MCID: HRD103
MIFTS: 12

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

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
Agenesis of Corpus Callosum with Polyneuropathy 25
Andermann Syndrome 25
Hmsn/acc 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). 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 agenesis of the corpus callosum with peripheral neuropathy 12.2
2 kuzniecky andermann syndrome 12.1
3 corpus callosum, agenesis of 11.5
4 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.1
5 charcot-marie-tooth disease 10.6
6 sensory peripheral neuropathy 10.6
7 neuropathy 10.6
8 aplasia cutis congenita, nonsyndromic 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:

42
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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