MCID: NRP046
MIFTS: 18

Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers

Categories: Ear diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

MalaCards integrated aliases for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers:

Name: Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 58
Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers 60
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome 60
Deafness with Charcot-Marie-Tooth Disease 58
Charcot-Marie-Tooth Disease and Deafness 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 214370
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA90103
MedGen 43 C1861669

Summaries for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

MalaCards based summary : Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers, also known as hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease. Related phenotypes are intellectual disability and sensorineural hearing impairment

Description from OMIM: 214370

Related Diseases for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Diseases related to Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 12.8
2 charcot-marie-tooth disease 10.5
3 tooth disease 10.5
4 trigeminal neuralgia 10.3
5 neuropathy 10.3

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers:



Diseases related to Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers

Symptoms & Phenotypes for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Human phenotypes related to Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 sensorineural hearing impairment 33 HP:0000407
3 peripheral neuropathy 33 HP:0009830

Symptoms via clinical synopsis from OMIM:

58
Ears:
sensorineural deafness

Neuro:
neuropathy

Clinical features from OMIM:

214370

Drugs & Therapeutics for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers

Genetic Tests for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Anatomical Context for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Publications for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Articles related to Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers:

# Title Authors Year
1
A unique point mutation in the PMP22 gene is associated with Charcot- Marie-Tooth disease and deafness. ( 10330345 )
1999
2
Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot-Marie-Tooth disease, and deafness. ( 196788 )
1977

Variations for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Expression for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Search GEO for disease gene expression data for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers.

Pathways for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

GO Terms for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

Sources for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental...

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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