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 39 54
Autosomal Recessive Congenital Hypomyelinating Neuropathy 54
Congenital Hypomyelinating Neuropathy 74
Charcot-Marie-Tooth Disease Type 4e 54
Cmt4e 54

Classifications:



External Ids:

UMLS 74 C0393818

Summaries for Congenital Hypomyelination Neuropathy

MalaCards based summary : Congenital Hypomyelination Neuropathy, also known as autosomal recessive congenital hypomyelinating neuropathy, is related to neuropathy and neuropathy, congenital hypomyelinating, 1, autosomal recessive. 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 36)
# Related Disease Score Top Affiliating Genes
1 neuropathy 31.1 MPZ PMP22
2 neuropathy, congenital hypomyelinating, 1, autosomal recessive 12.1
3 neuropathy, congenital hypomyelinating, 2 11.8
4 neuropathy, congenital hypomyelinating, 3 11.8
5 boylan dew greco syndrome 11.5
6 hirschsprung disease 1 10.0
7 charcot-marie-tooth hereditary neuropathy 10.0 MPZ PMP22
8 foot drop 10.0 MPZ PMP22
9 roussy-levy hereditary areflexic dystasia 10.0 MPZ PMP22
10 charcot-marie-tooth disease, demyelinating, type 1f 10.0 MPZ PMP22
11 tooth disease 10.0 MPZ PMP22
12 charcot-marie-tooth disease, axonal, type 2d 10.0 MPZ PMP22
13 charcot-marie-tooth disease, x-linked dominant, 1 10.0 MPZ PMP22
14 charcot-marie-tooth disease, demyelinating, type 1c 10.0 MPZ PMP22
15 charcot-marie-tooth disease, demyelinating, type 1b 10.0 MPZ PMP22
16 charcot-marie-tooth disease, axonal, type 2b 10.0 MPZ PMP22
17 motor peripheral neuropathy 9.9 MPZ PMP22
18 charcot-marie-tooth disease, demyelinating, type 1a 9.9 MPZ PMP22
19 chronic inflammatory demyelinating polyradiculoneuropathy 9.9 MPZ PMP22
20 charcot-marie-tooth disease, demyelinating, type 1d 9.9 MPZ PMP22
21 neuropathy, hereditary, with liability to pressure palsies 9.9 MPZ PMP22
22 charcot-marie-tooth disease and deafness 9.9 MPZ PMP22
23 hypertrophic neuropathy of dejerine-sottas 9.9 MPZ PMP22
24 sensory peripheral neuropathy 9.8 MPZ PMP22
25 neuromuscular disease 9.8 MPZ PMP22
26 acute disseminated encephalomyelitis 9.8 MBP MPZ
27 optic neuritis 9.8 MBP MPZ
28 charcot-marie-tooth disease, axonal, type 2e 9.7 MPZ PMP22
29 polyradiculoneuropathy 9.5 MBP MPZ PMP22
30 pelizaeus-merzbacher disease 9.5 MBP MPZ PMP22
31 guillain-barre syndrome 9.5 MBP MPZ PMP22
32 neuritis 9.5 MBP MPZ PMP22
33 polyneuropathy 9.5 MBP MPZ PMP22
34 peripheral nervous system disease 9.5 MBP MPZ PMP22
35 charcot-marie-tooth disease 9.5 MBP MPZ PMP22
36 multiple sclerosis 9.5 MBP MPZ

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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