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CHN1
MCID: NRP063
MIFTS: 58

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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

Name: Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 57 73
Charcot-Marie-Tooth Disease Type 4 12 20 58 29 6 15
Hereditary Motor and Sensory Neuropathy 12 20 29 6 32
Charcot-Marie-Tooth Disease Type 4e 12 20 58 73 15
Cmt4e 57 12 20 58 73
Congenital Hypomyelinating Neuropathy 20 36 29 6
Congenital Hypomyelinating Neuropathy 1, Autosomal Recessive 29 6
Autosomal Recessive Congenital Hypomyelinating Neuropathy 20 58
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 20 58
Hypomyelinating Neuropathy, Congenital, 1 57 29
Neuropathy, Congenital Hypomyelinating, 1 12 13
Charcot-Marie-Tooth Neuropathy Type 4e 12 73
Neuropathy, Congenital Hypomyelinating 20 54
Hypomyelination, Severe Congenital 57 20
Ar-Cmt1 20 58
Chn1 57 73
Cmt4 20 58
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 57
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 20
Charcot-Marie-Tooth Disease, Type 4e; Cmt4e 57
Neuropathy, Motor and Sensory, Hereditary 39
Charcot-Marie-Tooth Neuropathy, Type 4e 57
Neuropathy, Hypomyelinating, Congenital 39
Congenital Hypomyelination Neuropathy 20
Charcot-Marie-Tooth Disease, Type 4e 57
Charcot Marie Tooth Disease Type 4e 20
Hereditary Sensory Motor Neuropathy 54
Congenital Amyelinating Neuropathy 73
Severe Congenital Hypomyelination 73
Cmt 4e 20
Hmsn 20
Chn 20

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®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050541 DOID:0110195
OMIM® 57 605253
OMIM Phenotypic Series 57 PS118220 PS605253
KEGG 36 H02357
MeSH 44 D002607
ICD10 32 G60.0
MESH via Orphanet 45 C535301
ICD10 via Orphanet 33 G60.0
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Summaries for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

About this section
OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive, also known as charcot-marie-tooth disease type 4, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, demyelinating, type 1a. 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 drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, and related phenotypes are respiratory insufficiency and neonatal hypotonia

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

GARD : 20 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). According to the mutated gene CMT4 is classified in CMT4A, CMT4B1, CMT4B2, CMT4B3, CMT4C, CMT4D, CMT4E, CMT4F, CMT4G, CMT4H and CMT4J. Each of these subtypes is very rare and may affect only a particular ethnic group. CMT4 causes weakness, usually mostly distal (situated away from the center of the body) but sometimes involving proximal (near the center of the body) muscles. The most common symptoms are walking difficulties with steppage gait or an abnormally high arched foot (pes cavus) pes cavus. Hammer toes and other skeletal deformities, such as an abnormal lateral curvature of the spine (scoliosis), are often observed. Some affected people have changes in sensations (such as the sense of touch or ability to perceive temperature changes). When CMT4 begins in infancy, it is characterized by low muscle tone. CMT4 patients may also develop other symptoms such as cataracts or deafness. Generally, cases of CMT4 present earlier and with more severe symptoms compared to CMT1 or CMT2. Subtypes may have different clinical features among them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SBF1 (CMT4B3), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 inheritance is autosomal recessive. 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.

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

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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 335)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1b 33.8 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
2 charcot-marie-tooth disease, demyelinating, type 1a 33.6 SH3TC2 SBF2 PRX PMP22 NDRG1 MTMR2
3 hypertrophic neuropathy of dejerine-sottas 33.6 SH3TC2 SBF2 SBF1 PRX PMP22 NDRG1
4 hereditary motor and sensory neuropathy, type iic 33.6 SH3TC2 MPZ MFN2 GJB1 GDAP1 GARS1
5 charcot-marie-tooth disease, x-linked dominant, 1 33.5 SH3TC2 PRX PMP22 MTMR2 MPZ MFN2
6 charcot-marie-tooth disease, axonal, type 2e 33.5 SH3TC2 SBF2 SBF1 PRX PMP22 NDRG1
7 charcot-marie-tooth disease, type 4k 33.5 SH3TC2 LITAF
8 charcot-marie-tooth disease, demyelinating, type 1d 33.4 PRX PMP22 NDRG1 MTMR2 MPZ LITAF
9 charcot-marie-tooth disease, axonal, type 2b 33.4 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
10 charcot-marie-tooth disease and deafness 33.4 SH3TC2 SBF2 SBF1 PRX PMP22 NDRG1
11 charcot-marie-tooth disease, demyelinating, type 1c 33.3 SH3TC2 SBF2 PRX PMP22 NDRG1 MTMR2
12 charcot-marie-tooth disease, axonal, type 2a1 33.3 MPZ MFN2 GDAP1
13 neuropathy, hereditary motor and sensory, russe type 33.2 SH3TC2 NDRG1 GDAP1 EGR2
14 charcot-marie-tooth disease x-linked recessive 4 33.1 MPZ GJB1
15 charcot-marie-tooth disease, type 4c 33.0 SH3TC2 SBF2 NDRG1 MTMR2 MPZ LITAF
16 charcot-marie-tooth disease, type 4d 33.0 SH3TC2 SBF2 PRX NDRG1 MTMR2 MPZ
17 charcot-marie-tooth disease, type 4b3 33.0 SH3TC2 SBF2 SBF1 PMP22 MTMR2 MPZ
18 neuropathy, hereditary, with liability to pressure palsies 33.0 SH3TC2 SBF2 PRX PMP22 NDRG1 MTMR2
19 charcot-marie-tooth disease intermediate type 33.0 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
20 motor peripheral neuropathy 33.0 SH3TC2 PMP22 MFN2 LITAF GARS1 DYNC1H1
21 charcot-marie-tooth disease, type 4h 33.0 SH3TC2 SBF2 SBF1 PRX MTMR2 MPZ
22 charcot-marie-tooth disease, type 4j 33.0 VAC14 SH3TC2 SBF2 PRX MTMR2 MPZ
23 charcot-marie-tooth disease, demyelinating, type 4f 32.9 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
24 charcot-marie-tooth disease, type 4b1 32.9 VAC14 SH3TC2 SBF2 SBF1 PRX MTMR2
25 charcot-marie-tooth disease, type 4a 32.9 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
26 charcot-marie-tooth disease type 5 32.9 PRX GARS1 DYNC1H1
27 charcot-marie-tooth disease, type 4b2 32.9 VAC14 SH3TC2 SBF2-AS1 SBF2 SBF1 PRX
28 hereditary neuropathies 32.9 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
29 neuropathy, hereditary sensory and autonomic, type iia 32.9 SH3TC2 LITAF GDAP1 FGD4
30 charcot-marie-tooth disease, axonal, type 2d 32.8 SH3TC2 PMP22 MPZ MFN2 GJB1 GDAP1
31 charcot-marie-tooth disease, x-linked recessive, 2 32.8 MPZ MFN2 LITAF GJB1 EGR2 DYNC1H1
32 neuropathy 32.8 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
33 charcot-marie-tooth disease, axonal, type 2b2 32.8 MPZ MFN2 GDAP1 GARS1
34 roussy-levy hereditary areflexic dystasia 32.8 PMP22 MPZ
35 charcot-marie-tooth disease, axonal, type 2b1 32.5 MFN2 GDAP1
36 charcot-marie-tooth disease, axonal, type 2t 32.4 SH3TC2 GDAP1
37 polyneuropathy 32.0 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
38 peripheral nervous system disease 31.8 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
39 charcot-marie-tooth disease, axonal, type 2p 31.7 LITAF GDAP1 ARHGEF10
40 slowed nerve conduction velocity, autosomal dominant 31.7 MPZ GJB1 ARHGEF10
41 charcot-marie-tooth disease, dominant intermediate d 31.7 SH3TC2 MPZ
42 axonal neuropathy 31.7 PMP22 MFN2 GDAP1 GARS1
43 tooth disease 31.6 SH3TC2 SBF2-AS1 SBF2 SBF1 PRX PMP22
44 charcot-marie-tooth disease 31.6 PRX PMP22 NDRG1 MTMR2 MPZ MFN2
45 charcot-marie-tooth disease, axonal, type 2j 31.6 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, dominant intermediate e 31.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DYNC1H1
47 charcot-marie-tooth disease, demyelinating, type 1f 31.6 SBF2 SBF1 MTMR2 MPZ LITAF GJB1
48 charcot-marie-tooth disease, dominant intermediate b 31.6 SH3TC2 SBF2 MTMR2 MPZ LITAF GDAP1
49 charcot-marie-tooth disease, dominant intermediate a 31.6 PRX MPZ GJB1 GDAP1
50 charcot-marie-tooth disease, axonal, type 2i 31.5 SH3TC2 PRX MPZ GJB1 GDAP1 GARS1

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



Diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
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Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 neonatal hypotonia 31 HP:0001319
3 motor delay 31 HP:0001270
4 abnormal cranial nerve morphology 31 HP:0001291
5 areflexia 31 HP:0001284
6 peripheral neuropathy 31 HP:0009830
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 ARHGEF10 DYNC1H1 EGR2 FGD4 FIG4 GARS1
2 growth/size/body region MP:0005378 10.1 DYNC1H1 EGR2 FGD4 FIG4 GARS1 GJB1
3 homeostasis/metabolism MP:0005376 10.07 ARHGEF10 DYNC1H1 EGR2 FGD4 GDAP1 GJB1
4 mortality/aging MP:0010768 9.97 DYNC1H1 EGR2 FIG4 GARS1 GJB1 MFN2
5 nervous system MP:0003631 9.58 ARHGEF10 DYNC1H1 EGR2 FGD4 FIG4 GARS1
6 muscle MP:0005369 9.5 DYNC1H1 FIG4 GARS1 MFN2 NDRG1 PMP22
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Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702

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 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
3 Developing and Testing Instrument to Measure Physical Activity in Charcot-Marie-Tooth: a Pilot Project Not yet recruiting NCT04461613

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

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

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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 Hereditary Motor and Sensory Neuropathy 29
5 Hypomyelinating Neuropathy, Congenital, 1 29
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Anatomical Context for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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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
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Publications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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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. 54 6 57
9537424 1998
2
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 57
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. 57
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
Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. 57
1857496 1991
7
Congenital hypomyelinating neuropathy. 57
4087003 1985
8
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
9
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
10
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature. 61
29877907 2019
11
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. 61
30031633 2018
12
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 61
29351582 2018
13
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 61
28888069 2017
14
[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)]. 61
26351045 2015
15
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome. 54
20385006 2010
16
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 54
17940173 2007
17
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 61
17470135 2007
18
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
19
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. 54
16988048 2006
20
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. 54
16252242 2005
21
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
22
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
23
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene. 54
15261887 2004
24
Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser). 54
12805115 2003
25
Peripheral neuropathies of infancy. 54
12785442 2003
26
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. 54
12030330 2002
27
Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain. 54
11701152 2001
28
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 54
11523566 2001
29
Small axons relative to number of myelin lamellae in Charcot-Marie-Tooth disease 1A with peripheral myelin protein 22 gene duplication. 54
10862406 2000
30
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
31
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. 54
10371530 1999
32
Induction of experimental autoimmune neuritis with peripheral myelin protein-22. 54
9798745 1998
33
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 61
8530038 1995
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Variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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

