HMSNO
MCID: NRP009
MIFTS: 30

Neuropathy, Hereditary Motor and Sensory, Okinawa Type (HMSNO)

Categories: Genetic diseases, Neuronal diseases, Rare 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 56 52 73 29 6 71
Hereditary Motor and Sensory Neuropathy, Proximal Type 52 58 73 13
Hmsno 56 52 73
Hmsnp 52 58 73
Hereditary Motor and Sensory Neuropathy, Okinawa Type 56 58
Hereditary Motor and Sensory Neuropathy, Proximal Type, Formerly; Hmsnp, Formerly 56
Hereditary Motor and Sensory Neuropathy, Proximal Type, Formerly 56
Neuropathy, Motor and Sensory, Hereditary, Okinawa Type 39
Hereditary Motor and Sensory Neuropathy Okinawa 73
Hmsnp, Formerly 56

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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

Inheritance:
autosomal dominant


HPO:

31
neuropathy, hereditary motor and sensory, okinawa type:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 604484
MeSH 43 D015417
MESH via Orphanet 44 C535717
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1858338
Orphanet 58 ORPHA90117
MedGen 41 C1858338
UMLS 71 C1858338

Summaries for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90117 Definition Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. Visit the Orphanet disease page for more resources.

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 (Trafficking From ER To Golgi Regulator). Affiliated tissues include spinal cord and dorsal root ganglion, and related phenotypes are hand tremor and gait disturbance

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 11.7

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hand tremor 31 occasional (7.5%) HP:0002378
2 gait disturbance 31 HP:0001288
3 tetraplegia 31 HP:0002445
4 areflexia 31 HP:0001284
5 sensory neuropathy 31 HP:0000763
6 peripheral neuropathy 31 HP:0009830
7 hyperlipidemia 31 HP:0003077
8 fasciculations 31 HP:0002380
9 proximal muscle weakness 31 HP:0003701
10 proximal amyotrophy 31 HP:0007126
11 gliosis 31 HP:0002171
12 distal sensory impairment 31 HP:0002936
13 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
14 degeneration of anterior horn cells 31 HP:0002398
15 axonal degeneration 31 HP:0040078
16 muscle spasm 31 HP:0003394
17 mildly elevated creatine kinase 31 HP:0008180

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Spinal Cord, Dorsal Root Ganglion

Publications for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

Articles related to Neuropathy, Hereditary Motor and Sensory, Okinawa Type:

# Title Authors PMID Year
1
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. 56 6
25098539 2014
2
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. 56 6
23553329 2013
3
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. 56 6
22883144 2012
4
Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy. 56
21836032 2011
5
Autosomal dominant HMSN with proximal involvement: new Brazilian cases. 56
19838524 2009
6
Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry. 56
17764830 2007
7
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. 56
17906970 2007
8
Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. 56
10545038 1999
9
A new type of hereditary motor and sensory neuropathy linked to chromosome 3. 56
9189038 1997
10
[History of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)]. 61
24291927 2013

