Neuropathy, Congenital Hypomyelinating malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating

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65UMLS, 49OMIM, 45NIH Rare Diseases, 47Novoseek, 11diseasecard, 68Wikipedia, 10Disease Ontology, 12DISEASES, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Neuropathy, Congenital Hypomyelinating:

Name: Neuropathy, Congenital Hypomyelinating 49 45 47
Congenital Hypomyelinating Neuropathy 45 22 24 65
Charcot-Marie-Tooth Disease Type 4 10 68 45 12
Charcot-Marie-Tooth Disease Type 4e 45 51 67
Distal Hereditary Motor Neuropathy 10 68 45
Cmt4e 45 51 67
Hereditary Motor and Sensory Neuropathy Russe Type 10 22
Neuronopathy, Distal Hereditary Motor, Type V 68 65
Neuropathy, Congenital Hypomyelinating, 1 49 11
Charcot Marie Tooth Disease Type 4e 45 24
Dhmn-V 68 47
Chn 45 67
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 68
Autosomal Recessive Congenital Hypomyelinating Neuropathy 51
Congenital Hypomyelinating Neuropathy Autosomal Recessive 67
Congenital Hypomyelinating Neuropathy Autosomal Dominant 67
Neuropathy, Congenital Hypomyelinating or Amyelinating 67
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 45
Spinal Muscular Atrophy, Distal Type V 68
Charcot-Marie-Tooth Neuropathy Type 4e 67
Hereditary Motor Neuronopathy, Type V 68
Charcot-Marie-Tooth Disease, Type 4 68
Hypomyelination, Severe Congenital 45
Congenital Amyelinating Neuropathy 67
Severe Congenital Hypomyelination 67
Distal Spinal Muscular Atrophy V 22
Congenital Hypomyelination 22
Dejerine-Sottas Disease 65
Spinal Cmt 10
Ar-Cmt1 45
Dsma-V 22
Cmt 4e 45
Hmn V 68
Dhmn 68
Cmt4 45
Dsn 68
Dss 68


Orphanet epidemiological data:

charcot-marie-tooth disease type 4e:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


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


External Ids:

OMIM49 605253
Disease Ontology10 DOID:0050541
Orphanet51 99951
ICD10 via Orphanet28 G60.0
MESH via Orphanet37 C535301
MeSH36 D002607
UMLS65 C1833308, C0011195, C0393818

Summaries for Neuropathy, Congenital Hypomyelinating

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OMIM:49 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal... (605253) more...

MalaCards based summary: Neuropathy, Congenital Hypomyelinating, also known as congenital hypomyelinating neuropathy, is related to dejerine-sottas disease and charcot-marie-tooth disease, type 1b, and has symptoms including peripheral neuropathy, peripheral hypomyelination and distal amyotrophy. An important gene associated with Neuropathy, Congenital Hypomyelinating is EGR2 (Early Growth Response 2), and among its related pathways are Neural Crest Differentiation and Adipogenesis. Related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:10 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance.

NIH Rare Diseases:45 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. last updated: 3/8/2016

UniProtKB/Swiss-Prot:67 Neuropathy, congenital hypomyelinating or amyelinating: 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. Inheritance can be autosomal dominant or recessive.

