MCID: HYP186
MIFTS: 45

Hypertrophic Neuropathy of Dejerine-Sottas

Categories: Genetic diseases, Rare diseases, Neuronal 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 75
Dejerine-Sottas Disease 57 29 13 55 6 40 73
Charcot-Marie-Tooth Disease Type 3 12 53 59 75 15
Dejerine-Sottas Syndrome 57 12 53 59 75
Hereditary Motor and Sensory Neuropathy Type Iii 57 53 59
Dejerine-Sottas Neuropathy 57 12 53
Hmsn Iii 53 59 75
Hmsn3 57 53 75
Dss 57 53 75
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 73
Charcot-Marie-Tooth Disease Demyelinating Type 4f 75
Hereditary Motor and Sensory Neuropathy Iii 75
Charcot-Marie-Tooth Disease, Type 3; Cmt3 57
Hereditary Motor and Sensory Neuropathy 3 53
Charcot-Marie-Tooth Neuropathy Type 4f 75
Charcot-Marie-Tooth Disease Type 4f 75
Hypertrophic Neuropathy of Infancy 53
Dejerine-Sottas Neuropathy; Dsn 57
Dejerine-Sottas Syndrome; Dss 57
Cmt4f 75

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:
Onset and clinical course variable expressivity infantile onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 145900
Disease Ontology 12 DOID:0050540
Orphanet 59 ORPHA64748
MESH via Orphanet 45 C538392
UMLS via Orphanet 74 C0011195
ICD10 via Orphanet 34 G60.0
MeSH 44 D015417

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. Related phenotypes are nystagmus and muscular hypotonia

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 : 75 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 : 76 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 56)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 3 32.8 GJB1 SULT2B1
2 charcot-marie-tooth disease, demyelinating, type 4f 31.5 DRP2 GDAP1 MTMR2 PRX
3 neuropathy 29.9 EGR2 GDAP1 GJB1 MPZ PMP22 PRX
4 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 25.5 DRP2 EGR2 GDAP1 GJB1 KIF1B LITAF
5 dengue shock syndrome 11.3
6 dengue disease 11.3
7 dengue virus 11.2
8 46,xy sex reversal 2 11.2
9 hereditary motor and sensory neuropathy v 11.1
10 congenital hypomyelination neuropathy 10.7 MPZ PMP22
11 foot drop 10.7 MPZ PMP22
12 roussy-levy hereditary areflexic dystasia 10.7 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2q 10.7 EGR2 MPZ
14 charcot-marie-tooth disease, axonal, type 2i 10.6 KIF1B MPZ
15 cauda equina syndrome 10.6 EGR2 PMP22
16 charcot-marie-tooth disease, axonal, type 2j 10.6 KIF1B MPZ
17 chronic inflammatory demyelinating polyradiculoneuropathy 10.6 MPZ PMP22
18 polyradiculoneuropathy 10.5 MPZ PMP22
19 charcot-marie-tooth disease, axonal, type 2l 10.5 KIF1B MPZ
20 charcot-marie-tooth disease, demyelinating, type 1f 10.4 GJB1 MPZ PMP22
21 pelizaeus-merzbacher disease 10.4 MPZ PMP22
22 charcot-marie-tooth disease, x-linked recessive, 2 10.4 GJB1 SULT2B1
23 guillain-barre syndrome 10.3 MPZ PMP22
24 charcot-marie-tooth disease, type 4b3 10.3 GDAP1 MTMR2
25 brachial plexus neuropathy 10.3 GJB1 KIF1B PMP22
26 charcot-marie-tooth disease, x-linked dominant, 1 10.3 GDAP1 GJB1 MPZ
27 polyneuropathy 10.3 GDAP1 MPZ PMP22
28 charcot-marie-tooth disease, axonal, type 2k 10.2 GDAP1 KIF1B
29 neuritis 10.2 MPZ PMP22
30 neuropathy, hereditary motor and sensory, russe type 10.2 EGR2 SH3TC2
31 mononeuropathy 10.2 PMP22 SH3TC2
32 charcot-marie-tooth neuropathy type 1 10.1 EGR2 GJB1 MPZ PMP22
33 charcot-marie-tooth disease, type 4b2 10.1 GDAP1 MTMR2 PRX
34 charcot-marie-tooth disease, type 4b1 10.1 GDAP1 MTMR2 PRX
35 charcot-marie-tooth disease, type 4a 10.1 GDAP1 MTMR2 PRX
36 amyotrophic neuralgia 10.0 GJB1 KIF1B PMP22 PRX
37 hereditary motor and sensory neuropathy, type iic 9.9 GDAP1 GJB1 KIF1B MPZ
38 hereditary neuropathy with liability to pressure palsy 9.8 LITAF MPZ PMP22
39 charcot-marie-tooth disease, type 4d 9.8 GDAP1 GJB1 SH3TC2
40 charcot-marie-tooth disease, axonal, type 2f 9.7 GJB1 KCNH6 KIF1B MPZ
41 hereditary neuropathies 9.6 GJB1 MPZ MTMR2 PMP22 PRX
42 motor peripheral neuropathy 9.5 GJB1 KIF1B MPZ MTMR2 PMP22
43 carpal tunnel syndrome 9.5 PMP22 SH3TC2
44 charcot-marie-tooth disease, demyelinating, type 1c 9.4 KIF1B LITAF MPZ PMP22
45 trehalase deficiency 9.4 GJB1 MPZ PMP22 SH3TC2
46 charcot-marie-tooth disease, axonal, type 2b 9.1 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
47 charcot-marie-tooth disease, demyelinating, type 1a 8.8 EGR2 GDAP1 GJB1 KIF1B MPZ MTMR2
48 charcot-marie-tooth disease, demyelinating, type 1b 8.6 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
49 peripheral nervous system disease 8.4 EGR2 GDAP1 GJB1 MPZ MTMR2 PMP22
50 neuropathy, hereditary, with liability to pressure palsies 8.3 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Head And Neck Eyes:
nystagmus (in some patients)

Skeletal Hands:
claw hand deformities (in severe cases)

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
increased csf protein
sensory ataxia
distal sensory impairment
more
Skeletal Spine:
kyphoscoliosis may occur


Clinical features from OMIM:

145900

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 pes cavus 32 HP:0001761
4 decreased motor nerve conduction velocity 32 HP:0003431
5 areflexia 32 HP:0001284
6 split hand 32 HP:0001171
7 hyporeflexia 32 HP:0001265
8 motor delay 32 HP:0001270
9 foot dorsiflexor weakness 32 HP:0009027
10 kyphoscoliosis 32 HP:0002751
11 hammertoe 32 HP:0001765
12 distal muscle weakness 32 HP:0002460
13 steppage gait 32 HP:0003376
14 generalized hypotonia 32 HP:0001290
15 increased csf protein 32 HP:0002922
16 distal amyotrophy 32 HP:0003693
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

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 GJB1 KIF1B LITAF MPZ MTMR2 PMP22
4 limbs/digits/tail MP:0005371 9.35 MTMR2 PMP22 EGR2 GDAP1 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

Publications for Hypertrophic Neuropathy of Dejerine-Sottas

Articles related to Hypertrophic Neuropathy of Dejerine-Sottas:

(show all 23)
# Title Authors Year
1
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. ( 22734911 )
2012
2
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. ( 18698610 )
2008
3
New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype. ( 17143884 )
2007
4
Dejerine-Sottas disease (progressive hypertrophic polyneuropathy). ( 16645280 )
2006
5
Dejerine-Sottas disease: a case report. ( 14666293 )
2003
6
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. ( 12402282 )
2002
7
Anaesthetic management for a patient with Dejerine-Sottas disease and asthma. ( 11240883 )
2001
8
Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases. ( 10982389 )
2000
9
Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. ( 10663978 )
2000
10
MR imaging of Dejerine-Sottas disease. ( 10219400 )
1999
11
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. ( 10211478 )
1999
12
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. ( 9544841 )
1998
13
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118. ( 9452055 )
1998
14
A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype. ( 9588852 )
1998
15
Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III). ( 9270606 )
1997
16
A novel homozygous mutation of the myelin Po gene producing Dejerine- Sottas disease (hereditary motor and sensory neuropathy type III). ( 8630052 )
1996
17
Juvenile-onset of Dejerine-Sottas disease in a Taiwanese woman. ( 8935304 )
1996
18
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. ( 9004143 )
1996
19
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. ( 7675244 )
1995
20
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). ( 7506095 )
1993
21
The electrophysiologic profile of Dejerine-Sottas disease (HMSN III). ( 2388657 )
1990
22
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. ( 3467805 )
1987
23
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. ( 5948001 )
1966

Variations for Hypertrophic Neuropathy of Dejerine-Sottas

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

75 (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
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

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

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh37 Chromosome 19, 40903673: 40903673
2 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh38 Chromosome 19, 40397766: 40397766
3 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh37 Chromosome 19, 40901051: 40901051
4 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh38 Chromosome 19, 40395144: 40395144
5 PRX PRX, 10-BP INS, NT394 insertion Pathogenic
6 PRX PRX, 4-BP DEL, 1194TTCC deletion Pathogenic
7 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
8 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh38 Chromosome 17, 15239575: 15239575
9 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
10 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh38 Chromosome X, 71224114: 71224114
11 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
12 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
13 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
14 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh38 Chromosome 10, 62813563: 62813563
15 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
16 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh37 Chromosome 1, 161276252: 161276252
17 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh38 Chromosome 19, 40395565: 40395565
18 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh37 Chromosome 19, 40901472: 40901472
19 PMP22 NM_000304.3(PMP22): c.449G> T (p.Gly150Val) single nucleotide variant Pathogenic rs879253954 GRCh37 Chromosome 17, 15134268: 15134268
20 PMP22 NM_000304.3(PMP22): c.449G> T (p.Gly150Val) single nucleotide variant Pathogenic rs879253954 GRCh38 Chromosome 17, 15230951: 15230951
21 PRX NM_181882.2(PRX): c.1012delG (p.Ala338Profs) deletion Pathogenic GRCh37 Chromosome 19, 40903247: 40903247
22 PRX NM_181882.2(PRX): c.1012delG (p.Ala338Profs) deletion Pathogenic GRCh38 Chromosome 19, 40397340: 40397340
23 MPZ NM_000530.7(MPZ): c.558delG (p.Arg186Serfs) deletion Pathogenic GRCh37 Chromosome 1, 161276145: 161276145
24 MPZ NM_000530.7(MPZ): c.558delG (p.Arg186Serfs) deletion Pathogenic GRCh38 Chromosome 1, 161306355: 161306355

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 GJB1 MPZ PMP22

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 EGR2 PMP22
2 peripheral nervous system myelin maintenance GO:0032287 8.96 PRX SH3TC2
3 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Hypertrophic Neuropathy of Dejerine-Sottas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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