CHN1
MCID: NRP063
MIFTS: 58

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72
Charcot-Marie-Tooth Disease Type 4 12 20 58 29 6 15
Hereditary Motor and Sensory Neuropathy 12 20 29 6 32
Congenital Hypomyelinating Neuropathy 20 36 29 6 70
Charcot-Marie-Tooth Disease Type 4e 12 20 58 72 15
Cmt4e 57 12 20 58 72
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 72
Neuropathy, Congenital Hypomyelinating 20 54
Hypomyelination, Severe Congenital 57 20
Ar-Cmt1 20 58
Chn1 57 72
Cmt4 20 58
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 57
Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy 12
Congenital Hypomyelinating Neuropathy Autosomal Recessive 72
Neuropathy, Congenital Hypomyelinating or Amyelinating 72
Obsolete: Hereditary Motor and Sensory Neuropathy 20
Charcot-Marie-Tooth Disease, Type 4e; Cmt4e 57
Neuropathy, Motor and Sensory, Hereditary 39
Hereditary Motor and Sensory Neuropathies 70
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 72
Severe Congenital Hypomyelination 72
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-Apr-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:

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
UMLS 70 C0027888 C0393818

Summaries for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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-Apr-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 : 72 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 348)
# 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 33.7 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
3 hypertrophic neuropathy of dejerine-sottas 33.7 SH3TC2 SBF2 PRX PMP22 NDRG1 MTMR2
4 charcot-marie-tooth disease, x-linked dominant, 1 33.6 SH3TC2 PRX PMP22 MTMR2 MPZ MFN2
5 hereditary motor and sensory neuropathy, type iic 33.6 SH3TC2 MPZ MFN2 GJB1 GDAP1 GARS1
6 charcot-marie-tooth disease, axonal, type 2e 33.6 SH3TC2 SBF2 SBF1 PRX PMP22 NDRG1
7 charcot-marie-tooth disease and deafness 33.5 SH3TC2 SBF2 PRX PMP22 NDRG1 MTMR2
8 charcot-marie-tooth disease, type 4k 33.5 SH3TC2 LITAF
9 charcot-marie-tooth disease, demyelinating, type 1d 33.5 PRX PMP22 NDRG1 MTMR2 MPZ LITAF
10 charcot-marie-tooth disease, axonal, type 2b 33.5 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
11 charcot-marie-tooth disease, demyelinating, type 1c 33.4 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, type 4c 33.0 SH3TC2 SBF2 NDRG1 MTMR2 MPZ LITAF
15 charcot-marie-tooth disease, type 4d 33.0 SH3TC2 SBF2 PRX NDRG1 MTMR2 MPZ
16 neuropathy, hereditary, with liability to pressure palsies 33.0 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
17 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 33.0 MFN2 LITAF
18 charcot-marie-tooth disease, type 4b3 33.0 SH3TC2 SBF2 SBF1 PMP22 MTMR2 MPZ
19 charcot-marie-tooth disease, type 4h 33.0 SH3TC2 SBF2 SBF1 PRX MTMR2 MPZ
20 charcot-marie-tooth disease, demyelinating, type 4f 33.0 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
21 charcot-marie-tooth disease intermediate type 33.0 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
22 charcot-marie-tooth disease, type 4j 33.0 VAC14 SH3TC2 SBF2 PRX MTMR2 MPZ
23 motor peripheral neuropathy 33.0 SH3TC2 PMP22 MFN2 LITAF GARS1 DYNC1H1
24 charcot-marie-tooth disease, type 4b1 33.0 VAC14 SH3TC2 SBF2 SBF1 PRX MTMR2
25 charcot-marie-tooth disease, type 4a 33.0 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 neuropathy, hereditary sensory and autonomic, type iia 32.9 SH3TC2 LITAF GDAP1 FGD4
29 hereditary neuropathies 32.9 SH3TC2 PRX PMP22 NDRG1 MTMR2 MPZ
30 neuropathy 32.9 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
31 charcot-marie-tooth disease x-linked recessive 4 32.9 MPZ GJB1
32 charcot-marie-tooth disease, axonal, type 2d 32.9 SH3TC2 PMP22 MPZ MFN2 GJB1 GDAP1
33 roussy-levy hereditary areflexic dystasia 32.9 PMP22 MPZ
34 charcot-marie-tooth disease, x-linked recessive, 2 32.8 MPZ MFN2 LITAF GJB1 EGR2 DYNC1H1
35 charcot-marie-tooth disease, axonal, type 2b2 32.8 MPZ MFN2 GDAP1 GARS1
36 charcot-marie-tooth disease, axonal, type 2t 32.7 SH3TC2 GDAP1
37 charcot-marie-tooth disease, axonal, type 2b1 32.6 MFN2 GDAP1
38 polyneuropathy 32.0 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
39 peripheral nervous system disease 31.9 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
40 charcot-marie-tooth disease, dominant intermediate d 31.7 SH3TC2 MPZ
41 tooth disease 31.7 SH3TC2 SBF2-AS1 SBF2 SBF1 PRX PMP22
42 axonal neuropathy 31.7 PMP22 MFN2 GDAP1 GARS1
43 charcot-marie-tooth disease 31.7 VAC14 SH3TC2 SBF2-AS1 SBF2 SBF1 PRX
44 slowed nerve conduction velocity, autosomal dominant 31.7 MPZ GJB1
45 charcot-marie-tooth disease, axonal, type 2j 31.6 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, demyelinating, type 1f 31.6 SBF2 SBF1 MTMR2 MPZ LITAF GJB1
47 charcot-marie-tooth disease, dominant intermediate e 31.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DYNC1H1
48 charcot-marie-tooth disease, dominant intermediate b 31.6 SH3TC2 SBF2 MTMR2 MPZ LITAF GDAP1
49 charcot-marie-tooth disease, axonal, type 2i 31.6 SH3TC2 PRX MPZ GJB1 GDAP1 GARS1
50 charcot-marie-tooth disease, dominant intermediate a 31.6 PRX MPZ GJB1 GDAP1

