PNMHH
MCID: PRP075
MIFTS: 24

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (PNMHH)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal 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 58 76 30 13 6 74
Pnmhh 58 76
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome 60
Neuropathy, Peripheral, Myopathy, Hoarseness, and Hearing Loss 41
Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
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 : 76 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 muscle disorders. An important gene associated with Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is MYH14 (Myosin Heavy Chain 14). Affiliated tissues include skeletal muscle, and related phenotypes are peripheral neuropathy and decreased nerve conduction velocity

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 10.2
2 muscle disorders 10.2
3 myopathy 10.2
4 peripheral nervous system disease 10.2
5 neuropathy 10.2

Graphical network of the top 20 diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:



Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

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

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

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
2 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
3 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
4 hoarse voice 60 33 very rare (1%) Frequent (79-30%) HP:0001609
5 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
6 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
7 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
8 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
9 structural foot deformity 60 33 frequent (33%) Frequent (79-30%) HP:0010219
10 progressive distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009063
11 fatty replacement of skeletal muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012548
12 mitochondrial swelling 60 33 frequent (33%) Frequent (79-30%) HP:0030774
13 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
14 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
15 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
16 proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003701
17 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
18 arthritis 60 33 very rare (1%) Very rare (<4-1%) HP:0001369
19 dysphagia 60 Excluded (0%)
20 myopathy 60 Frequent (79-30%)
21 abnormality of the foot 33 HP:0001760
22 vocal cord paralysis 60 Excluded (0%)
23 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
24 distal muscle weakness 33 HP:0002460
25 distal amyotrophy 33 HP:0003693

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MYH14

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

MalaCards organs/tissues related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

42
Skeletal Muscle

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:

76
# 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
7 MYH14 NM_001145809.1(MYH14): c.1979G> A (p.Gly660Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 50255253: 50255253
8 MYH14 NM_001145809.1(MYH14): c.1979G> A (p.Gly660Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 50758510: 50758510

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 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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