DSS
MCID: HYP186
MIFTS: 51

Hypertrophic Neuropathy of Dejerine-Sottas (DSS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypertrophic Neuropathy of Dejerine-Sottas

MalaCards integrated aliases for Hypertrophic Neuropathy of Dejerine-Sottas:

Name: Hypertrophic Neuropathy of Dejerine-Sottas 56 52 73
Dejerine-Sottas Disease 56 74 36 29 13 54 6 71
Charcot-Marie-Tooth Disease Type 3 12 52 58 73 15
Dejerine-Sottas Syndrome 56 12 52 58 73
Hereditary Motor and Sensory Neuropathy Type Iii 56 52 58
Dejerine-Sottas Neuropathy 56 12 52
Hmsn Iii 52 58 73
Hmsn3 56 52 73
Dss 56 52 73
Hereditary Motor and Sensory Neuropathy Type 3 52 58
Charcot-Marie-Tooth Disease, Type 3 56 52
Hmsn 3 52 58
Cmt3 56 52
Dsn 56 52
Hereditary Motor and Sensory Neuropathy Type Iii; Hmsn3 56
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 71
Charcot-Marie-Tooth Disease Demyelinating Type 4f 73
Hereditary Motor and Sensory Neuropathy Iii 73
Charcot-Marie-Tooth Disease, Type 3; Cmt3 56
Hereditary Motor and Sensory Neuropathy 3 52
Neuropathy, Hypertrophic, Dejerine-Sottas 39
Charcot-Marie-Tooth Neuropathy Type 4f 73
Charcot-Marie-Tooth Disease Type 4f 73
Hypertrophic Neuropathy of Infancy 52
Dejerine-Sottas Neuropathy; Dsn 56
Dejerine-Sottas Syndrome; Dss 56
Cmt4f 73

Characteristics:

Orphanet epidemiological data:

58
dejerine-sottas syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity
usually begins in feet and legs (peroneal distribution)
onset in infancy or early childhood
upper limb involvement occur later
clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, ), but much more severe phenotype
clinical overlap with congenital hypomyelinating neuropathy (chn, )


HPO:

31
hypertrophic neuropathy of dejerine-sottas:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050540
OMIM 56 145900
OMIM Phenotypic Series 56 PS118220
KEGG 36 H02359
MeSH 43 D015417
MESH via Orphanet 44 C538392
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0011195
Orphanet 58 ORPHA64748
UMLS 71 C0011195 C3540453

Summaries for Hypertrophic Neuropathy of Dejerine-Sottas

NIH Rare Diseases : 52 Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome ) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4. Dejerine-Sottas syndrome has been associated with mutations in the MPZ , PMP22 , EGR2 , and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.

MalaCards based summary : Hypertrophic Neuropathy of Dejerine-Sottas, also known as dejerine-sottas disease, is related to charcot-marie-tooth disease, demyelinating, type 4f and hereditary neuropathies, and has symptoms including ataxia, sensory An important gene associated with Hypertrophic Neuropathy of Dejerine-Sottas is MPZ (Myelin Protein Zero), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include heart, liver and t cells, and related phenotypes are nystagmus and muscular hypotonia

Disease Ontology : 12 A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.

OMIM : 56 Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011). (145900)

KEGG : 36 Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction velocities and elevated CSF protein. Progression is severe and walking ability is lost early. Hypomyelination and classic onion bulbs are the pathological hallmarks. Mutations in MPZ, PMP22, EGR2, and PRX are the most common causes of DSD. In more than 50% of cases, a causative genetic mutation cannot be identified.

UniProtKB/Swiss-Prot : 73 Dejerine-Sottas syndrome: A severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.

Wikipedia : 74 Dejerine-Sottas disease, also known as, Dejerine-Sottas neuropathy, progressive hypertrophic... more...

