MCID: NRP015
MIFTS: 43

Neuropathy, Congenital Hypomyelinating malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating

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Sources:
50OMIM, 46NIH Rare Diseases, 48Novoseek, 12diseasecard, 11Disease Ontology, 13DISEASES, 69Wikipedia, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Neuropathy, Congenital Hypomyelinating:

Name: Neuropathy, Congenital Hypomyelinating 50 46 48
Congenital Hypomyelinating Neuropathy 46 23 25 66
Charcot-Marie-Tooth Disease Type 4e 46 52 68
Charcot-Marie-Tooth Disease Type 4 11 46 13
Cmt4e 46 52 68
Hereditary Motor and Sensory Neuropathy Russe Type 11 23
Neuropathy, Congenital Hypomyelinating, 1 50 12
Charcot Marie Tooth Disease Type 4e 46 25
Distal Hereditary Motor Neuropathy 11 69
Chn 46 68
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50
Congenital Hypomyelinating Neuropathy Autosomal Recessive 68
Autosomal Recessive Congenital Hypomyelinating Neuropathy 52
 
Congenital Hypomyelinating Neuropathy Autosomal Dominant 68
Neuropathy, Congenital Hypomyelinating or Amyelinating 68
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 46
Charcot-Marie-Tooth Neuropathy Type 4e 68
Hypomyelination, Severe Congenital 46
Congenital Amyelinating Neuropathy 68
Severe Congenital Hypomyelination 68
Congenital Hypomyelination 23
Spinal Cmt 11
Ar-Cmt1 46
Cmt 4e 46
Cmt4 46

Characteristics:

Orphanet epidemiological data:

52
charcot-marie-tooth disease type 4e:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
neuropathy, congenital hypomyelinating:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 605253
Disease Ontology11 DOID:0050541
Orphanet52 ORPHA99951
ICD10 via Orphanet29 G60.0
MESH via Orphanet38 C535301
MeSH37 D002607

Summaries for Neuropathy, Congenital Hypomyelinating

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OMIM:50 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 charcot-marie-tooth disease, type 1b and distal hereditary motor neuropathy type v, and has symptoms including motor delay, areflexia and abnormality of the cranial nerves. An important gene associated with Neuropathy, Congenital Hypomyelinating is EGR2 (Early Growth Response 2), and among its related pathways is Adipogenesis. Related mouse phenotypes are limbs/digits/tail and cellular.

Disease Ontology:11 A charcot-marie-tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance.

NIH Rare Diseases:46 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:68 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 87)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1b28.0CHM, DNAJB2, GDAP1, HSPB1, HSPB8, MFN2
2distal hereditary motor neuropathy type v12.5
3distal hereditary motor neuropathy, type ii12.5
4x-linked charcot-marie-tooth disease type 412.4
5surf1-related charcot-marie-tooth disease type 412.4
6distal hereditary motor neuropathy type 712.2
7neuropathy, hereditary motor and sensory, russe type11.6
8congenital hypomyelination neuropathy11.4
9neuronopathy, distal hereditary motor, type viia11.4
10cowchock syndrome11.4
11neuronopathy, distal hereditary motor, type iic11.3
12neuropathy, distal hereditary motor, type viib11.3
13neuropathy, distal hereditary motor, type va11.3
14neuropathy, distal hereditary motor, type iib11.3
15neuronopathy, distal hereditary motor, type vi11.3
16neuropathy, distal hereditary motor, type iia11.3
17amyotrophic lateral sclerosis type 411.3
18neuronopathy, distal hereditary motor, type vb11.1
19spinal muscular atrophy, distal, autosomal recessive, 511.1
20neuronopathy, distal hereditary motor, type iid11.1
21neuronopathy, distal hereditary motor, type i11.1
22spinal muscular atrophy, distal, autosomal recessive, 211.1
23amyotrophic lateral sclerosis 4, juvenile11.1
24spinal muscular atrophy, distal, x-linked 311.1
25silver spastic paraplegia syndrome11.1
26spinal muscular atrophy, distal, autosomal recessive, 311.1
27distal spinal muscular atrophy 411.1
28charcot-marie-tooth neuropathy type 411.1
29charcot-marie-tooth neuropathy type 2o10.8HSPB8, MPZ
30smith-magenis syndrome10.8NR0B1, PMP22
31charcot-marie-tooth disease type 2o10.8HSPB8, MPZ
32hereditary orotic aciduria without megaloblastic anaemia10.7MPZ, PMP22
33congestive heart failure10.7MPZ, PMP22
34headache10.7MPZ, PMP22
35neuropathy, inflammatory demyelinating10.7NR0B1, PMP22
36charcot-marie-tooth disease, type 2i10.7CHM, MPZ, NR0B1
37charcot-marie-tooth disease, dominant intermediate d10.7CHM, MPZ, NR0B1
38charcot-marie-tooth disease, type 2j10.7CHM, MPZ, NR0B1
39secondary hypertrophic osteoarthropathy10.7MPZ, PMP22
40charcot-marie-tooth neuropathy type 2e/1f10.7EGR2, MPZ, PMP22
41ceroid lipofuscinosis, neuronal, 13, kufs type10.7BSCL2, GARS
42encephalopathy, progressive, with or without lipodystrophy10.6BSCL2, GARS
43multiple myeloma10.6BSCL2, GARS
44charcot-marie-tooth disease, type 1e10.6MPZ, NR0B1, PMP22
45berardinelli-seip congenital lipodystrophy10.6BSCL2, GARS
46glb1-related disorders10.6BSCL2, GARS
47anal canal adenocarcinoma10.6MPZ, PMP22
48guttmacher syndrome10.6BSCL2, GARS
49biotin-thiamine-responsive basal ganglia disease10.5AGPAT2, BSCL2
50ureter leiomyoma10.5PMP22, 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:

605253

Clinical features from OMIM:

605253

HPO human phenotypes related to Neuropathy, Congenital Hypomyelinating:

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

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 Neuropathy25 23 MPZ
2 Charcot-Marie-Tooth Disease, Type Iv25
3 Hereditary Motor and Sensory Neuropathy Russe Type23 HK1

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6AGPAT2, ATP7A, DCTN1, EGR2, GDAP1, PMP22
2MP:00053847.6ATP7A, BSCL2, DCTN1, EGR2, GDAP1, HSPB1
3MP:00036317.1ATP7A, CHM, DCTN1, EGR2, GARS, GDAP1
4MP:00053866.6AGPAT2, ATP7A, BSCL2, DCTN1, EGR2, GARS
5MP:00053766.2AGPAT2, ATP7A, BSCL2, CHM, DCTN1, EGR2

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:

68
id Symbol AA change Variation ID SNP ID
1EGR2p.Ile268AsnVAR_007735rs104894158
2MPZp.Thr124LysVAR_029978rs121913595

Clinvar genetic disease variations for Neuropathy, Congenital Hypomyelinating:

5
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 pathogenicrs754068936GRCh38Chr 1, 161306462: 161306462
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

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
19.8AGPAT2, BSCL2, EGR2

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
1peripheral nervous system developmentGO:000742210.3EGR2, PMP22
2endoplasmic reticulum tubular network organizationGO:007178610.1REEP1, REEP2
3regulation of intracellular transportGO:003238610.1REEP1, REEP2
4mitochondrial fusionGO:00080539.7GDAP1, MFN2
5response to unfolded proteinGO:00069869.3DNAJB2, HSPB1, MFN2

Sources for Neuropathy, Congenital Hypomyelinating

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet