DSS
MCID: HYP186
MIFTS: 49

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 57 53 74
Dejerine-Sottas Disease 57 75 29 13 55 6 72
Charcot-Marie-Tooth Disease Type 3 12 53 59 74 15
Dejerine-Sottas Syndrome 57 12 53 59 74
Hereditary Motor and Sensory Neuropathy Type Iii 57 53 59
Dejerine-Sottas Neuropathy 57 12 53
Hmsn Iii 53 59 74
Hmsn3 57 53 74
Dss 57 53 74
Hereditary Motor and Sensory Neuropathy Type 3 53 59
Charcot-Marie-Tooth Disease, Type 3 57 53
Hmsn 3 53 59
Cmt3 57 53
Dsn 57 53
Hereditary Motor and Sensory Neuropathy Type Iii; Hmsn3 57
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 72
Charcot-Marie-Tooth Disease Demyelinating Type 4f 74
Hereditary Motor and Sensory Neuropathy Iii 74
Charcot-Marie-Tooth Disease, Type 3; Cmt3 57
Hereditary Motor and Sensory Neuropathy 3 53
Neuropathy, Hypertrophic, Dejerine-Sottas 40
Charcot-Marie-Tooth Neuropathy Type 4f 74
Charcot-Marie-Tooth Disease Type 4f 74
Hypertrophic Neuropathy of Infancy 53
Dejerine-Sottas Neuropathy; Dsn 57
Dejerine-Sottas Syndrome; Dss 57
Cmt4f 74

Characteristics:

Orphanet epidemiological data:

59
dejerine-sottas syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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:

32
hypertrophic neuropathy of dejerine-sottas:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050540
MeSH 44 D015417
MESH via Orphanet 45 C538392
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C0011195
Orphanet 59 ORPHA64748
UMLS 72 C0011195 C3540453

Summaries for Hypertrophic Neuropathy of Dejerine-Sottas

NIH Rare Diseases : 53 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, x-linked recessive, 3 and charcot-marie-tooth disease, demyelinating, type 4f, 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 brain, liver and heart, 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 : 57 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)

UniProtKB/Swiss-Prot : 74 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 : 75 Dejerine-Sottas disease, also known as Dejerine-Sottas syndrome, Dejerine-Sottas neuropathy, progressive... 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 166)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 3 33.2 SULT2B1 GJB1
2 charcot-marie-tooth disease, demyelinating, type 4f 32.1 PRX MTMR2 GDAP1 DRP2
3 roussy-levy hereditary areflexic dystasia 31.3 PMP22 MPZ
4 polyneuropathy 31.0 PMP22 MPZ GDAP1
5 neuritis 30.9 PMP22 MPZ
6 charcot-marie-tooth disease, type 4d 30.3 SH3TC2 GJB1 GDAP1
7 neuropathy 30.1 PRX PMP22 MPZ GJB1 GDAP1 EGR2
8 charcot-marie-tooth disease, demyelinating, type 1a 29.3 PMP22 MTMR2 MPZ KIF1B GJB1 GDAP1
9 charcot-marie-tooth disease, demyelinating, type 1b 28.9 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
10 charcot-marie-tooth disease 28.4 SH3TC2 PRX PMP22 MTMR2 MPZ LITAF
11 sensory peripheral neuropathy 28.2 PRX PMP22 MTMR2 MPZ LITAF GJB1
12 charcot-marie-tooth disease, demyelinating, type 1d 28.2 SULT2B1 PMP22 MTMR2 MPZ KIF1B KCNH6
13 neuropathy, hereditary, with liability to pressure palsies 28.1 PMP22 MTMR2 MPZ LITAF KIF1B GJB1
14 peripheral nervous system disease 26.9 SH3TC2 PRX PMP22 MTMR2 MPZ LITAF
15 tooth disease 26.8 SH3TC2 PRX PMP22 MTMR2 MPZ LITAF
16 dengue disease 11.9
17 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.7
18 neuropathy, congenital hypomyelinating, 2 11.7
19 dengue shock syndrome 11.6
20 dengue virus 11.5
21 46,xy sex reversal 2 11.5
22 hereditary motor and sensory neuropathy v 11.4
23 colitis 11.2
24 inflammatory bowel disease 11.0
25 ulcerative colitis 10.9
26 hereditary neuropathies 10.7
27 charcot-marie-tooth hereditary neuropathy 10.6 PMP22 MPZ
28 foot drop 10.6 PMP22 MPZ
29 charcot-marie-tooth disease, axonal, type 2q 10.5 MPZ EGR2
30 cauda equina syndrome 10.5 PMP22 EGR2
31 charcot-marie-tooth disease, axonal, type 2j 10.5 MPZ KIF1B
32 charcot-marie-tooth disease, axonal, type 2i 10.5 MPZ KIF1B
33 colorectal cancer 10.5
34 chronic inflammatory demyelinating polyradiculoneuropathy 10.4 PMP22 MPZ
35 polyradiculoneuropathy 10.4 PMP22 MPZ
36 diarrhea 10.4
37 autoimmune disease 10.4
38 crohn's disease 10.4
39 brachial plexus neuropathy 10.4 PMP22 KIF1B
40 scoliosis 10.4
41 ptosis 10.4
42 gastroesophageal reflux 10.3
43 guillain-barre syndrome, familial 10.3
44 branchiootic syndrome 1 10.3
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
46 hereditary sensory neuropathy 10.3
47 sensorineural hearing loss 10.3
48 respiratory failure 10.3
49 hereditary spastic paraplegia 10.3
50 neuromuscular disease 10.3

