ACCPN
MCID: HRD103
MIFTS: 13

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (ACCPN)

Categories: Neuronal diseases, Skin diseases

Aliases & Classifications for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

MalaCards integrated aliases for Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum:

Name: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 24
Agenesis of Corpus Callosum with Peripheral Neuropathy 24
Agenesis of Corpus Callosum with Polyneuropathy 24
Andermann Syndrome 24
Hmsn/acc 24
Accpn 24

Classifications:



Summaries for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

MalaCards based summary : Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, also known as agenesis of corpus callosum with peripheral neuropathy, is related to agenesis of the corpus callosum with peripheral neuropathy and kuzniecky andermann syndrome. An important gene associated with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum is SLC12A6 (Solute Carrier Family 12 Member 6). Affiliated tissues include brain.

GeneReviews: NBK1372

Related Diseases for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Graphical network of the top 20 diseases related to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum:



Diseases related to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Symptoms & Phenotypes for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Drugs & Therapeutics for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Search Clinical Trials , NIH Clinical Center for Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Genetic Tests for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Anatomical Context for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

MalaCards organs/tissues related to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum:

40
Brain

Publications for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Articles related to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum:

(show all 25)
# Title Authors PMID Year
1
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. 24 61
17893295 2007
2
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. 24 61
12838516 2003
3
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. 24
16606917 2006
4
NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. 24
16048901 2005
5
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. 24
14532115 2003
6
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 24
12368912 2002
7
Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study. 24
9058066 1997
8
[Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. 24
2357646 1990
9
The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. 24
6329500 1984
10
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. 61
31439721 2020
11
A role for KCC3 in maintaining cell volume of peripheral nerve fibers. 61
29366908 2019
12
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family. 61
30038111 2018
13
KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system. 61
27568057 2016
14
KCC3 axonopathy: neuropathological features in the central and peripheral nervous system. 61
27230413 2016
15
Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum. 61
25116249 2014
16
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics. 61
23724134 2013
17
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. 61
22971091 2012
18
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. 61
22423107 2012
19
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. 61
21628467 2011
20
Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse. 61
21147077 2011
21
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. 61
18566107 2008
22
[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]. 61
18342054 2008
23
K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants. 61
17215889 2006
24
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. 61
16736723 2006
25
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 61
20301546 2006

Variations for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Expression for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

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GO Terms for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

Sources for Hereditary Motor and Sensory Neuropathy with Agenesis of the...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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29 GTR
30 HMDB
31 HPO
32 ICD10
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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