6 (show top 50) (show all 1980)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EGR2 NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) SNV Pathogenic 16749 rs104894158 10:64573595-64573595 10:62813835-62813835
2 EGR2 NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) SNV Pathogenic 38873 rs281865138 10:64573252-64573252 10:62813492-62813492
3 EGR2 NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) SNV Pathogenic 38874 rs104894160 10:64573251-64573251 10:62813491-62813491
4 DYNC1H1 NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) SNV Pathogenic 139652 rs587780564 14:102452354-102452354 14:101986017-101986017
5 MPZ GRCh37/hg19 1q23.3(chr1:161255241-161276497) copy number loss Pathogenic 374304 1:161255241-161276497
6 MTMR2 NM_016156.5(MTMR2):c.1034del (p.Asn345fs) Deletion Pathogenic 216114 rs863224516 11:95581023-95581023 11:95847859-95847859
7 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 1:161276204-161276204 1:161306414-161306414
8 SH3TC2 NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) Deletion Pathogenic 216119 rs863224520 5:148407633-148407633 5:149028070-149028070
9 SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862
10 SH3TC2 NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) SNV Pathogenic 220821 rs864622663 5:148427493-148427493 5:149047930-149047930
11 SH3TC2 NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) SNV Pathogenic 21696 rs80338931 5:148406585-148406585 5:149027022-149027022
12 SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763
13 SH3TC2 NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) Deletion Pathogenic 241502 rs878855092 5:148407205-148407223 5:149027642-149027660
14 MTMR2 NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) SNV Pathogenic 241077 rs757563721 11:95582999-95582999 11:95849835-95849835
15 SH3TC2 NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) Deletion Pathogenic 220822 rs864622664 5:148389857-148389857 5:149010294-149010294
16 SH3TC2 NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) Indel Pathogenic 216005 rs863224454 5:148407708-148407709 5:149028145-149028146
17 SH3TC2 NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) SNV Pathogenic 377021 rs80338930 5:148406653-148406653 5:149027090-149027090
18 FGD4 NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) SNV Pathogenic 408261 rs778377449 12:32778681-32778681 12:32625747-32625747
19 MTMR2 NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) Microsatellite Pathogenic 406679 rs1555057316 11:95571312-95571313 11:95838148-95838149
20 NDRG1 NM_006096.3(NDRG1):c.205+1G>A SNV Pathogenic 410952 rs1060503092 8:134276789-134276789 8:133264546-133264546
21 SH3TC2 NC_000005.10:g.(?_149062971)_(149063174_?)del Deletion Pathogenic 417400 5:148442534-148442737 5:149062971-149063174
22 SBF2-AS1 NM_030962.3(SBF2):c.5037+1G>A SNV Pathogenic 403859 rs1060499999 11:9809180-9809180 11:9787633-9787633
23 SBF2 NM_030962.3(SBF2):c.2536+1G>A SNV Pathogenic 403862 rs1060500001 11:9875086-9875086 11:9853539-9853539
24 SBF2 NC_000011.10:g.(?_10193902)_(10193987_?)del Deletion Pathogenic 417314 11:10215449-10215534 11:10193902-10193987
25 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Pathogenic 1721 rs121908287 6:110036336-110036336 6:109715133-109715133
26 FIG4 NM_014845.5(FIG4):c.759del (p.Phe254fs) Deletion Pathogenic 254668 rs764717219 6:110059638-110059638 6:109738435-109738435
27 FIG4 NC_000006.12:g.(?_109691416)_(109691521_?)del Deletion Pathogenic 476840 6:110012619-110012724 6:109691416-109691521
28 SH3TC2 NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) Deletion Pathogenic 476892 rs1554121691 5:148407426-148407427 5:149027863-149027864
29 PRX NM_020956.2(PRX):c.*3219_*3220insT Insertion Pathogenic 543308 rs1301129751 19:40901244-40901245 19:40395337-40395338
30 FIG4 NM_014845.5(FIG4):c.1205del (p.Asn402fs) Deletion Pathogenic 543302 rs1554303800 6:110081519-110081519 6:109760316-109760316
31 MTMR2 NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) Microsatellite Pathogenic 543342 rs1358449243 11:95595159-95595160 11:95861995-95861996
32 SH3TC2 NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) SNV Pathogenic 543354 rs1554121665 5:148407317-148407317 5:149027754-149027754
33 FGD4 NM_001304481.1(FGD4):c.2118_2119CA[1] (p.Thr707fs) Microsatellite Pathogenic 543407 rs1555223595 12:32786584-32786585 12:32633650-32633651
34 SH3TC2 NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) Deletion Pathogenic 543408 rs1222150652 5:148388457-148388467 5:149008894-149008904
35 FIG4 NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) SNV Pathogenic 567685 rs1554309093 6:110113794-110113794 6:109792591-109792591
36 PRX NM_020956.2(PRX):c.*1307C>T SNV Pathogenic 4789 rs104894715 19:40903157-40903157 19:40397250-40397250
37 FGD4 NM_139241.3(FGD4):c.991del (p.Gln331fs) Deletion Pathogenic 570318 rs1393673267 12:32755249-32755249 12:32602315-32602315
38 SH3TC2 NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) Deletion Pathogenic 570428 rs1561765311 5:148407772-148407775 5:149028209-149028212
39 PRX NC_000019.10:g.(?_40403686)_(40403882_?)del Deletion Pathogenic 543513 19:40909593-40909789 19:40403686-40403882
40 SH3TC2 NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) SNV Pathogenic 566412 rs1561764735 5:148406877-148406877 5:149027314-149027314
41 FIG4 NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) Microsatellite Pathogenic 572934 rs750712213 6:110112681-110112682 6:109791478-109791479
42 PRX NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) SNV Pathogenic 574671 rs752192677 19:40904677-40904677 19:40398770-40398770
43 SBF2 NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) SNV Pathogenic 574771 rs1564923441 11:9879922-9879922 11:9858375-9858375
44 SBF2 NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) Deletion Pathogenic 574817 rs1270869520 11:10315596-10315597 11:10294049-10294050
45 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg) SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217
46 SBF2-AS1 NM_030962.3(SBF2):c.4443+1G>A SNV Pathogenic 566898 rs1564872328 11:9829546-9829546 11:9807999-9807999
47 PRX NM_020956.2(PRX):c.*3413C>T SNV Pathogenic 4794 rs104894708 19:40901051-40901051 19:40395144-40395144
48 SH3TC2 NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) SNV Pathogenic 579413 rs761972717 5:148386523-148386523 5:149006960-149006960
49 SBF2 NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) SNV Pathogenic 581182 rs774667470 11:9853897-9853897 11:9832350-9832350
50 PRX NM_020956.2(PRX):c.353del (p.Lys118fs) Deletion Pathogenic 577125 rs1568710514 19:40904555-40904555 19:40398648-40398648

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

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Expression for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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

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

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
10.81 PMP22 MPZ GJB1
Sources

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

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

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.65 VAC14 SBF2 MTMR2 LITAF FIG4
2 late endosome membrane GO:0031902 9.33 VAC14 LITAF FIG4
3 early endosome membrane GO:0031901 9.26 VAC14 MTMR2 LITAF FIG4
4 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 regulation of GTPase activity GO:0043087 9.54 SBF2 SBF1 FGD4
2 phosphatidylinositol biosynthetic process GO:0006661 9.46 VAC14 SBF1 MTMR2 FIG4
3 myelination in peripheral nervous system GO:0022011 9.43 SH3TC2 ARHGEF10
4 myelination GO:0042552 9.43 SBF2 MPZ EGR2
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 guanyl-nucleotide exchange factor activity GO:0005085 9.26 SBF2 SBF1 FGD4 ARHGEF10
2 phosphatidylinositol-3-phosphatase activity GO:0004438 9.16 MTMR2 FIG4
3 phosphatase regulator activity GO:0019208 8.62 SBF2 SBF1
Sources

Sources for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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