MCID: CNG102
MIFTS: 22

Congenital Hypomyelination Neuropathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Congenital Hypomyelination Neuropathy

MalaCards integrated aliases for Congenital Hypomyelination Neuropathy:

Name: Congenital Hypomyelination Neuropathy 38 53
Autosomal Recessive Congenital Hypomyelinating Neuropathy 53
Congenital Hypomyelinating Neuropathy 73
Charcot-Marie-Tooth Disease Type 4e 53
Cmt4e 53

Classifications:



External Ids:

UMLS 73 C0393818

Summaries for Congenital Hypomyelination Neuropathy

MalaCards based summary : Congenital Hypomyelination Neuropathy, also known as autosomal recessive congenital hypomyelinating neuropathy, is related to neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive and neuropathy. An important gene associated with Congenital Hypomyelination Neuropathy is MPZ (Myelin Protein Zero), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include Peripheral Nervous System.

Related Diseases for Congenital Hypomyelination Neuropathy

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 32.4 MPZ PMP22
2 neuropathy 29.6 MPZ PMP22
3 boylan dew greco syndrome 11.4
4 hereditary neuropathy with liability to pressure palsy 10.0 MPZ PMP22
5 charcot-marie-tooth neuropathy type 1 10.0 MPZ PMP22
6 foot drop 10.0 MPZ PMP22
7 roussy-levy hereditary areflexic dystasia 10.0 MPZ PMP22
8 charcot-marie-tooth disease, demyelinating, type 1f 10.0 MPZ PMP22
9 charcot-marie-tooth disease, demyelinating, type 1c 10.0 MPZ PMP22
10 charcot-marie-tooth disease, demyelinating, type 1b 10.0 MPZ PMP22
11 neuropathy, hereditary, with liability to pressure palsies 10.0 MPZ PMP22
12 charcot-marie-tooth disease, axonal, type 2b 10.0 MPZ PMP22
13 motor peripheral neuropathy 10.0 MPZ PMP22
14 charcot-marie-tooth disease, demyelinating, type 1a 9.9 MPZ PMP22
15 chronic inflammatory demyelinating polyradiculoneuropathy 9.9 MPZ PMP22
16 charcot-marie-tooth disease, demyelinating, type 1d 9.9 MPZ PMP22
17 hirschsprung disease 1 9.9
18 charcot-marie-tooth disease and deafness 9.9 MPZ PMP22
19 hypertrophic neuropathy of dejerine-sottas 9.8 MPZ PMP22
20 sensory peripheral neuropathy 9.8 MPZ PMP22
21 peripheral nervous system disease 9.8 MPZ PMP22
22 diabetic neuropathy 9.8 MPZ PMP22
23 niemann-pick disease, type a 9.7 MBP MPZ
24 neuromuscular disease 9.7 MPZ PMP22
25 optic neuritis 9.6 MBP MPZ
26 charcot-marie-tooth disease, axonal, type 2e 9.6 MPZ PMP22
27 tooth disease 9.5 MPZ PMP22
28 hereditary neuropathies 9.1 MBP MPZ PMP22
29 polyradiculoneuropathy 9.1 MBP MPZ PMP22
30 pelizaeus-merzbacher disease 9.1 MBP MPZ PMP22
31 guillain-barre syndrome 9.1 MBP MPZ PMP22
32 neuritis 9.1 MBP MPZ PMP22
33 polyneuropathy 9.1 MBP MPZ PMP22
34 charcot-marie-tooth disease 8.9 MBP MPZ PMP22

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



Diseases related to Congenital Hypomyelination Neuropathy

Symptoms & Phenotypes for Congenital Hypomyelination Neuropathy

Drugs & Therapeutics for Congenital Hypomyelination Neuropathy

Search Clinical Trials , NIH Clinical Center for Congenital Hypomyelination Neuropathy

Genetic Tests for Congenital Hypomyelination Neuropathy

Anatomical Context for Congenital Hypomyelination Neuropathy

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

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

Publications for Congenital Hypomyelination Neuropathy

Articles related to Congenital Hypomyelination Neuropathy:

(show all 18)
# Title Authors Year
1
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. ( 27668699 )
2017
2
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy. ( 26921370 )
2016
3
Novel MPZ mutations and congenital hypomyelinating neuropathy. ( 20621479 )
2010
4
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. ( 17825553 )
2008
5
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. ( 16872830 )
2006
6
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. ( 12953275 )
2003
7
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. ( 12447940 )
2002
8
Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses. ( 11694679 )
2001
9
PMP22 related congenital hypomyelination neuropathy. ( 11118262 )
2001
10
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. ( 10399754 )
1999
11
Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region. ( 8747859 )
1995
12
Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. ( 7608732 )
1995
13
Congenital hypomyelination neuropathy in a lamb. ( 8116153 )
1993
14
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. ( 1637141 )
1992
15
Two cases of congenital hypomyelination neuropathy. ( 6099985 )
1984
16
Congenital hypomyelination neuropathy in a newborn. ( 6312355 )
1983
17
Congenital hypomyelination neuropathy: glial bundles in cranial and spinal nerve roots. ( 7325606 )
1981
18
A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. ( 871259 )
1977

Variations for Congenital Hypomyelination Neuropathy

Expression for Congenital Hypomyelination Neuropathy

Search GEO for disease gene expression data for Congenital Hypomyelination Neuropathy.

Pathways for Congenital Hypomyelination Neuropathy

Pathways related to Congenital Hypomyelination Neuropathy according to GeneCards Suite gene sharing:

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

GO Terms for Congenital Hypomyelination Neuropathy

Cellular components related to Congenital Hypomyelination Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.96 MBP MPZ
2 compact myelin GO:0043218 8.62 MBP PMP22

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.13 MBP MPZ PMP22
2 myelination GO:0042552 8.8 MBP MPZ PMP22

Sources for Congenital Hypomyelination Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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