Related Diseases for Hypertrophic Neuropathy of Dejerine-Sottas

Diseases related to Hypertrophic Neuropathy of Dejerine-Sottas via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 4f 31.8 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
2 hereditary neuropathies 31.3 PRX PMP22 MTMR2 MPZ MFN2 GJB1
3 roussy-levy hereditary areflexic dystasia 31.2 PMP22 MPZ
4 charcot-marie-tooth disease 30.5 TSPAN4 SULT2B1 SH3TC2 SBF2 PRX PMP22
5 polyneuropathy 30.4 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.3 SULT2B1 SH3TC2 SBF2 PRX PMP22 PES1
7 charcot-marie-tooth disease, type 4d 30.2 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
8 neuropathy 30.2 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
9 charcot-marie-tooth disease, demyelinating, type 1d 29.9 SULT2B1 PRX PMP22 NAB1 MTMR2 MPZ
10 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 29.8 SH3TC2 PRX PMP22 NEFL MPZ MFN2
11 tooth disease 29.4 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
12 sensory peripheral neuropathy 29.4 SH3TC2 SBF2 PRX PMP22 PES1 MTMR2
13 peripheral nervous system disease 29.3 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
14 charcot-marie-tooth disease, demyelinating, type 1b 29.2 SULT2B1 SH3TC2 SBF2 PRX PMP22 PES1
15 neuropathy, hereditary, with liability to pressure palsies 29.0 TSPAN4 SH3TC2 SBF2 PRX PMP22 PES1
16 charcot-marie-tooth disease, demyelinating, type 1a 29.0 TSPAN4 SH3TC2 SBF2 PRX PMP22 PES1
17 neuromuscular disease 29.0 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
18 charcot-marie-tooth disease, x-linked recessive, 3 11.9
19 dengue disease 11.9
20 neuropathy, congenital hypomyelinating, 2 11.7
21 dengue shock syndrome 11.6
22 dengue virus 11.5
23 46,xy sex reversal 2 11.5
24 hereditary motor and sensory neuropathy v 11.4
25 colitis 11.2
26 inflammatory bowel disease 11.0
27 ulcerative colitis 10.9
28 foot drop 10.6 PMP22 MPZ
29 charcot-marie-tooth disease type 2a 10.6 MFN2 KIF1B
30 colorectal cancer 10.5
31 chronic polyneuropathy 10.5 PMP22 GJB1
32 charcot-marie-tooth disease, dominant intermediate d 10.5 MPZ KIF1B
33 peroneal nerve paralysis 10.5 PMP22 PES1
34 autoimmune peripheral neuropathy 10.5 MPZ GJB1
35 early-onset glaucoma 10.5 SBF2 MTMR2
36 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.5 MPZ GJB1 EGR2
37 argyll robertson pupil 10.5 PES1 MPZ GDAP1
38 pupil disease 10.5 PES1 MPZ GDAP1
39 charcot-marie-tooth disease x-linked recessive 4 10.5 PES1 MPZ GJB1
40 autoimmune disease 10.5
41 diarrhea 10.5
42 charcot-marie-tooth neuropathy type 2a 10.5 MFN2 KIF1B
43 neuropathy, hereditary motor and sensory, russe type 10.5 SH3TC2 GDAP1 EGR2
44 neuropathy, hereditary sensory and autonomic, type ic 10.5 SH3TC2 LITAF
45 amyotrophic neuralgia 10.5 PMP22 MPZ
46 sciatic neuropathy 10.5 SH3TC2 PMP22 PES1
47 mononeuritis of lower limb 10.4 SH3TC2 PMP22 PES1
48 carpal tunnel syndrome 10.4 SH3TC2 PMP22 MPZ
49 lesion of sciatic nerve 10.4 SH3TC2 PMP22 PES1
50 charcot-marie-tooth disease, type 4k 10.4 SH3TC2 LITAF

Graphical network of the top 20 diseases related to Hypertrophic Neuropathy of Dejerine-Sottas:



