ACCPN
MCID: HRD103
MIFTS: 12

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 kuzniecky andermann syndrome and agenesis of the corpus callosum with peripheral neuropathy. 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 skin.

GeneReviews: NBK1372

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

Diseases related to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kuzniecky andermann syndrome 12.1
2 agenesis of the corpus callosum with peripheral neuropathy 11.8
3 corpus callosum, agenesis of 11.4
4 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.1
5 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 10.6
6 sensory peripheral neuropathy 10.6
7 neuropathy 10.6
8 charcot-marie-tooth disease 10.3
9 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0

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:

41
Skin

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:

# Title Authors Year
1
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. ( 30038111 )
2018
2
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. ( 21628467 )
2011
3
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. ( 12838516 )
2003
4
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum ( 20301546 )
1993

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

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

Search GEO for disease gene expression data for Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum.

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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