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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 muscular hypotonia 32 HP:0001252
3 generalized hypotonia 32 HP:0001290
4 areflexia 32 HP:0001284
5 pes cavus 32 HP:0001761
6 decreased motor nerve conduction velocity 32 HP:0003431
7 motor delay 32 HP:0001270
8 kyphoscoliosis 32 HP:0002751
9 split hand 32 HP:0001171
10 hyporeflexia 32 HP:0001265
11 distal amyotrophy 32 HP:0003693
12 foot dorsiflexor weakness 32 HP:0009027
13 hammertoe 32 HP:0001765
14 distal muscle weakness 32 HP:0002460
15 steppage gait 32 HP:0003376
16 increased csf protein 32 HP:0002922
17 segmental peripheral demyelination/remyelination 32 HP:0003481
18 sensory ataxia 32 HP:0010871
19 distal sensory impairment 32 HP:0002936
20 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
21 hypertrophic nerve changes 32 HP:0003382
22 onion bulb formation 32 HP:0003383
23 ulnar claw 32 HP:0001178

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
increased csf protein
sensory ataxia
distal sensory impairment
more
Head And Neck Eyes:
nystagmus (in some patients)

Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may occur

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 Synthetic lethal with cisplatin GR00101-A-1 8.62 EGR2 KCNH6

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 EGR2 GDAP1 GJB1 KIF1B MPZ MTMR2
2 homeostasis/metabolism MP:0005376 9.81 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ
3 nervous system MP:0003631 9.36 DRP2 EGR2 GDAP1 GJB1 KIF1B LITAF
4 limbs/digits/tail MP:0005371 9.35 EGR2 GDAP1 KIF1B MTMR2 PMP22

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:

41
Brain, Liver, Heart, Spinal Cord

Publications for Hypertrophic Neuropathy of Dejerine-Sottas

Articles related to Hypertrophic Neuropathy of Dejerine-Sottas:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 9 38 8 71
18698610 2008
2
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. 9 38 8 71
10211478 1999
3
Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 9 8 71
11133365 2001
4
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 8 71
15947997 2005
5
Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 8 71
12112076 2002
6
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). 9 38 8
7506095 1993
7
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 38 71
22847150 2012
8
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. 9 71
16534116 2006
9
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 9 71
15197604 2004
10
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 9 8
11523566 2001
11
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. 9 8
10371530 1999
12
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 9 8
8275092 1993
13
Trembler mouse carries a point mutation in a myelin gene. 9 8
1552943 1992
14
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. 38 8
4314714 1970
15
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 8
21840889 2011
16
Neuropathy in a human without the PMP22 gene. 71
21670407 2011
17
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 71
16770524 2006
18
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 71
15241803 2004
19
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 71
12439896 2002
20
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
21
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 71
8816708 1996
22
A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8. 8
8606695 1996
23
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 71
7581451 1995
24
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. 71
8541860 1995
25
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. 71
7825607 1995
26
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. 71
8422677 1993
27
Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy. 8
187739 1976
28
Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy. 8
187740 1976
29
The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. 8
4358565 1974
30
Autosomal dominant forms of hereditary hypertrophic neuropathy. 8
4663912 1972
31
Observations on hypertrophic neuropathy of Dejerine and Sottas. 8
13861139 1962
32
Familial chronic hypertrophic polyneuropathy with paralysis of the extremities in cold weather. 8
13717926 1960
33
Familial hypertrophic polyneuritis; review of a previously reported family. 8
13418976 1957
34
Observations on the syndrome of hypertrophic neuritis (the hypertrophic interstitial radiculo-neuropathies). 8
13368964 1956
35
A family with the progressive hypertrophic polyneuritis of Dejerine and Sottas. 8
13320157 1956
36
New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype. 9 38
17143884 2007
37
Marked phenotypic variation in a family with a new myelin protein zero mutation. 9 38
16198109 2005
38
Genetic evaluation of inherited motor/sensory neuropathy. 9 38
16106622 2004
39
Molecular basis of hereditary neuropathies. 9 38
11345007 2001
40
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. 9 38
10663978 2000
41
Inherited neuropathies: from gene to disease. 9 38
10219749 1999
42
Inherited peripheral neuropathy. 9 38
10716658 1999
43
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 9 38
9595994 1998
44
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. 9 38
9544841 1998
45
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. 9 38
9004143 1996
46
[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. 9 38
8914454 1996
47
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. 9 38
7675244 1995
48
Inherited neuropathies. 9 38
7804455 1994
49
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. 9 38
7952853 1994
50
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. 9 38
7849745 1994