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 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 muscle weakness 31 HP:0002460
9 distal amyotrophy 31 HP:0003693
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-Apr-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-Apr-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 10.16 DYNC1H1 EGR2 FGD4 FIG4 GARS1 GDAP1
2 mortality/aging MP:0010768 9.97 DYNC1H1 EGR2 FIG4 GARS1 GJB1 MFN2
3 nervous system MP:0003631 9.55 DYNC1H1 EGR2 FGD4 FIG4 GARS1 GDAP1
4 muscle MP:0005369 9.5 DYNC1H1 FIG4 GARS1 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):


# 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 Enrolling by invitation NCT04461613

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 Hereditary Motor and Sensory Neuropathy 29
5 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 top 50) (show all 106)
# Title Authors PMID Year
1
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 54 57 6
9537424 1998
2
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 61 6
17470135 2007
3
Cerebral hypomyelination associated with biallelic variants of FIG4. 6
30740813 2019
4
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 6
30373780 2018
5
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. 6
29858556 2018
6
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence. 6
30001926 2018
7
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. 6
28509084 2018
8
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2. 6
29321516 2018
9
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. 6
28902413 2017
10
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. 6
28555600 2017
11
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 6
27862672 2017
12
Genetic heterogeneity of motor neuropathies. 6
28251916 2017
13
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 6
27231023 2016
14
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 6
27549087 2016
15
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. 6
27068304 2016
16
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 6
26752306 2016
17
The use of whole-exome sequencing to disentangle complex phenotypes. 6
26059842 2016
18
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 6
26392352 2015
19
Phenotypic variability of CMT4C in a French-Canadian kindred. 6
25737037 2015
20
Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family. 6
25628743 2015
21
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. 6
25231362 2015
22
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 6
25429913 2014
23
Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 6
25873783 2014
24
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 6
25614874 2014
25
Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation. 6
25108819 2014
26
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 6
24878229 2014
27
Novel FIG4 mutations in Yunis-Varon syndrome. 6
24088667 2013
28
Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 6
23996628 2013
29
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 6
24078732 2013
30
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. 6
24011642 2013
31
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 6
23553667 2013
32
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 6
22978647 2013
33
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 6
23623387 2013
34
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 6
23489662 2013
35
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan. 6
23466821 2013
36
Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 6
23281072 2013
37
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. 6
23806086 2013
38
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 6
22847150 2012
39
Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene. 6
22950825 2012
40
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 57
22522483 2012
41
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. 6
22462672 2012
42
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. 6
21892769 2012
43
High frequency of SH3TC2 mutations in Czech HMSN I patients. 6
21291453 2011
44
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 6
21840889 2011
45
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 6
21705420 2011
46
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 6
21655088 2011
47
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. 6
20826437 2010
48
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. 6
20630877 2010
49
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 6
20220177 2010
50
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 6
20028792 2010

