MCID: NRP046
MIFTS: 19

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
Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers 59
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome 59
Deafness with Charcot-Marie-Tooth Disease 57
Charcot-Marie-Tooth Disease and Deafness 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 214370
Orphanet 59 ORPHA90103
ICD10 via Orphanet 34 G60.0
MedGen 42 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. An important gene associated with Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers is PMP22 (Peripheral Myelin Protein 22). 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...

Symptoms via clinical synopsis from OMIM:

57
Ears:
sensorineural deafness

Neuro:
neuropathy


Clinical features from OMIM:

214370

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 sensorineural hearing impairment 32 HP:0000407
3 peripheral neuropathy 32 HP:0009830

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...

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
2 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh38 Chromosome 17, 15239591: 15239591
3 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh37 Chromosome 17, 15162507: 15162507
4 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh38 Chromosome 17, 15259190: 15259190
5 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh38 Chromosome 17, 15231045: 15231056
6 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh37 Chromosome 17, 15134362: 15134373
7 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh37 Chromosome 17, 15134248: 15134248
8 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh38 Chromosome 17, 15230931: 15230931
9 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
10 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh38 Chromosome 17, 15259155: 15259155
11 PMP22 NM_000304.3(PMP22): c.449G> T (p.Gly150Val) single nucleotide variant Pathogenic rs879253954 GRCh37 Chromosome 17, 15134268: 15134268
12 PMP22 NM_000304.3(PMP22): c.449G> T (p.Gly150Val) single nucleotide variant Pathogenic rs879253954 GRCh38 Chromosome 17, 15230951: 15230951

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...

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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