MCID: NRP046
MIFTS: 23

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 57 29 6
Hereditary Motor and Sensory Neuropathy with Hearing Loss, Intellectual Disability and Absent Sensory Large Myelinated Fibers 58
Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers 58
Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome 58
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome 58
Cmt-Deafness-Intellectual Disability Syndrome 58
Deafness with Charcot-Marie-Tooth Disease 57
Charcot-Marie-Tooth Disease and Deafness 57

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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 hearing loss, intellectual disability and absent sensory large myelinated fibers, is related to charcot-marie-tooth disease and deafness and branchiootic syndrome 1. An important gene associated with Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers is GJB1 (Gap Junction Protein Beta 1). Related phenotypes are intellectual disability, mild and decreased nerve conduction velocity

More information 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:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 11.8
2 branchiootic syndrome 1 10.4
3 charcot-marie-tooth disease 10.4
4 tooth disease 10.4
5 trigeminal neuralgia 10.2
6 deafness, autosomal recessive 3 10.2
7 autosomal recessive nonsyndromic deafness 3 10.2
8 neuropathy 10.2

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:

58 31 (showing 33, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
3 severe sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008625
4 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
5 decreased amplitude of sensory action potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0007078
6 decreased number of large peripheral myelinated nerve fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003387
7 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
11 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
12 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
13 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
14 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
15 distal upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008959
16 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
17 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
18 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
19 impaired vibration sensation at ankles 58 31 frequent (33%) Frequent (79-30%) HP:0006938
20 amyotrophy of ankle musculature 58 31 frequent (33%) Frequent (79-30%) HP:0009031
21 distal sensory impairment of all modalities 58 31 frequent (33%) Frequent (79-30%) HP:0003409
22 calf muscle hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008962
23 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
24 pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012531
25 areflexia of upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012046
26 intellectual disability 31 HP:0001249
27 sensorineural hearing impairment 31 HP:0000407
28 abnormality of peripheral nerve conduction 58 Frequent (79-30%)
29 peripheral neuropathy 31 HP:0009830
30 lower limb amyotrophy 58 Very frequent (99-80%)
31 areflexia of lower limbs 58 Frequent (79-30%)
32 upper limb amyotrophy 58 Frequent (79-30%)
33 axonal degeneration 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Ears:
sensorineural deafness

Neuro:
neuropathy

Clinical features from OMIM®:

214370 (Updated 05-Apr-2021)

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...

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

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 29

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:

(showing 4, show less)
# Title Authors PMID Year
1
Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity. 57
9475604 1998
2
Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. 57
1506851 1992
3
Autosomal recessive inheritance of Charcot-Marie-Tooth disease associated with sensorineural deafness. 57
6705250 1984
4
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. 61
12578939 2003

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

ClinVar genetic disease variations for Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB1 NM_000166.6(GJB1):c.30C>T (p.Leu10=) SNV Likely benign 637426 rs183702021 GRCh37: X:70443587-70443587
GRCh38: X:71223737-71223737

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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