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 2233)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EGR2 NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) SNV Pathogenic 16749 rs104894158 GRCh37: 10:64573595-64573595
GRCh38: 10:62813835-62813835
2 EGR2 NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) SNV Pathogenic 38873 rs281865138 GRCh37: 10:64573252-64573252
GRCh38: 10:62813492-62813492
3 EGR2 NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) SNV Pathogenic 38874 rs104894160 GRCh37: 10:64573251-64573251
GRCh38: 10:62813491-62813491
4 MPZ GRCh37/hg19 1q23.3(chr1:161255241-161276497) copy number loss Pathogenic 374304 GRCh37: 1:161255241-161276497
GRCh38:
5 SH3TC2 NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) Indel Pathogenic 216005 rs863224454 GRCh37: 5:148407708-148407709
GRCh38: 5:149028145-149028146
6 MTMR2 NM_016156.5(MTMR2):c.1034del (p.Asn345fs) Deletion Pathogenic 216114 rs863224516 GRCh37: 11:95581023-95581023
GRCh38: 11:95847859-95847859
7 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
8 SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) SNV Pathogenic 216120 rs776221160 GRCh37: 5:148427425-148427425
GRCh38: 5:149047862-149047862
9 SH3TC2 NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) SNV Pathogenic 220821 rs864622663 GRCh37: 5:148427493-148427493
GRCh38: 5:149047930-149047930
10 SH3TC2 NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) Deletion Pathogenic 216119 rs863224520 GRCh37: 5:148407633-148407633
GRCh38: 5:149028070-149028070
11 SH3TC2 NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) Deletion Pathogenic 241502 rs878855092 GRCh37: 5:148407205-148407223
GRCh38: 5:149027642-149027660
12 MTMR2 NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) SNV Pathogenic 241077 rs757563721 GRCh37: 11:95582999-95582999
GRCh38: 11:95849835-95849835
13 SH3TC2 NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) SNV Pathogenic 377021 rs80338930 GRCh37: 5:148406653-148406653
GRCh38: 5:149027090-149027090
14 FGD4 NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) SNV Pathogenic 408261 rs778377449 GRCh37: 12:32778681-32778681
GRCh38: 12:32625747-32625747
15 MTMR2 NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) Microsatellite Pathogenic 406679 rs1555057316 GRCh37: 11:95571312-95571313
GRCh38: 11:95838148-95838149
16 NDRG1 NM_006096.3(NDRG1):c.205+1G>A SNV Pathogenic 410952 rs1060503092 GRCh37: 8:134276789-134276789
GRCh38: 8:133264546-133264546
17 overlap with 2 genes NC_000005.10:g.(?_149062971)_(149063174_?)del Deletion Pathogenic 417400 GRCh37: 5:148442534-148442737
GRCh38: 5:149062971-149063174
18 SBF2-AS1 , SBF2 NM_030962.3(SBF2):c.5037+1G>A SNV Pathogenic 403859 rs1060499999 GRCh37: 11:9809180-9809180
GRCh38: 11:9787633-9787633
19 SBF2 , LOC101928008 NM_030962.3(SBF2):c.2536+1G>A SNV Pathogenic 403862 rs1060500001 GRCh37: 11:9875086-9875086
GRCh38: 11:9853539-9853539
20 SBF2 NC_000011.10:g.(?_10193902)_(10193987_?)del Deletion Pathogenic 417314 GRCh37: 11:10215449-10215534
GRCh38: 11:10193902-10193987
21 FIG4 NC_000006.12:g.(?_109691416)_(109691521_?)del Deletion Pathogenic 476840 GRCh37: 6:110012619-110012724
GRCh38: 6:109691416-109691521
22 SH3TC2 NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) Deletion Pathogenic 476892 rs1554121691 GRCh37: 5:148407426-148407427
GRCh38: 5:149027863-149027864
23 PRX NM_020956.2(PRX):c.*3219_*3220insT Insertion Pathogenic 543308 rs1301129751 GRCh37: 19:40901244-40901245
GRCh38: 19:40395337-40395338
24 FIG4 NM_014845.5(FIG4):c.1205del (p.Asn402fs) Deletion Pathogenic 543302 rs1554303800 GRCh37: 6:110081519-110081519
GRCh38: 6:109760316-109760316
25 SH3TC2 NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) SNV Pathogenic 543354 rs1554121665 GRCh37: 5:148407317-148407317
GRCh38: 5:149027754-149027754
26 MTMR2 NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) Microsatellite Pathogenic 543342 rs1358449243 GRCh37: 11:95595159-95595160
GRCh38: 11:95861995-95861996
27 FGD4 NM_001304481.1(FGD4):c.2118_2119CA[1] (p.Thr707fs) Microsatellite Pathogenic 543407 rs1555223595 GRCh37: 12:32786584-32786585
GRCh38: 12:32633650-32633651
