CHN1
MCID: NRP063
MIFTS: 57

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive (CHN1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

Name: Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 56 73
Charcot-Marie-Tooth Disease Type 4 12 52 58 29 6 15
Charcot-Marie-Tooth Disease Type 4e 12 52 58 73 15
Cmt4e 56 12 52 58 73
Congenital Hypomyelinating Neuropathy 52 36 29 6
Congenital Hypomyelinating Neuropathy 1, Autosomal Recessive 29 6
Autosomal Recessive Congenital Hypomyelinating Neuropathy 52 58
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 52 58
Hypomyelinating Neuropathy, Congenital, 1 56 29
Neuropathy, Congenital Hypomyelinating, 1 12 13
Hereditary Motor and Sensory Neuropathy 12 52
Charcot-Marie-Tooth Neuropathy Type 4e 12 73
Neuropathy, Congenital Hypomyelinating 52 54
Hypomyelination, Severe Congenital 56 52
Ar-Cmt1 52 58
Chn1 56 73
Cmt4 52 58
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 56
Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy 12
Congenital Hypomyelinating Neuropathy Autosomal Recessive 73
Neuropathy, Congenital Hypomyelinating or Amyelinating 73
Obsolete: Hereditary Motor and Sensory Neuropathy 52
Charcot-Marie-Tooth Disease, Type 4e; Cmt4e 56
Charcot-Marie-Tooth Neuropathy, Type 4e 56
Neuropathy, Hypomyelinating, Congenital 39
Congenital Hypomyelination Neuropathy 52
Charcot-Marie-Tooth Disease, Type 4e 56
Charcot Marie Tooth Disease Type 4e 52
Congenital Amyelinating Neuropathy 73
Severe Congenital Hypomyelination 73
Cmt 4e 52
Hmsn 52
Chn 52

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;
charcot-marie-tooth disease type 4e
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant (in 1 patient)

Miscellaneous:
onset at birth
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
one patient with sporadic occurrence (autosomal dominant) and a de novo mutation has been reported


HPO:

31
neuropathy, congenital hypomyelinating, 1, autosomal recessive:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050541 DOID:0110195
OMIM 56 605253
OMIM Phenotypic Series 56 PS118220 PS605253
KEGG 36 H02357
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C535301
ICD10 via Orphanet 33 G60.0

Summaries for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

OMIM : 56 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by onset of hypotonia at birth, areflexia, distal muscle weakness, and very slow nerve conduction velocities (often less than 10 m/s). 5,4:Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900) because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve. There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome. (605253)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive, also known as charcot-marie-tooth disease type 4, is related to hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth disease/hereditary motor and sensory neuropathy. An important gene associated with Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive is EGR2 (Early Growth Response 2), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Ethanol and Vitamin C have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, and related phenotypes are neonatal hypotonia and peripheral neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance.

NIH Rare Diseases : 52 Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy , corrective surgery (when needed) and pain medication.

KEGG : 36 Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.

UniProtKB/Swiss-Prot : 73 Neuropathy, congenital hypomyelinating, 1, autosomal recessive: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves.

Related Diseases for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Neuropathy, Congenital Hypomyelinating, 2 Neuropathy, Congenital Hypomyelinating, 3

Diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 35.6 SH3TC2 NEFL MPZ MFN2 KIF1B GJB1
2 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 35.3 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
3 charcot-marie-tooth disease, demyelinating, type 1b 35.2 SH3TC2 SBF2 PRX PMP22 PES1 MTMR2
4 mfn2 hereditary motor and sensory neuropathy 35.2 MFN2 KIF1B
5 charcot-marie-tooth disease, demyelinating, type 1a 35.1 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
6 charcot-marie-tooth disease, axonal, type 2a1 35.0 MPZ MFN2 KIF1B GDAP1 GARS1
7 charcot-marie-tooth disease, x-linked dominant, 1 34.9 SH3TC2 PRX PMP22 PES1 NEFL MTMR2
8 hypertrophic neuropathy of dejerine-sottas 34.8 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
9 charcot-marie-tooth disease, demyelinating, type 1c 34.7 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
10 charcot-marie-tooth disease, demyelinating, type 1d 34.7 PRX PMP22 MTMR2 MPZ LITAF KIF1B
11 charcot-marie-tooth disease, axonal, type 2b 34.7 SH3TC2 SBF2 NEFL MTMR2 MPZ LITAF
12 neuropathy, hereditary, with liability to pressure palsies 34.7 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
13 charcot-marie-tooth disease, type 4k 34.6 SH3TC2 LITAF
14 charcot-marie-tooth disease, axonal, type 2e 34.4 SH3TC2 SBF2 SBF1 PRX PMP22 PES1
15 charcot-marie-tooth disease and deafness 34.4 SH3TC2 SBF2 SBF1 PRX PMP22 PES1
16 neuropathy, hereditary motor and sensory, russe type 34.4 SH3TC2 NDRG1 GDAP1 EGR2
17 charcot-marie-tooth disease x-linked recessive 4 34.4 PES1 MPZ GJB1
18 charcot-marie-tooth disease, type 4d 34.2 SH3TC2 SBF2 NDRG1 MTMR2 MPZ LITAF
19 charcot-marie-tooth disease, type 4c 34.2 SH3TC2 SBF2 NDRG1 MTMR2 MPZ LITAF
20 motor peripheral neuropathy 34.2 SH3TC2 PMP22 PES1 MFN2 LITAF GJB1
21 roussy-levy hereditary areflexic dystasia 34.1 PMP22 MPZ
22 hereditary neuropathies 34.0 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
23 charcot-marie-tooth disease intermediate type 34.0 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
24 charcot-marie-tooth disease, axonal, type 2t 33.9 SH3TC2 SBF2 GDAP1
25 charcot-marie-tooth disease, axonal, type 2d 33.8 SH3TC2 NEFL MPZ MFN2 KIF1B GJB1
26 charcot-marie-tooth disease, x-linked recessive, 2 33.8 PES1 MPZ MFN2 LITAF GJB1 EGR2
27 charcot-marie-tooth disease, axonal, type 2b2 33.8 NEFL MPZ MFN2 KIF1B GDAP1 GARS1
28 charcot-marie-tooth disease, type 4b3 33.7 SH3TC2 SBF2 SBF1 PMP22 MTMR2 MPZ
29 charcot-marie-tooth disease, type 4h 33.7 SH3TC2 SBF2 SBF1 PRX NDRG1 MTMR2
30 charcot-marie-tooth disease, type 4j 33.7 VAC14 SH3TC2 SBF2 PRX MTMR2 MPZ
31 charcot-marie-tooth disease, type 4b1 33.7 VAC14 SH3TC2 SBF2 SBF1 PRX MTMR2
32 charcot-marie-tooth disease, type 4a 33.7 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
33 charcot-marie-tooth disease, type 4b2 33.7 VAC14 SH3TC2 SBF2 SBF1 PRX MTMR2
34 charcot-marie-tooth disease, axonal, type 2b1 33.6 MFN2 GDAP1
35 neuropathy, hereditary sensory and autonomic, type iia 33.4 SH3TC2 LITAF GDAP1 FGD4
36 charcot-marie-tooth disease type 2a 33.4 MFN2 KIF1B
37 charcot-marie-tooth disease type 5 33.4 PRX GARS1
38 neuropathy 33.0 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
39 charcot-marie-tooth disease, dominant intermediate d 32.8 SH3TC2 MPZ KIF1B
40 charcot-marie-tooth disease, axonal, type 2p 32.5 LITAF GDAP1
41 charcot-marie-tooth disease, recessive intermediate a 32.4 MFN2 GDAP1
42 charcot-marie-tooth disease, dominant intermediate b 32.3 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
43 polyneuropathy 32.3 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
44 charcot-marie-tooth disease, dominant intermediate e 32.3 SH3TC2 SBF2 MTMR2 MPZ GDAP1
45 charcot-marie-tooth disease, axonal, type 2i 32.2 SH3TC2 PRX NEFL MPZ KIF1B GJB1
46 charcot-marie-tooth disease, axonal, type 2j 32.2 SH3TC2 SBF2 PRX NEFL MTMR2 MPZ
47 charcot-marie-tooth disease, demyelinating, type 1f 32.2 SBF2 SBF1 NEFL MTMR2 MPZ LITAF
48 charcot-marie-tooth disease, dominant intermediate a 32.2 PRX MPZ GJB1 GDAP1
49 charcot-marie-tooth disease, axonal, type 2f 32.2 NEFL MPZ MFN2 LITAF KIF1B GJB1
50 charcot-marie-tooth disease, demyelinating, type 4f 32.2 SH3TC2 SBF2 PRX PES1 MTMR2 MPZ

Graphical network of the top 20 diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:



Diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 HP:0001319
2 peripheral neuropathy 31 HP:0009830
3 respiratory insufficiency 31 HP:0002093
4 motor delay 31 HP:0001270
5 abnormal cranial nerve morphology 31 HP:0001291
6 areflexia 31 HP:0001284
7 decreased motor nerve conduction velocity 31 HP:0003431
8 distal amyotrophy 31 HP:0003693
9 distal muscle weakness 31 HP:0002460
10 upper limb muscle weakness 31 HP:0003484
11 onion bulb formation 31 HP:0003383
12 peripheral hypomyelination 31 HP:0007182

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
neonatal hypotonia
areflexia
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Respiratory:
respiratory insufficiency due to neuropathy

Clinical features from OMIM:

605253

GenomeRNAi Phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 GJB1
2 Decreased viability GR00055-A-2 9.7 GJB1
3 Decreased viability GR00249-S 9.7 GJB1 MPZ NDRG1 SH3TC2
4 Decreased viability GR00381-A-1 9.7 FGD4 FIG4 MPZ PES1 PRX SH3TC2
5 Decreased viability GR00381-A-3 9.7 MPZ
6 Decreased viability GR00386-A-1 9.7 EGR2 MPZ NEFL PES1
7 Decreased viability GR00402-S-2 9.7 FGD4 GARS1 GJB1 MPZ MTMR2 NDRG1

MGI Mouse Phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1
2 growth/size/body region MP:0005378 10.21 EGR2 FGD4 FIG4 GARS1 GJB1 KIF1B
3 homeostasis/metabolism MP:0005376 10.1 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
4 mortality/aging MP:0010768 10 EGR2 FIG4 GARS1 GJB1 KIF1B MFN2
5 limbs/digits/tail MP:0005371 9.73 EGR2 FIG4 GDAP1 KIF1B MTMR2 PMP22
6 nervous system MP:0003631 9.58 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1
7 muscle MP:0005369 9.5 FIG4 GARS1 KIF1B MFN2 NDRG1 PMP22

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Drugs for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
3 Trace Elements Phase 2
4 Micronutrients Phase 2
5 Vitamins Phase 2
6 Antioxidants Phase 2
7 Nutrients Phase 2
8 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Aerobic EXercise on MiCroVAscular RarefacTION in Chinese Mild HyperteNsive Patients(EXCAVATION-CHN1) Unknown status NCT02817204 Phase 3
2 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
3 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
4 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
5 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
6 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075
7 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Active, not recruiting NCT03966287
8 Use Of Autologous Stem Cell Use In Neurological Non-neoplastic Disorders And Disease Not yet recruiting NCT03297177

Search NIH Clinical Center for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Genetic Tests for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Genetic tests related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy 1, Autosomal Recessive 29 EGR2
2 Congenital Hypomyelinating Neuropathy 29
3 Charcot-Marie-Tooth Disease Type 4 29 SBF1
4 Hypomyelinating Neuropathy, Congenital, 1 29

Anatomical Context for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:
# Tissue Anatomical CompartmentCell Relevance
1 Peripheral Nervous System Peripheral Nerve Domain Myelinating Schwann Cells Affected by disease

Publications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Articles related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

(show all 33)
# Title Authors PMID Year
1
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 56 6 54
9537424 1998
2
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 56
22522483 2012
3
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 6
17717711 2007
4
P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. 56
10704451 2000
5
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 6
10369870 1999
6
Congenital hypomyelination due to myelin protein zero Q215X mutation. 6
10319895 1999
7
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
8
Charcot-Marie-Tooth Neuropathy Type 4 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301641 1998
9
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 6
8816708 1996
10
Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. 56
1857496 1991
11
Congenital hypomyelinating neuropathy. 56
4087003 1985
12
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients. 61
32256628 2020
13
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. 61
30653784 2019
14
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature. 61
29877907 2019
15
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. 61
30031633 2018
16
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 61
29351582 2018
17
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 61
28888069 2017
18
[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)]. 61
26351045 2015
19
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome. 54
20385006 2010
20
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 54
17940173 2007
21
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 61
17470135 2007
22
A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy. 54
16872830 2006
23
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. 54
16988048 2006
24
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. 54
16252242 2005
25
Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder. 54
15148307 2004
26
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene. 54
15261887 2004
27
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. 54
15625576 2004
28
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. 54
12030330 2002
29
Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain. 54
11701152 2001
30
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 54
11523566 2001
31
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. 54
10764043 2000
32
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. 54
10371530 1999
33
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 61
8530038 1995

Variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

6 (show top 50) (show all 1663) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NC_000005.10:g.(?_149062971)_(149063174_?)deldeletion Pathogenic 417400 5:148442534-148442737 5:149062971-149063174
2 NDRG1 NM_006096.3(NDRG1):c.205+1G>ASNV Pathogenic 410952 rs1060503092 8:134276789-134276789 8:133264546-133264546
3 SBF2 NC_000011.10:g.(?_10193902)_(10193987_?)deldeletion Pathogenic 417314 11:10215449-10215534 11:10193902-10193987
4 MTMR2 NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs)short repeat Pathogenic 406679 rs1555057316 11:95571312-95571313 11:95838148-95838149
5 SBF2 NM_030962.3(SBF2):c.2536+1G>ASNV Pathogenic 403862 rs1060500001 11:9875086-9875086 11:9853539-9853539
6 FGD4 NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter)SNV Pathogenic 408261 rs778377449 12:32778681-32778681 12:32625747-32625747
7 FIG4 NM_014845.5(FIG4):c.1373dup (p.Leu458fs)duplication Pathogenic 419553 rs770043095 6:110083391-110083392 6:109762188-109762189
8 FGD4 NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs)short repeat Pathogenic 419181 rs751035912 12:32786595-32786599 12:32633661-32633665
9 SH3TC2 NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs)deletion Pathogenic 476892 rs1554121691 5:148407426-148407427 5:149027863-149027864
10 FIG4 NC_000006.12:g.(?_109691416)_(109691521_?)deldeletion Pathogenic 476840 6:110012619-110012724 6:109691416-109691521
11 FIG4 NM_014845.5(FIG4):c.793C>T (p.Arg265Ter)SNV Pathogenic 488991 rs774294963 6:110062664-110062664 6:109741461-109741461
12 SH3TC2 NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs)deletion Pathogenic 543408 rs1222150652 5:148388457-148388467 5:149008894-149008904
13 SH3TC2 NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter)SNV Pathogenic 543354 rs1554121665 5:148407317-148407317 5:149027754-149027754
14 FIG4 NM_014845.5(FIG4):c.1205del (p.Asn402fs)deletion Pathogenic 543302 rs1554303800 6:110081519-110081519 6:109760316-109760316
15 MTMR2 NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer)short repeat Pathogenic 543342 rs1358449243 11:95595159-95595160 11:95861995-95861996
16 FGD4 NM_001304480.1(FGD4):c.2199_2200CA[1] (p.Thr734fs)short repeat Pathogenic 543407 rs1555223595 12:32786584-32786585 12:32633650-32633651
17 PRX NC_000019.10:g.(?_40403686)_(40403882_?)deldeletion Pathogenic 543513 19:40909593-40909789 19:40403686-40403882
18 PRX NM_020956.2(PRX):c.*3219_*3220insTinsertion Pathogenic 543308 rs1301129751 19:40901244-40901245 19:40395337-40395338
19 SH3TC2 NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)SNV Pathogenic 579413 rs761972717 5:148386523-148386523 5:149006960-149006960
20 SH3TC2 NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter)SNV Pathogenic 566412 rs1561764735 5:148406877-148406877 5:149027314-149027314
21 SH3TC2 NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs)deletion Pathogenic 570428 rs1561765311 5:148407772-148407775 5:149028209-149028212
22 SBF2 NM_030962.3(SBF2):c.20_21del (p.Tyr7fs)deletion Pathogenic 574817 rs1270869520 11:10315596-10315597 11:10294049-10294050
23 SH3TC2 NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter)SNV Pathogenic 583373 rs1561764925 5:148407149-148407149 5:149027586-149027586
24 FGD4 NC_000012.12:g.(?_32576352)_(32619876_?)deldeletion Pathogenic 584336 12:32729286-32772810 12:32576352-32619876
25 SBF2 NM_030962.3(SBF2):c.754_823del (p.Tyr252fs)deletion Pathogenic 582946 rs1565115957 11:10022499-10022568 11:10000952-10001021
26 FIG4 NC_000006.12:g.(?_109741424)_(109743792_?)deldeletion Pathogenic 583457 6:110062627-110064995 6:109741424-109743792
27 FIG4 NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs)short repeat Pathogenic 572934 rs750712213 6:110112681-110112682 6:109791478-109791479
28 FIG4 NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter)SNV Pathogenic 567685 rs1554309093 6:110113794-110113794 6:109792591-109792591
29 SBF2 NM_030962.3(SBF2):c.4443+1G>ASNV Pathogenic 566898 rs1564872328 11:9829546-9829546 11:9807999-9807999
30 SBF2 NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter)SNV Pathogenic 574771 rs1564923441 11:9879922-9879922 11:9858375-9858375
31 FGD4 NM_139241.3(FGD4):c.991del (p.Gln331fs)deletion Pathogenic 570318 rs1393673267 12:32755249-32755249 12:32602315-32602315
32 PRX NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)SNV Pathogenic 574671 rs752192677 19:40904677-40904677 19:40398770-40398770
33 PRX NM_020956.2(PRX):c.*1595C>TSNV Pathogenic 580375 rs574861276 19:40902869-40902869 19:40396962-40396962
34 SBF2 NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)SNV Pathogenic 581182 rs774667470 11:9853897-9853897 11:9832350-9832350
35 PRX NM_020956.2(PRX):c.353del (p.Lys118fs)deletion Pathogenic 577125 rs1568710514 19:40904555-40904555 19:40398648-40398648
36 PRX NM_020956.2(PRX):c.*3058dupduplication Pathogenic 595695 rs1568704829 19:40901405-40901406 19:40395498-40395499
37 SH3TC2 NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)SNV Pathogenic 637510 5:148407917-148407917 5:149028354-149028354
38 PRX NM_020956.2(PRX):c.*2069C>TSNV Pathogenic 637509 19:40902395-40902395 19:40396488-40396488
39 FIG4 NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)SNV Pathogenic 666083 6:110106211-110106211 6:109785008-109785008
40 SH3TC2 NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)deletion Pathogenic 655644 5:148407929-148407929 5:149028366-149028366
41 MTMR2 NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)deletion Pathogenic 647003 11:95574803-95574806 11:95841639-95841642
42 MTMR2 NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)deletion Pathogenic 646293 11:95595166-95595170 11:95862002-95862006
43 FGD4 NM_139241.3(FGD4):c.1043del (p.Pro348fs)deletion Pathogenic 651656 12:32760939-32760939 12:32608005-32608005
44 PRX NM_020956.2(PRX):c.*2894C>TSNV Pathogenic 646421 19:40901570-40901570 19:40395663-40395663
45 PRX NM_181882.3(PRX):c.627del (p.Ala210fs)deletion Pathogenic 653288 19:40903632-40903632 19:40397725-40397725
46 SH3TC2 NC_000005.10:g.(?_149047842)_(149048009_?)deldeletion Pathogenic 643156 5:148427405-148427572 5:149047842-149048009
47 PRX NM_181882.3(PRX):c.458del (p.Pro153fs)deletion Pathogenic 694922 19:40903801-40903801 19:40397894-40397894
48 SH3TC2 NC_000005.10:g.(?_149040594)_(149040687_?)deldeletion Pathogenic 832090 5:148420157-148420250
49 FGD4 NC_000012.12:g.(?_32576256)_(32640543_?)deldeletion Pathogenic 831946 12:32729190-32793477
50 SH3TC2 NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)SNV Pathogenic 842178 5:148424106-148424106 5:149044543-149044543

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 EGR2 p.Ile268Asn VAR_007735 rs104894158

Expression for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive.

Pathways for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Pathways related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

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

GO Terms for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Cellular components related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 VAC14 SBF2 SBF1 PRX PMP22 PES1
2 cytosol GO:0005829 10.1 VAC14 SBF2 SBF1 PES1 NEFL NDRG1
3 endosome GO:0005768 9.83 VAC14 SBF2 MTMR2 LITAF FIG4
4 axon GO:0030424 9.65 SBF2 NEFL MTMR2 KIF1B GARS1
5 late endosome membrane GO:0031902 9.58 VAC14 LITAF FIG4
6 early endosome membrane GO:0031901 9.46 VAC14 MTMR2 LITAF FIG4
7 vacuolar membrane GO:0005774 9.13 VAC14 SBF2 MTMR2
8 endosome membrane GO:0010008 9.02 VAC14 SBF2 MTMR2 LITAF FIG4

Biological processes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 9.56 VAC14 SBF1 MTMR2 FIG4
2 regulation of GTPase activity GO:0043087 9.54 SBF2 SBF1 FGD4
3 myelination GO:0042552 9.46 SBF2 PMP22 MPZ EGR2
4 phosphatidylinositol metabolic process GO:0046488 9.43 MTMR2 FIG4
5 mitochondrial fusion GO:0008053 9.4 MFN2 GDAP1
6 negative regulation of myelination GO:0031642 9.32 MTMR2 FIG4
7 myelin assembly GO:0032288 9.13 PMP22 MTMR2 FIG4
8 peripheral nervous system myelin maintenance GO:0032287 8.8 SH3TC2 PRX NDRG1

Molecular functions related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.96 MTMR2 FIG4
2 phosphatase regulator activity GO:0019208 8.62 SBF2 SBF1

Sources for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

3 CDC
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