MCID: CNG102
MIFTS: 21

Congenital Hypomyelination Neuropathy

Categories: Neuronal diseases, Rare 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 33.0 MPZ PMP22
2 neuropathy 31.0 MPZ PMP22
3 boylan dew greco syndrome 11.5
4 hirschsprung disease 1 10.0
5 charcot-marie-tooth hereditary neuropathy 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 tooth disease 10.0 MPZ PMP22
10 charcot-marie-tooth disease, axonal, type 2d 10.0 MPZ PMP22
11 charcot-marie-tooth disease, x-linked dominant, 1 10.0 MPZ PMP22
12 charcot-marie-tooth disease, demyelinating, type 1c 10.0 MPZ PMP22
13 neuropathy - hereditary 10.0 MPZ PMP22
14 charcot-marie-tooth disease, demyelinating, type 1b 10.0 MPZ PMP22
15 charcot-marie-tooth disease, axonal, type 2b 10.0 MPZ PMP22
16 motor peripheral neuropathy 10.0 MPZ PMP22
17 charcot-marie-tooth disease, demyelinating, type 1a 10.0 MPZ PMP22
18 chronic inflammatory demyelinating polyradiculoneuropathy 10.0 MPZ PMP22
19 charcot-marie-tooth disease, demyelinating, type 1d 10.0 MPZ PMP22
20 neuropathy, hereditary, with liability to pressure palsies 9.9 MPZ PMP22
21 charcot-marie-tooth disease and deafness 9.9 MPZ PMP22
22 hypertrophic neuropathy of dejerine-sottas 9.9 MPZ PMP22
23 sensory peripheral neuropathy 9.9 MPZ PMP22
24 acute disseminated encephalomyelitis 9.9 MBP MPZ
25 optic neuritis 9.9 MBP MPZ
26 neuromuscular disease 9.8 MPZ PMP22
27 charcot-marie-tooth disease, axonal, type 2e 9.8 MPZ PMP22
28 polyradiculoneuropathy 9.7 MBP MPZ PMP22
29 pelizaeus-merzbacher disease 9.7 MBP MPZ PMP22
30 guillain-barre syndrome 9.7 MBP MPZ PMP22
31 neuritis 9.7 MBP MPZ PMP22
32 polyneuropathy 9.7 MBP MPZ PMP22
33 peripheral nervous system disease 9.7 MBP MPZ PMP22
34 charcot-marie-tooth disease 9.7 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 12)
# Title Authors Year
1
A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. ( 30239779 )
2018
2
Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses. ( 11694679 )
2001
3
PMP22 related congenital hypomyelination neuropathy. ( 11118262 )
2001
4
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. ( 10399754 )
1999
5
Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region. ( 8747859 )
1995
6
Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. ( 7608732 )
1995
7
Congenital hypomyelination neuropathy in a lamb. ( 8116153 )
1993
8
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. ( 1637141 )
1992
9
Two cases of congenital hypomyelination neuropathy. ( 6099985 )
1984
10
Congenital hypomyelination neuropathy in a newborn. ( 6312355 )
1983
11
Congenital hypomyelination neuropathy: glial bundles in cranial and spinal nerve roots. ( 7325606 )
1981
12
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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