Variations for Neuropathy, Hereditary Motor and Sensory, Okinawa Type

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

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFG NM_006070.6(TFG):c.806G>T (p.Gly269Val)SNV Pathogenic 156445 rs587777789 3:100463761-100463761 3:100744917-100744917
2 TFG NM_006070.6(TFG):c.854C>T (p.Pro285Leu)SNV Pathogenic 37089 rs207482230 3:100467026-100467026 3:100748182-100748182
3 TFG NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)SNV Uncertain significance 234835 rs371681149 3:100467178-100467178 3:100748334-100748334
4 TFG NM_006070.6(TFG):c.391C>T (p.Pro131Ser)SNV Uncertain significance 466408 rs770053266 3:100447678-100447678 3:100728834-100728834
5 TFG NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)SNV Uncertain significance 466402 rs1553704923 3:100467186-100467186 3:100748342-100748342
6 TFG NM_006070.6(TFG):c.980A>G (p.Gln327Arg)SNV Uncertain significance 466411 rs1431898500 3:100467152-100467152 3:100748308-100748308
7 TFG NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)SNV Uncertain significance 466403 rs1375662436 3:100467242-100467242 3:100748398-100748398
8 TFG NM_006070.6(TFG):c.944C>T (p.Pro315Leu)SNV Uncertain significance 534741 rs753375115 3:100467116-100467116 3:100748272-100748272
9 TFG NM_006070.6(TFG):c.309A>G (p.Lys103=)SNV Uncertain significance 534747 rs369508900 3:100447596-100447596 3:100728752-100728752
10 TFG NM_006070.6(TFG):c.1094C>T (p.Ser365Leu)SNV Uncertain significance 534740 rs1288104441 3:100467266-100467266 3:100748422-100748422
11 TFG NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)SNV Uncertain significance 534742 rs1234073129 3:100467295-100467295 3:100748451-100748451
12 TFG NM_006070.6(TFG):c.1145C>T (p.Ala382Val)SNV Uncertain significance 534744 rs138185005 3:100467317-100467317 3:100748473-100748473
13 TFG NM_006070.6(TFG):c.483G>A (p.Met161Ile)SNV Uncertain significance 534743 rs750964585 3:100451419-100451419 3:100732575-100732575
14 TFG NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)SNV Uncertain significance 534745 rs766049461 3:100467329-100467329 3:100748485-100748485
15 TFG NM_006070.6(TFG):c.943C>T (p.Pro315Ser)SNV Uncertain significance 534746 rs1553704852 3:100467115-100467115 3:100748271-100748271
16 TFG NM_006070.6(TFG):c.68G>A (p.Arg23Gln)SNV Uncertain significance 579063 rs774808090 3:100432597-100432597 3:100713753-100713753
17 TFG NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)SNV Uncertain significance 581697 rs763523148 3:100432627-100432627 3:100713783-100713783
18 TFG NM_006070.6(TFG):c.310T>C (p.Tyr104His)SNV Uncertain significance 582975 rs775608477 3:100447597-100447597 3:100728753-100728753
19 TFG NM_006070.6(TFG):c.716T>C (p.Ile239Thr)SNV Uncertain significance 568023 rs146004809 3:100455555-100455555 3:100736711-100736711
20 TFG NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)SNV Uncertain significance 574710 rs1559723912 3:100463695-100463695 3:100744851-100744851
21 TFG NM_006070.6(TFG):c.826T>C (p.Tyr276His)SNV Uncertain significance 576156 rs1559726842 3:100466998-100466998 3:100748154-100748154
22 TFG NM_006070.6(TFG):c.852A>C (p.Gln284His)SNV Uncertain significance 569604 rs1559726965 3:100467024-100467024 3:100748180-100748180
23 TFG NM_006070.6(TFG):c.882A>C (p.Gln294His)SNV Uncertain significance 575628 rs751393611 3:100467054-100467054 3:100748210-100748210
24 TFG NM_006070.6(TFG):c.237G>T (p.Gln79His)SNV Uncertain significance 658735 3:100438871-100438871 3:100720027-100720027
25 TFG NM_006070.6(TFG):c.290T>A (p.Leu97His)SNV Uncertain significance 648724 3:100447577-100447577 3:100728733-100728733
26 TFG NM_006070.6(TFG):c.458C>T (p.Ser153Phe)SNV Uncertain significance 646590 3:100451394-100451394 3:100732550-100732550
27 TFG NM_006070.6(TFG):c.482T>C (p.Met161Thr)SNV Uncertain significance 651133 3:100451418-100451418 3:100732574-100732574
28 TFG NM_006070.6(TFG):c.545T>C (p.Met182Thr)SNV Uncertain significance 663351 3:100451481-100451481 3:100732637-100732637
29 TFG NM_006070.6(TFG):c.743A>G (p.Gln248Arg)SNV Uncertain significance 662929 3:100463698-100463698 3:100744854-100744854
30 TFG NM_006070.6(TFG):c.754G>A (p.Gly252Ser)SNV Uncertain significance 663659 3:100463709-100463709 3:100744865-100744865
31 TFG NM_006070.6(TFG):c.792G>T (p.Gln264His)SNV Uncertain significance 664913 3:100463747-100463747 3:100744903-100744903
32 TFG NM_006070.6(TFG):c.898C>T (p.Pro300Ser)SNV Uncertain significance 643529 3:100467070-100467070 3:100748226-100748226
33 TFG NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)SNV Uncertain significance 647551 3:100467202-100467202 3:100748358-100748358
34 TFG NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)SNV Uncertain significance 640949 3:100467208-100467208 3:100748364-100748364
35 TFG NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)SNV Uncertain significance 645167 3:100467337-100467337 3:100748493-100748493
36 TFG NM_006070.6(TFG):c.672A>C (p.Pro224=)SNV Likely benign 534748 rs141412018 3:100455511-100455511 3:100736667-100736667
37 TFG duplication Likely benign 466401 3:100713666-100720078
38 TFG NM_006070.6(TFG):c.722-8G>TSNV Benign 378722 rs41272979 3:100463669-100463669 3:100744825-100744825
39 TFG NM_006070.6(TFG):c.552G>A (p.Ala184=)SNV Benign 378720 rs35648279 3:100451488-100451488 3:100732644-100732644
40 TFG NM_006070.6(TFG):c.302A>G (p.Gln101Arg)SNV not provided 684501 3:100447589-100447589 3:100728745-100728745

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

73
# Symbol AA change Variation ID SNP ID
1 TFG p.Pro285Leu VAR_068917 rs207482230

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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