MCID: PRP075
MIFTS: 22

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

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

Aliases & Classifications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

MalaCards integrated aliases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

Name: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 57 75 29 13 6 73
Pnmhh 57 75
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome 59
Neuropathy, Peripheral, Myopathy, Hoarseness, and Hearing Loss 40
Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset 10.6 years
hearing loss and hoarseness occur later
one korean family has been reported (as of november 2011)


HPO:

32
peripheral neuropathy, myopathy, hoarseness, and hearing loss:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

UniProtKB/Swiss-Prot : 75 Peripheral neuropathy, myopathy, hoarseness, and hearing loss: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.

MalaCards based summary : Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss, also known as pnmhh, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and myopathy. An important gene associated with Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is MYH14 (Myosin Heavy Chain 14). Related phenotypes are tremor and peripheral neuropathy

Description from OMIM: 614369

Related Diseases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 myopathy 10.1
3 peripheral nervous system disease 10.1
4 neuropathy 10.1

Symptoms & Phenotypes for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
nerve conduction studies show mildly reduced or normal sensory values
peroneal nerves show severely reduced cmaps

Laboratory Abnormalities:
mildly increased serum creatine kinase

Head And Neck Ears:
deafness, sensorineural (45%)

Voice:
hoarseness (53%)

Skeletal Feet:
foot deformities

Muscle Soft Tissue:
degenerating fibers
endomysial fibrosis
distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)
distal muscle atrophy (lower limbs more affected than upper limbs)
proximal weakness of the lower limbs with longer disease duration
more
Neurologic Central Nervous System:
tremor (3 patients)


Clinical features from OMIM:

614369

Human phenotypes related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 peripheral neuropathy 32 HP:0009830
3 abnormality of the foot 32 HP:0001760
4 areflexia 32 HP:0001284
5 hoarse voice 32 very rare (1%) HP:0001609
6 hyporeflexia 32 HP:0001265
7 mildly elevated creatine phosphokinase 32 HP:0008180
8 distal muscle weakness 32 HP:0002460
9 distal amyotrophy 32 HP:0003693

Drugs & Therapeutics for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Search Clinical Trials , NIH Clinical Center for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Genetic Tests for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Genetic tests related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Genetic test Affiliating Genes
1 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 29 MYH14

Anatomical Context for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Publications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Articles related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Title Authors Year
1
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. ( 21480433 )
2011

Variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

UniProtKB/Swiss-Prot genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

75
# Symbol AA change Variation ID SNP ID
1 MYH14 p.Arg933Leu VAR_066338 rs113993956

ClinVar genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH14 NM_001077186.1(MYH14): c.2822G> T (p.Arg941Leu) single nucleotide variant Pathogenic rs113993956 GRCh37 Chromosome 19, 50771512: 50771512
2 MYH14 NM_001077186.1(MYH14): c.2822G> T (p.Arg941Leu) single nucleotide variant Pathogenic rs113993956 GRCh38 Chromosome 19, 50268255: 50268255
3 MYH14 NM_024729.3(MYH14): c.3727C> T (p.Arg1243Trp) single nucleotide variant Uncertain significance rs201515738 GRCh37 Chromosome 19, 50781364: 50781364
4 MYH14 NM_024729.3(MYH14): c.3727C> T (p.Arg1243Trp) single nucleotide variant Uncertain significance rs201515738 GRCh38 Chromosome 19, 50278107: 50278107
5 MYH14 NM_024729.3(MYH14): c.4918G> A (p.Glu1640Lys) single nucleotide variant Uncertain significance rs556548077 GRCh37 Chromosome 19, 50794219: 50794219
6 MYH14 NM_024729.3(MYH14): c.4918G> A (p.Glu1640Lys) single nucleotide variant Uncertain significance rs556548077 GRCh38 Chromosome 19, 50290962: 50290962

Expression for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Search GEO for disease gene expression data for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss.

Pathways for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

GO Terms for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Sources for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

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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