28 SH3TC2 NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) Deletion Pathogenic 543408 rs1222150652 GRCh37: 5:148388457-148388467
GRCh38: 5:149008894-149008904
29 PRX NC_000019.10:g.(?_40403686)_(40403882_?)del Deletion Pathogenic 543513 GRCh37: 19:40909593-40909789
GRCh38: 19:40403686-40403882
30 SH3TC2 NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) SNV Pathogenic 566412 rs1561764735 GRCh37: 5:148406877-148406877
GRCh38: 5:149027314-149027314
31 SBF2-AS1 , SBF2 NM_030962.3(SBF2):c.4443+1G>A SNV Pathogenic 566898 rs1564872328 GRCh37: 11:9829546-9829546
GRCh38: 11:9807999-9807999
32 FGD4 NM_139241.3(FGD4):c.991del (p.Gln331fs) Deletion Pathogenic 570318 rs1393673267 GRCh37: 12:32755249-32755249
GRCh38: 12:32602315-32602315
33 SH3TC2 NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) Deletion Pathogenic 570428 rs1561765311 GRCh37: 5:148407772-148407775
GRCh38: 5:149028209-149028212
34 FIG4 NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) SNV Pathogenic 567685 rs1554309093 GRCh37: 6:110113794-110113794
GRCh38: 6:109792591-109792591
35 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg) SNV Pathogenic 38445 rs63749871 GRCh37: 12:32755151-32755151
GRCh38: 12:32602217-32602217
36 PRX NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) SNV Pathogenic 574671 rs752192677 GRCh37: 19:40904677-40904677
GRCh38: 19:40398770-40398770
37 SBF2 , LOC101928008 NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) SNV Pathogenic 574771 rs1564923441 GRCh37: 11:9879922-9879922
GRCh38: 11:9858375-9858375
38 SBF2 NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) Deletion Pathogenic 574817 rs1270869520 GRCh37: 11:10315596-10315597
GRCh38: 11:10294049-10294050
39 SH3TC2 NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) SNV Pathogenic 579413 rs761972717 GRCh37: 5:148386523-148386523
GRCh38: 5:149006960-149006960
40 PRX NM_020956.2(PRX):c.*3413C>T SNV Pathogenic 4794 rs104894708 GRCh37: 19:40901051-40901051
GRCh38: 19:40395144-40395144
41 FIG4 NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) Microsatellite Pathogenic 572934 rs750712213 GRCh37: 6:110112681-110112682
GRCh38: 6:109791478-109791479
42 SBF2 NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) SNV Pathogenic 581182 rs774667470 GRCh37: 11:9853897-9853897
GRCh38: 11:9832350-9832350
43 FGD4 NC_000012.12:g.(?_32576352)_(32619876_?)del Deletion Pathogenic 584336 GRCh37: 12:32729286-32772810
GRCh38: 12:32576352-32619876
44 PRX NM_020956.2(PRX):c.353del (p.Lys118fs) Deletion Pathogenic 577125 rs1568710514 GRCh37: 19:40904555-40904555
GRCh38: 19:40398648-40398648
45 SBF2 NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) Deletion Pathogenic 582946 rs1565115957 GRCh37: 11:10022499-10022568
GRCh38: 11:10000952-10001021
46 SH3TC2 NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) SNV Pathogenic 583373 rs1561764925 GRCh37: 5:148407149-148407149
GRCh38: 5:149027586-149027586
47 FIG4 NC_000006.12:g.(?_109741424)_(109743792_?)del Deletion Pathogenic 583457 GRCh37: 6:110062627-110064995
GRCh38: 6:109741424-109743792
48 SH3TC2 NC_000005.10:g.(?_149047842)_(149048009_?)del Deletion Pathogenic 643156 GRCh37: 5:148427405-148427572
GRCh38: 5:149047842-149048009
49 FIG4 NM_014845.5(FIG4):c.1666dup (p.Thr556fs) Duplication Pathogenic 355040 rs772320287 GRCh37: 6:110088010-110088011
GRCh38: 6:109766807-109766808
50 MTMR2 NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs) Deletion Pathogenic 647003 rs1590974596 GRCh37: 11:95574803-95574806
GRCh38: 11:95841639-95841642

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

72
# 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 endosome GO:0005768 9.65 VAC14 SBF2 MTMR2 LITAF FIG4
2 late endosome membrane GO:0031902 9.33 VAC14 LITAF FIG4
3 vacuolar membrane GO:0005774 9.32 SBF2 MTMR2
4 early endosome membrane GO:0031901 9.26 VAC14 MTMR2 LITAF FIG4
5 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 GO:0042552 9.43 SBF2 MPZ EGR2
4 mitochondrial fusion GO:0008053 9.4 MFN2 GDAP1
5 negative regulation of myelination GO:0031642 9.32 MTMR2 FIG4
6 myelin assembly GO:0032288 9.13 PMP22 MTMR2 FIG4
7 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
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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