Related Diseases for Neuropathy, Congenital Hypomyelinating

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1dejerine-sottas disease31.2CHM, EGR2, GARS, GDAP1, KIF1B, MPZ
2charcot-marie-tooth disease, type 1b28.3CHM, DNAJB2, GDAP1, HSPB1, HSPB8, KIF1B
3x-linked charcot-marie-tooth disease type 412.8
4distal hereditary motor neuropathy type v12.8
5distal hereditary motor neuropathy, type ii12.7
6surf1-related charcot-marie-tooth disease type 412.7
7distal hereditary motor neuropathy type 712.6
8young adult-onset distal hereditary motor neuropathy12.6
9neuropathy, hereditary motor and sensory, russe type11.9
10neuronopathy, distal hereditary motor, type viia11.8
11amyotrophic lateral sclerosis type 411.8
12neuronopathy, distal hereditary motor, type iic11.7
13neuropathy, distal hereditary motor, type viib11.7
14neuropathy, distal hereditary motor, type va11.7
15neuropathy, distal hereditary motor, type iib11.7
16neuronopathy, distal hereditary motor, type vi11.7
17neuropathy, distal hereditary motor, type iia11.7
18neuronopathy, distal hereditary motor, type vb11.5
19neuronopathy, distal hereditary motor, type iid11.5
20neuronopathy, distal hereditary motor, type i11.5
21spinal muscular atrophy, distal, autosomal recessive, 211.5
22spinal muscular atrophy, distal, x-linked 311.5
23spastic paraplegia 1711.5
24distal spinal muscular atrophy 411.5
25distal spinal muscular atrophy type 311.5
26charcot-marie-tooth neuropathy type 411.5
2746xy sex reversal 2, dosage-sensitive11.5
28congenital hypomyelination neuropathy11.4
29dengue shock syndrome11.3
30charcot-marie-tooth disease, type 4a10.8
31neuromyotonia and axonal neuropathy, autosomal recessive10.6
32potocki-lupski syndrome10.5NR0B1, PMP22
33charcot-marie-tooth neuropathy type 2n10.5HSPB8, MPZ
34congenital symblepharon10.5MPZ, PMP22
35transposition of the great arteries, dextro-looped 110.5HSPB8, MPZ
36charcot-marie-tooth disease type 2n10.5HSPB8, MPZ
37mcardle disease10.4BSCL2, GARS
38multiple myeloma10.4BSCL2, GARS
39charcot-marie-tooth disease, type 1e10.4NR0B1, PMP22
40baraitser-winter cerebrofrontofacial syndrome10.4BSCL2, GARS
41gata1-related x-linked cytopenia10.4BSCL2, GARS
42encephalopathy, progressive, with or without lipodystrophy10.4BSCL2, GARS
43hand-foot-uterus syndrome10.4BSCL2, GARS
44charcot-marie-tooth disease, type 2i10.4CHM, MPZ, NR0B1
45charcot-marie-tooth disease, dominant intermediate d10.4CHM, MPZ, NR0B1
46diabetes insipidus10.4
47charcot-marie-tooth disease, type 2j10.4CHM, MPZ, NR0B1
48charcot-marie-tooth neuropathy type 2a10.4EGR2, MPZ, PMP22
49neuropathy, recurrent, with pressure palsies10.4MPZ, NR0B1, PMP22
50ureteral benign neoplasm10.4PMP22, SH3TC2

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

Diseases related to neuropathy, congenital hypomyelinating

Symptoms for Neuropathy, Congenital Hypomyelinating

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Neuropathy, Congenital Hypomyelinating:

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

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neuropathy, Congenital Hypomyelinating

Genetic Tests for Neuropathy, Congenital Hypomyelinating

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Genetic tests related to Neuropathy, Congenital Hypomyelinating:

id Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy22 MPZ
2 Hereditary Motor and Sensory Neuropathy Russe Type22 HK1
3 Distal Spinal Muscular Atrophy V22 GARS

Anatomical Context for Neuropathy, Congenital Hypomyelinating

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Animal Models for Neuropathy, Congenital Hypomyelinating or affiliated genes

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MGI Mouse Phenotypes related to Neuropathy, Congenital Hypomyelinating:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.7ATP7A, CHM, EGR2, GARS, GDAP1, KIF1B
2MP:00053866.4AGPAT2, ATP7A, BSCL2, EGR2, GARS, GDAP1
3MP:00053766.1AGPAT2, ATP7A, BSCL2, CHM, EGR2, GDAP1

Publications for Neuropathy, Congenital Hypomyelinating

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Variations for Neuropathy, Congenital Hypomyelinating

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Neuropathy, Congenital Hypomyelinating:

id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
2EGR2NM_000399.4(EGR2): c.803T> A (p.Ile268Asn)single nucleotide variantPathogenicrs104894158GRCh37Chr 10, 64573595: 64573595
3EGR2NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg)single nucleotide variantPathogenicrs281865138GRCh37Chr 10, 64573252: 64573252
4MPZNM_000530.7(MPZ): c.451C> A (p.Pro151Thr)single nucleotide variantLikely pathogenicrs754068936GRCh37Chr 1, 161276252: 161276252
5SH3TC2NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter)single nucleotide variantPathogenicrs80338933GRCh37Chr 5, 148406435: 148406435
6SH3TC2NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His)single nucleotide variantPathogenicrs80359890GRCh37Chr 5, 148422281: 148422281
7EGR2NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg)single nucleotide variantPathogenicrs281865138GRCh37Chr 10, 64573252: 64573252
8EGR2NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr)single nucleotide variantPathogenicrs104894160GRCh37Chr 10, 64573251: 64573251
9NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971

Expression for genes affiliated with Neuropathy, Congenital Hypomyelinating

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

Pathways for genes affiliated with Neuropathy, Congenital Hypomyelinating

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

idSuper pathwaysScoreTop Affiliating Genes
19.8GARS, MPZ, PMP22

GO Terms for genes affiliated with Neuropathy, Congenital Hypomyelinating

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

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:004255210.0EGR2, PMP22

Sources for Neuropathy, Congenital Hypomyelinating

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet