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 25
Agenesis of Corpus Callosum with Peripheral Neuropathy 25
Andermann Syndrome 25
Accpn 25

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).

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...

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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 46)
# Title Authors PMID Year
1
KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system. 61 25
27568057 2016
2
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. 25 61
17893295 2007
3
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. 25 61
16606917 2006
4
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. 61 25
12838516 2003
5
The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. 61 25
6329500 1984
6
A role for KCC3 in maintaining cell volume of peripheral nerve fibers. 25
29366908 2019
7
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
8
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
9
The KCC3 cotransporter as a therapeutic target for peripheral neuropathy. 25
28019725 2017
10
KCC3 axonopathy: neuropathological features in the central and peripheral nervous system. 25
27230413 2016
11
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 25
26392352 2015
12
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. 25
22423107 2012
13
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 25
12368912 2002
14
[Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. 25
2357646 1990
15
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy. 61
33323309 2021
16
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum. 61
32765936 2020
17
Report of Two Siblings with Andermann Syndrome. 61
32052274 2020
18
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. 61
31439721 2020
19
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. 61
31160700 2019
20
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. 61
30868738 2019
21
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy. 61
29269506 2018
22
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
23
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. 61
28419508 2018
24
Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3). 61
28814402 2017
25
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. 61
28647557 2017
26
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? 61
24341143 2013
27
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics. 61
23724134 2013
28
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. 61
22971091 2012
29
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. 61
22462673 2012
30
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
31
Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse. 61
21147077 2011
32
Mutations affecting GABAergic signaling in seizures and epilepsy. 61
20352446 2010
33
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. 61
20020398 2009
34
Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. 61
18536702 2009
35
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. 61
18566107 2008
36
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3. 61
16424367 2006
37
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 61
20301546 2006
38
Andermann syndrome in a Turkish patient. 61
12661946 2003
39
Do we consider Andermann syndrome in infants with agenesis of corpus callosum. 61
12872822 2003
40
[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity]. 61
11885521 2001
41
[Andermann syndrome: presentation of a case]. 61
9280642 1997
42
Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study. 61
9058066 1997
43
Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. 61
8141196 1994
44
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. 61
8232787 1993
45
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. 61
8292134 1993
46
Corpus callosum agenesis and psychosis in Andermann syndrome. 61
1668979 1991

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
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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