Diseases related to Hypertrophic Neuropathy of Dejerine-Sottas

Symptoms & Phenotypes for Hypertrophic Neuropathy of Dejerine-Sottas

Human phenotypes related to Hypertrophic Neuropathy of Dejerine-Sottas:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 muscular hypotonia 31 HP:0001252
3 generalized hypotonia 31 HP:0001290
4 areflexia 31 HP:0001284
5 pes cavus 31 HP:0001761
6 decreased motor nerve conduction velocity 31 HP:0003431
7 motor delay 31 HP:0001270
8 kyphoscoliosis 31 HP:0002751
9 hyporeflexia 31 HP:0001265
10 split hand 31 HP:0001171
11 distal amyotrophy 31 HP:0003693
12 foot dorsiflexor weakness 31 HP:0009027
13 hammertoe 31 HP:0001765
14 distal muscle weakness 31 HP:0002460
15 steppage gait 31 HP:0003376
16 increased csf protein 31 HP:0002922
17 segmental peripheral demyelination/remyelination 31 HP:0003481
18 sensory ataxia 31 HP:0010871
19 distal sensory impairment 31 HP:0002936
20 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
21 hypertrophic nerve changes 31 HP:0003382
22 onion bulb formation 31 HP:0003383
23 ulnar claw 31 HP:0001178

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
increased csf protein
sensory ataxia
distal sensory impairment
more
Head And Neck Eyes:
nystagmus (in some patients)

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Hands:
claw hand deformities (in severe cases)

Clinical features from OMIM:

145900

UMLS symptoms related to Hypertrophic Neuropathy of Dejerine-Sottas:


ataxia, sensory

GenomeRNAi Phenotypes related to Hypertrophic Neuropathy of Dejerine-Sottas according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 GJB1
2 Decreased viability GR00381-A-1 10.1 FGD4 MPZ NAB1 PES1 PRX SH3TC2
3 Decreased viability GR00381-A-3 10.1 MPZ
4 Decreased viability GR00402-S-2 10.1 ATAD2 DRP2 EGR2 FGD4 GDAP1 GJB1
5 no effect GR00402-S-1 9.62 ATAD2 DRP2 EGR2 FGD4 GDAP1 GJB1

MGI Mouse Phenotypes related to Hypertrophic Neuropathy of Dejerine-Sottas:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 EGR2 FGD4 GDAP1 GJB1 KIF1B MFN2
2 nervous system MP:0003631 9.53 DRP2 EGR2 FGD4 GDAP1 GJB1 KIF1B

Drugs & Therapeutics for Hypertrophic Neuropathy of Dejerine-Sottas

Search Clinical Trials , NIH Clinical Center for Hypertrophic Neuropathy of Dejerine-Sottas

Genetic Tests for Hypertrophic Neuropathy of Dejerine-Sottas

Genetic tests related to Hypertrophic Neuropathy of Dejerine-Sottas:

# Genetic test Affiliating Genes
1 Dejerine-Sottas Disease 29 EGR2 MPZ PMP22 PRX

Anatomical Context for Hypertrophic Neuropathy of Dejerine-Sottas

MalaCards organs/tissues related to Hypertrophic Neuropathy of Dejerine-Sottas:

40
Heart, Liver, T Cells, Brain, Spinal Cord, Colon, Myeloid

Publications for Hypertrophic Neuropathy of Dejerine-Sottas

Articles related to Hypertrophic Neuropathy of Dejerine-Sottas:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 54 61 56 6
18698610 2008
2
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. 54 61 56 6
10211478 1999
3
Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 54 56 6
11133365 2001
4
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 56 6
15947997 2005
5
Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 56 6
12112076 2002
6
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). 54 61 56
7506095 1993
7
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 54 56
11523566 2001
8
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. 54 56
10371530 1999
9
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 54 56
8275092 1993
10
Trembler mouse carries a point mutation in a myelin gene. 54 56
1552943 1992
11
Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: preliminary report of a lipid abnormality in nerve and liver in Dejerine-Sottas disease. 61 56
4314714 1970
12
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 56
21840889 2011
13
Neuropathy in a human without the PMP22 gene. 6
21670407 2011
14
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 6
15241803 2004
15
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 6
12439896 2002
16
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
17
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 6
8816708 1996
18
A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8. 56
8606695 1996
19
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 6
7581451 1995
20
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group. 6
8541860 1995
21
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. 6
7825607 1995
22
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. 6
8422677 1993
23
Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy. 56
187739 1976
24
Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy. 56
187740 1976
25
The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. 56
4358565 1974
26
Autosomal dominant forms of hereditary hypertrophic neuropathy. 56
4663912 1972
27
Observations on hypertrophic neuropathy of Dejerine and Sottas. 56
13861139 1962
28
Familial chronic hypertrophic polyneuropathy with paralysis of the extremities in cold weather. 56
13717926 1960
29
Familial hypertrophic polyneuritis; review of a previously reported family. 56
13418976 1957
30
Observations on the syndrome of hypertrophic neuritis (the hypertrophic interstitial radiculo-neuropathies). 56
13368964 1956
31
A family with the progressive hypertrophic polyneuritis of Dejerine and Sottas. 56
13320157 1956
32
New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype. 54 61
17143884 2007
33
Marked phenotypic variation in a family with a new myelin protein zero mutation. 54 61
16198109 2005
34
Genetic evaluation of inherited motor/sensory neuropathy. 54 61
16106622 2004
35
Molecular basis of hereditary neuropathies. 54 61
11345007 2001
36
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. 54 61
10663978 2000
37
Inherited neuropathies: from gene to disease. 54 61
10219749 1999
38
Inherited peripheral neuropathy. 54 61
10716658 1999
39
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 54 61
9595994 1998
40
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. 54 61
9544841 1998
41
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. 54 61
9004143 1996
42
[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. 54 61
8914454 1996
43
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. 54 61
7675244 1995
44
Inherited neuropathies. 54 61
7804455 1994
45
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. 54 61
7952853 1994
46
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. 54 61
7849745 1994
47
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. 61
29670817 2018
48
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse. 61
23313019 2013
49
Therapeutic roles of curcumin: lessons learned from clinical trials. 61
23143785 2013
50
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 61
22847150 2012

Variations for Hypertrophic Neuropathy of Dejerine-Sottas

ClinVar genetic disease variations for Hypertrophic Neuropathy of Dejerine-Sottas:

6 (show top 50) (show all 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMP22 NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)SNV Pathogenic 234605 rs775019409 17:15134270-15134270 17:15230953-15230953
2 PRX NM_020956.2(PRX):c.*3413C>TSNV Pathogenic 4794 rs104894708 19:40901051-40901051 19:40395144-40395144
3 PMP22 NM_000304.4(PMP22):c.36C>A (p.His12Gln)SNV Pathogenic 8434 rs104894622 17:15164009-15164009 17:15260692-15260692
4 GJB1 NM_000166.6(GJB1):c.407T>C (p.Val136Ala)SNV Pathogenic 10451 rs104894826 X:70443964-70443964 X:71224114-71224114
5 MPZ NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)SNV Pathogenic 14169 rs121913585 1:161277094-161277094 1:161307304-161307304
6 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)SNV Pathogenic 14170 rs121913586 1:161276204-161276204 1:161306414-161306414
7 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met)SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785
8 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)SNV Pathogenic 14191 rs121913603 1:161276512-161276512 1:161306722-161306722
9 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563
10 PMP22 NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)SNV Pathogenic 245805 rs879253954 17:15134268-15134268 17:15230951-15230951
11 PRX NM_020956.2(PRX):c.*1379C>TSNV Pathogenic 245870 rs773009397 19:40903085-40903085 19:40397178-40397178
12 PMP22 NM_000304.4(PMP22):c.449G>T (p.Gly150Val)SNV Pathogenic 433198 rs879253954 17:15134268-15134268 17:15230951-15230951
13 PRX NM_020956.2(PRX):c.*1217deldeletion Pathogenic 433553 rs1555801290 19:40903247-40903247 19:40397340-40397340
14 MPZ NM_000530.8(MPZ):c.411C>T (p.Gly137=)SNV Pathogenic 577671 rs1558153994 1:161276535-161276535 1:161306745-161306745
15 MPZ NM_000530.8(MPZ):c.558del (p.Arg186fs)deletion Pathogenic 488548 rs1553259568 1:161276145-161276145 1:161306355-161306355
16 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)SNV Pathogenic/Likely pathogenic 462797 rs1553259648 1:161276549-161276549 1:161306759-161306759
17 MPZ NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)SNV Likely pathogenic 449537 rs1553259656 1:161276578-161276578 1:161306788-161306788
18 PMP22 NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)SNV Likely pathogenic 637843 17:15142892-15142892 17:15239575-15239575
19 MPZ NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)short repeat Conflicting interpretations of pathogenicity 447734 rs755446743 1:161275705-161275707 1:161305915-161305917
20 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)SNV Conflicting interpretations of pathogenicity 216963 1:161276252-161276252 1:161306462-161306462
21 PRX NM_020956.2(PRX):c.247del (p.Leu83fs)deletion Conflicting interpretations of pathogenicity 38454 rs281865061 19:40904661-40904661 19:40398754-40398754
22 MPZ NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)SNV Conflicting interpretations of pathogenicity 41014 rs281865121 1:161277193-161277193 1:161307403-161307403
23 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)SNV Uncertain significance 246524 rs200151353 1:161277149-161277149 1:161307359-161307359
24 PRX NM_020956.2(PRX):c.*3974G>ASNV Uncertain significance 245824 rs200332462 19:40900490-40900490 19:40394583-40394583
25 PRX NM_020956.2(PRX):c.*1751C>TSNV Uncertain significance 246316 rs144305922 19:40902713-40902713 19:40396806-40396806
26 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg)SNV Uncertain significance 586345 rs1567698985 17:15134355-15134355 17:15231038-15231038
27 PRX NM_020956.2(PRX):c.*4523G>ASNV Uncertain significance 634531 rs138437458 19:40899941-40899941 19:40394034-40394034
28 MPZ NM_000530.8(MPZ):c.661_662dup (p.Met222fs)duplication Uncertain significance 637794 1:161275750-161275751 1:161305960-161305961
29 MPZ NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)SNV Uncertain significance 637792 1:161275752-161275752 1:161305962-161305962
30 MPZ NM_000530.8(MPZ):c.522_525del (p.Leu175fs)deletion Uncertain significance 637923 1:161276178-161276181 1:161306388-161306391
31 MPZ NM_000530.8(MPZ):c.407T>A (p.Val136Glu)SNV Uncertain significance 637755 1:161276539-161276539 1:161306749-161306749
32 MPZ NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)SNV Uncertain significance 637350 1:161276566-161276566 1:161306776-161306776
33 MPZ NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)deletion Uncertain significance 637799 1:161276569-161276574 1:161306779-161306784
34 MPZ NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)indel Uncertain significance 637352 1:161276681-161276688 1:161306891-161306898
35 MPZ NM_000530.8(MPZ):c.190_192del (p.Phe64del)deletion Uncertain significance 637327 1:161277090-161277092 1:161307300-161307302
36 MPZ NM_000530.8(MPZ):c.123_125del (p.Val42del)deletion Uncertain significance 637483 1:161277157-161277159 1:161307367-161307369
37 PMP22 NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)SNV Uncertain significance 637375 17:15142808-15142808 17:15239491-15239491
38 PMP22 NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)SNV Uncertain significance 637820 17:15142809-15142809 17:15239492-15239492
39 PMP22 NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)short repeat Uncertain significance 637837 17:15142854-15142856 17:15239537-15239539
40 PMP22 NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)SNV Uncertain significance 637830 17:15142868-15142868 17:15239551-15239551
41 PMP22 NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)SNV Uncertain significance 637845 17:15142868-15142868 17:15239551-15239551
42 PMP22 NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)SNV Uncertain significance 637822 17:15142872-15142872 17:15239555-15239555
43 PMP22 NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)SNV Uncertain significance 637844 17:15142880-15142880 17:15239563-15239563
44 PMP22 NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)SNV Uncertain significance 637384 17:15142893-15142893 17:15239576-15239576
45 PMP22 NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)SNV Uncertain significance 637819 17:15142895-15142895 17:15239578-15239578
46 PMP22 NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)SNV Uncertain significance 637383 17:15163989-15163989 17:15260672-15260672
47 PRX NM_020956.2(PRX):c.*2240C>TSNV Uncertain significance 637481 19:40902224-40902224 19:40396317-40396317
48 GJB1 NM_000166.6(GJB1):c.244A>G (p.Ile82Val)SNV Uncertain significance 637925 X:70443801-70443801 X:71223951-71223951
49 EGR2 NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)SNV Uncertain significance 638513 10:64574018-64574018 10:62814258-62814258
50 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)SNV Uncertain significance 188195 rs756046682 17:15142922-15142922 17:15239605-15239605

