders

MalaCards based summary : Chchd10-Related Disorders is related to amyotrophic lateral sclerosis 1 and frontotemporal dementia and/or amyotrophic lateral sclerosis 1. An important gene associated with Chchd10-Related Disorders is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Affiliated tissues include heart.

GeneReviews: NBK304142

Related Diseases for Chchd10-Related Disorders

Graphical network of the top 20 diseases related to Chchd10-Related Disorders:



Diseases related to Chchd10-Related Disorders

Symptoms & Phenotypes for Chchd10-Related Disorders

Drugs & Therapeutics for Chchd10-Related Disorders

Search Clinical Trials , NIH Clinical Center for Chchd10-Related Disorders

Genetic Tests for Chchd10-Related Disorders

Anatomical Context for Chchd10-Related Disorders

MalaCards organs/tissues related to Chchd10-Related Disorders:

41
Heart

Publications for Chchd10-Related Disorders

Articles related to Chchd10-Related Disorders:

(show all 31)
# Title Authors PMID Year
1
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? 4
25953780 2015
2
Mutation analysis of CHCHD10 in different neurodegenerative diseases. 4
25833818 2015
3
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. 4
25681413 2015
4
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. 4
25681414 2015
5
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. 4
25576308 2015
6
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. 4
25428574 2015
7
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. 4
25193783 2015
8
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 4
25261972 2014
9
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. 4
25155093 2014
10
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 4
25113787 2014
11
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. 4
24934289 2014
12
CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. 4
22228767 2012
13
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 4
21944779 2011
14
Classification of primary progressive aphasia and its variants. 4
21325651 2011
15
ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function. 4
21081504 2011
16
Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. 4
20888800 2010
17
Clinical staging and disease progression in frontotemporal dementia. 4
20479357 2010
18
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 4
18779421 2008
19
TDP-43 A315T mutation in familial motor neuron disease. 4
18288693 2008
20
FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer's disease. 4
17704526 2007
21
Scale for the assessment and rating of ataxia: development of a new clinical scale. 4
16769946 2006
22
Paroxetine does not improve symptoms and impairs cognition in frontotemporal dementia: a double-blind randomized controlled trial. 4
14666399 2004
23
Frontotemporal dementia: a randomised, controlled trial with trazodone. 4
15178953 2004
24
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. 4
11464847 2000
25
Amyotrophic lateral sclerosis mimic syndromes: a population-based study. 4
10634456 2000
26
Phenotypic variation in hereditary frontotemporal dementia with tau mutations. 4
10514099 1999
27
Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology: ALS Practice Parameters Task Force. 4
10227612 1999
28
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) 4
10219785 1999
29
Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. 4
9189031 1997
30
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. 4
1416801 1992
31
CHCHD10-Related Disorders 38
26131548 2015

Variations for Chchd10-Related Disorders

Expression for Chchd10-Related Disorders

Search GEO for disease gene expression data for Chchd10-Related Disorders.

Pathways for Chchd10-Related Disorders

GO Terms for Chchd10-Related Disorders

Sources for Chchd10-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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