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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 19:40901051-40901051 19:40395144-40395144
2 PRX PRX, 10-BP INS, NT394 insertion Pathogenic
3 PRX PRX, 4-BP DEL, 1194TTCC deletion Pathogenic
4 PMP22 NM_000304.4(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 17:15164009-15164009 17:15260692-15260692
5 GJB1 NM_000166.6(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 X:70443964-70443964 X:71224114-71224114
6 MPZ NM_000530.8(MPZ): c.188C> G (p.Ser63Cys) single nucleotide variant Pathogenic rs121913585 1:161277094-161277094 1:161307304-161307304
7 MPZ NM_000530.8(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 1:161276204-161276204 1:161306414-161306414
8 MPZ NM_000530.8(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 1:161276575-161276575 1:161306785-161306785
9 MPZ NM_000530.8(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 1:161276512-161276512 1:161306722-161306722
10 EGR2 NM_000399.5(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 10:64573323-64573323 10:62813563-62813563
11 PMP22 NM_000304.4(PMP22): c.449G> T (p.Gly150Val) single nucleotide variant Pathogenic rs879253954 17:15134268-15134268 17:15230951-15230951
12 PRX NM_181882.2(PRX): c.1012del (p.Ala338fs) deletion Pathogenic rs1555801290 19:40903247-40903247 19:40397340-40397340
13 MPZ NM_000530.8(MPZ): c.558del (p.Arg186fs) deletion Pathogenic rs1553259568 1:161276145-161276145 1:161306355-161306355
14 PRX NM_181882.2(PRX): c.1174C> T (p.Arg392Ter) single nucleotide variant Pathogenic rs773009397 19:40903085-40903085 19:40397178-40397178
15 MPZ NM_000530.8(MPZ): c.411C> T (p.Gly137=) single nucleotide variant Pathogenic 1:161276535-161276535 1:161306745-161306745
16 PMP22 NM_000304.4(PMP22): c.447C> A (p.Ser149Arg) single nucleotide variant Pathogenic rs775019409 17:15134270-15134270 17:15230953-15230953
17 PMP22 NM_000304.4(PMP22): c.449G> A (p.Gly150Asp) single nucleotide variant Pathogenic rs879253954 17:15134268-15134268 17:15230951-15230951
18 MPZ NM_000530.8(MPZ): c.397C> A (p.Pro133Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1553259648 1:161276549-161276549 1:161306759-161306759
19 MPZ NM_000530.8(MPZ): c.368G> A (p.Gly123Asp) single nucleotide variant Likely pathogenic rs1553259656 1:161276578-161276578 1:161306788-161306788
20 PMP22 NM_000304.4(PMP22): c.215C> G (p.Ser72Trp) single nucleotide variant Likely pathogenic 17:15142892-15142892 17:15239575-15239575
21 MPZ NM_000530.8(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Conflicting interpretations of pathogenicity 1:161276252-161276252 1:161306462-161306462
22 PRX NM_020956.2(PRX): c.247del (p.Leu83fs) deletion Conflicting interpretations of pathogenicity rs281865061 19:40904661-40904661 19:40398754-40398754
23 MPZ NM_000530.8(MPZ): c.89T> C (p.Ile30Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs281865121 1:161277193-161277193 1:161307403-161307403
24 PMP22 NM_000304.4(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 17:15142922-15142922 17:15239605-15239605
25 PRX NM_020956.2(PRX): c.80C> A (p.Thr27Asn) single nucleotide variant Uncertain significance rs1291881750 19:40909717-40909717 19:40403810-40403810
26 EGR2 NM_000399.5(EGR2): c.1084C> T (p.Arg362Ter) single nucleotide variant Uncertain significance rs1554853028 10:64573314-64573314 10:62813554-62813554
27 PMP22 NM_000304.4(PMP22): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs1022583382 17:15134239-15134239 17:15230922-15230922