UniProtKB/Swiss-Prot genetic disease variations for Hypertrophic Neuropathy of Dejerine-Sottas:

73 (show all 37)
# Symbol AA change Variation ID SNP ID
1 EGR2 p.Arg359Trp VAR_009874 rs104894161
2 GJB1 p.Val136Ala VAR_021611 rs104894826
3 MPZ p.Ser63Cys VAR_004508 rs121913585
4 MPZ p.Tyr82Cys VAR_004514 rs155325970
5 MPZ p.Arg98Cys VAR_004518 rs121913590
6 MPZ p.Ile114Thr VAR_004525 rs267607241
7 MPZ p.Asn116His VAR_004526 rs267607242
8 MPZ p.Cys127Tyr VAR_004531
9 MPZ p.Asp128Asn VAR_004533 rs267607243
10 MPZ p.Lys130Arg VAR_004534 rs281865127
11 MPZ p.Ile135Leu VAR_004538 rs879253858
12 MPZ p.Gly167Ala VAR_004543
13 MPZ p.Gly167Arg VAR_004544 rs121913586
14 MPZ p.Gly123Cys VAR_015977
15 MPZ p.Val136Glu VAR_015979
16 MPZ p.Gly110Asp VAR_029976
17 MPZ p.Ala221Thr VAR_031892
18 PMP22 p.His12Gln VAR_006359 rs104894622
19 PMP22 p.Leu16Pro VAR_006360 rs104894617
20 PMP22 p.Leu19Pro VAR_006361
21 PMP22 p.Met69Lys VAR_006362 rs104894620
22 PMP22 p.Ser72Leu VAR_006363 rs104894621
23 PMP22 p.Ser72Pro VAR_006364
24 PMP22 p.Ser72Trp VAR_006365
25 PMP22 p.Ser76Ile VAR_006366
26 PMP22 p.Ser79Pro VAR_006368
27 PMP22 p.Leu80Pro VAR_006369
28 PMP22 p.Gly100Glu VAR_006371
29 PMP22 p.Gly100Arg VAR_006372
30 PMP22 p.Leu105Arg VAR_006373
31 PMP22 p.Gly150Cys VAR_006378 rs104894624
32 PMP22 p.Gly150Asp VAR_006379 rs879253954
33 PMP22 p.Arg157Trp VAR_009664 rs28936682
34 PMP22 p.Leu71Pro VAR_029966
35 PMP22 p.Leu80Arg VAR_029967
36 PMP22 p.Cys109Arg VAR_029968
37 PMP22 p.Ser149Arg VAR_029970 rs775019409

Expression for Hypertrophic Neuropathy of Dejerine-Sottas

Search GEO for disease gene expression data for Hypertrophic Neuropathy of Dejerine-Sottas.

Pathways for Hypertrophic Neuropathy of Dejerine-Sottas

Pathways related to Hypertrophic Neuropathy of Dejerine-Sottas according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 PMP22 MPZ GJB1

GO Terms for Hypertrophic Neuropathy of Dejerine-Sottas

Cellular components related to Hypertrophic Neuropathy of Dejerine-Sottas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.62 SBF2 MTMR2

Biological processes related to Hypertrophic Neuropathy of Dejerine-Sottas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.26 MFN2 GDAP1
2 Schwann cell differentiation GO:0014037 9.16 NAB1 EGR2
3 myelination GO:0042552 9.02 SBF2 PMP22 NAB1 MPZ EGR2
4 myelin assembly GO:0032288 8.96 PMP22 MTMR2

Sources for Hypertrophic Neuropathy of Dejerine-Sottas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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