MCID: NRP009
MIFTS: 24

Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

MalaCards integrated aliases for Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

Name: Neuropathy, Hereditary Motor and Sensory, Okinawa Type 57 53 75 29 6 73
Hereditary Motor and Sensory Neuropathy, Proximal Type 53 59 75 13
Hmsno 57 53 75
Hmsnp 53 59 75
Hereditary Motor and Sensory Neuropathy, Okinawa Type 57 59
Hereditary Motor and Sensory Neuropathy, Proximal Type, Formerly; Hmsnp, Formerly 57
Hereditary Motor and Sensory Neuropathy, Proximal Type, Formerly 57
Neuropathy, Motor and Sensory, Hereditary, Okinawa Type 40
Hereditary Motor and Sensory Neuropathy Okinawa 75
Hmsnp, Formerly 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
adult onset (27 to 48 years)
some patients may become bedridden 10 to 20 years after onset
prevalent among individuals of east asian descent


HPO:

32
neuropathy, hereditary motor and sensory, okinawa type:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604484
Orphanet 59 ORPHA90117
MESH via Orphanet 45 C535717
UMLS via Orphanet 74 C1858338
ICD10 via Orphanet 34 G60.0
MedGen 42 C1858338
MeSH 44 D015417
UMLS 73 C1858338

Summaries for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

OMIM : 57 HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis (ALS; 105400) (summary by Ishiura et al., 2012). (604484)

MalaCards based summary : Neuropathy, Hereditary Motor and Sensory, Okinawa Type, also known as hereditary motor and sensory neuropathy, proximal type, is related to charcot-marie-tooth disease, axonal, type 2e, and has symptoms including muscular fasciculation An important gene associated with Neuropathy, Hereditary Motor and Sensory, Okinawa Type is TFG (TRK-Fused Gene). Affiliated tissues include spinal cord and dorsal root ganglion, and related phenotypes are sensory neuropathy and gait disturbance

UniProtKB/Swiss-Prot : 75 Neuropathy, hereditary motor and sensory, Okinawa type: A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis.

Related Diseases for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Diseases related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 11.4

Symptoms & Phenotypes for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
gait disturbance
gliosis
loss of anterior horn cells
bulbar symptoms may occur (less common)
hand tremor (in some patients)
more
Muscle Soft Tissue:
fasciculations
muscle weakness and atrophy, proximal
muscle weakness and atrophy, distal
painful muscle cramps
neurogenic changes seen on emg and biopsy
more
Laboratory Abnormalities:
hyperlipidemia
mildly increased serum creatine kinase

Neurologic Peripheral Nervous System:
distal sensory loss
hypo- or areflexia
loss of myelinated fibers
axonal motor and sensory neuropathy
mild loss of touch and temperature
more

Clinical features from OMIM:

604484

Human phenotypes related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensory neuropathy 32 HP:0000763
2 gait disturbance 32 HP:0001288
3 gliosis 32 HP:0002171
4 hand tremor 32 occasional (7.5%) HP:0002378
5 fasciculations 32 HP:0002380
6 degeneration of anterior horn cells 32 HP:0002398
7 tetraplegia 32 HP:0002445
8 distal sensory impairment 32 HP:0002936
9 hyperlipidemia 32 HP:0003077
10 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
11 proximal muscle weakness 32 HP:0003701
12 proximal amyotrophy 32 HP:0007126
13 mildly elevated creatine phosphokinase 32 HP:0008180
14 peripheral neuropathy 32 HP:0009830

UMLS symptoms related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type:


muscular fasciculation

Drugs & Therapeutics for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Genetic Tests for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Genetic tests related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 29 TFG

Anatomical Context for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

MalaCards organs/tissues related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

41
Spinal Cord, Dorsal Root Ganglion

Publications for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Variations for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

75
# Symbol AA change Variation ID SNP ID
1 TFG p.Pro285Leu VAR_068917 rs207482230

ClinVar genetic disease variations for Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

6
(show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh37 Chromosome 3, 100467026: 100467026
2 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh38 Chromosome 3, 100748182: 100748182
3 TFG NM_001007565.2(TFG): c.806G> T (p.Gly269Val) single nucleotide variant Pathogenic rs587777789 GRCh38 Chromosome 3, 100744917: 100744917
4 TFG NM_001007565.2(TFG): c.806G> T (p.Gly269Val) single nucleotide variant Pathogenic rs587777789 GRCh37 Chromosome 3, 100463761: 100463761
5 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh37 Chromosome 3, 100467232: 100467232
6 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh38 Chromosome 3, 100748388: 100748388
7 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh37 Chromosome 3, 100438892: 100438892
8 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh38 Chromosome 3, 100720048: 100720048
9 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh37 Chromosome 3, 100455502: 100455502
10 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh38 Chromosome 3, 100736658: 100736658
11 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh37 Chromosome 3, 100463669: 100463669
12 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh38 Chromosome 3, 100744825: 100744825
13 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh37 Chromosome 3, 100467117: 100467117
14 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh38 Chromosome 3, 100748273: 100748273
15 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh37 Chromosome 3, 100451343: 100451343
16 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh38 Chromosome 3, 100732499: 100732499
17 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh37 Chromosome 3, 100451488: 100451488
18 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh38 Chromosome 3, 100732644: 100732644
19 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh38 Chromosome 3, 100728834: 100728834
20 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh37 Chromosome 3, 100447678: 100447678
21 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh38 Chromosome 3, 100736589: 100736589
22 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh37 Chromosome 3, 100455433: 100455433
23 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748342: 100748342
24 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467186: 100467186
25 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh38 Chromosome 3, 100728865: 100728865
26 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh37 Chromosome 3, 100447709: 100447709
27 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467152: 100467152
28 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748308: 100748308
29 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467242: 100467242
30 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748398: 100748398
31 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh38 Chromosome 3, 100720015: 100720015
32 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh37 Chromosome 3, 100438859: 100438859
33 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh38 Chromosome 3, 100748316: 100748316
34 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh37 Chromosome 3, 100467160: 100467160
35 TFG NC_000003.12: g.(?_100713666)_(100720078_?)dup duplication Likely benign GRCh38 Chromosome 3, 100713666: 100720078
36 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
37 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
38 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
39 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
40 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh38 Chromosome 3, 100748418: 100748418
41 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh37 Chromosome 3, 100467262: 100467262
42 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh37 Chromosome 3, 100467116: 100467116
43 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh38 Chromosome 3, 100748272: 100748272
44 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh37 Chromosome 3, 100447596: 100447596
45 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh38 Chromosome 3, 100728752: 100728752
46 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh37 Chromosome 3, 100455511: 100455511
47 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh38 Chromosome 3, 100736667: 100736667
48 TFG NM_006070.5(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467266: 100467266
49 TFG NM_006070.5(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 100748422: 100748422
50 TFG NM_006070.5(TFG): c.1123C> G (p.Pro375Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 100467295: 100467295

Expression for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Search GEO for disease gene expression data for Neuropathy, Hereditary Motor and Sensory, Okinawa Type.

Pathways for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

GO Terms for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Sources for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

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74 UMLS via Orphanet
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