28 PMP22 NM_000304.4(PMP22): c.214T> C (p.Ser72Pro) single nucleotide variant Uncertain significance 17:15142893-15142893 17:15239576-15239576
29 PMP22 NM_000304.4(PMP22): c.212T> C (p.Leu71Pro) single nucleotide variant Uncertain significance 17:15142895-15142895 17:15239578-15239578
30 PMP22 NM_000304.4(PMP22): c.56T> C (p.Leu19Pro) single nucleotide variant Uncertain significance 17:15163989-15163989 17:15260672-15260672
31 PRX NM_181882.2(PRX): c.2035C> T (p.Arg679Ter) single nucleotide variant Uncertain significance 19:40902224-40902224 19:40396317-40396317
32 EGR2 NM_000399.5(EGR2): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance 10:64574018-64574018 10:62814258-62814258
33 GJB1 NM_000166.6(GJB1): c.244A> G (p.Ile82Val) single nucleotide variant Uncertain significance X:70443801-70443801 X:71223951-71223951
34 MPZ NM_000530.8(MPZ): c.407T> A (p.Val136Glu) single nucleotide variant Uncertain significance 1:161276539-161276539 1:161306749-161306749
35 MPZ NM_000530.8(MPZ): c.522_525del (p.Leu175fs) deletion Uncertain significance 1:161276178-161276181 1:161306389-161306392
36 MPZ NM_000530.8(MPZ): c.661G> A (p.Ala221Thr) single nucleotide variant Uncertain significance 1:161275752-161275752 1:161305962-161305962
37 MPZ NM_000530.8(MPZ): c.661_662dup (p.Met222fs) duplication Uncertain significance 1:161275750-161275751 1:161305961-161305962
38 PRX NM_181882.2(PRX): c.4318G> A (p.Val1440Met) single nucleotide variant Uncertain significance 19:40899941-40899941 19:40394034-40394034
39 MPZ NM_000530.8(MPZ): c.380G> A (p.Cys127Tyr) single nucleotide variant Uncertain significance 1:161276566-161276566 1:161306776-161306776
40 MPZ NM_000530.8(MPZ): c.372_377del (p.Phe125_Thr126del) deletion Uncertain significance 1:161276569-161276574 1:161306782-161306787
41 MPZ NM_000530.8(MPZ): c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) indel Uncertain significance 1:161276681-161276688 1:161306891-161306898
42 MPZ NM_000530.8(MPZ): c.190_192del (p.Phe64del) deletion Uncertain significance 1:161277090-161277092 1:161307301-161307303
43 MPZ NM_000530.8(MPZ): c.123_125del (p.Val42del) deletion Uncertain significance 1:161277157-161277159 1:161307367-161307369
44 PMP22 NM_000304.4(PMP22): c.299G> A (p.Gly100Glu) single nucleotide variant Uncertain significance 17:15142808-15142808 17:15239491-15239491
45 PMP22 NM_000304.4(PMP22): c.298G> A (p.Gly100Arg) single nucleotide variant Uncertain significance 17:15142809-15142809 17:15239492-15239492
46 PMP22 NM_000304.4(PMP22): c.248_250TCT[1] (p.Phe84del) short repeat Uncertain significance 17:15142854-15142856 17:15239538-15239540
47 PMP22 NM_000304.4(PMP22): c.239T> G (p.Leu80Arg) single nucleotide variant Uncertain significance 17:15142868-15142868 17:15239551-15239551
48 PMP22 NM_000304.4(PMP22): c.239T> C (p.Leu80Pro) single nucleotide variant Uncertain significance 17:15142868-15142868 17:15239551-15239551
49 PMP22 NM_000304.4(PMP22): c.235T> C (p.Ser79Pro) single nucleotide variant Uncertain significance 17:15142872-15142872 17:15239555-15239555
50 PMP22 NM_000304.4(PMP22): c.227G> T (p.Ser76Ile) single nucleotide variant Uncertain significance 17:15142880-15142880 17:15239563-15239563

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

74 (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

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

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.16 PMP22 EGR2
2 myelin assembly GO:0032288 8.96 PMP22 MTMR2
3 myelination GO:0042552 8.8 PMP22 MPZ EGR2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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