CHN2
MCID: NRP064
MIFTS: 19

Neuropathy, Congenital Hypomyelinating, 2 (CHN2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 2

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 2:

Name: Neuropathy, Congenital Hypomyelinating, 2 58 76
Hypomyelinating Neuropathy, Congenital, 2 58 76
Chn2 58 76
Congenital Hypomyelinating Neuropathy 2 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset at birth or in utero


Classifications:



External Ids:

OMIM 58 618184
MeSH 45 D015417

Summaries for Neuropathy, Congenital Hypomyelinating, 2

OMIM : 58 Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996). CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253). (618184)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 2, also known as hypomyelinating neuropathy, congenital, 2, is related to schizophrenia and kuru. An important gene associated with Neuropathy, Congenital Hypomyelinating, 2 is MPZ (Myelin Protein Zero).

UniProtKB/Swiss-Prot : 76 Neuropathy, congenital hypomyelinating, 2: A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant.

Related Diseases for Neuropathy, Congenital Hypomyelinating, 2

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Neuropathy, Congenital Hypomyelinating, 2 Neuropathy, Congenital Hypomyelinating, 3

Diseases related to Neuropathy, Congenital Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schizophrenia 11.3
2 kuru 11.3
3 hepatosplenic t-cell lymphoma 11.3
4 diabetes mellitus, noninsulin-dependent 10.2

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 2

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
inability to walk
poor head control
delayed walking
delayed motor development, severe

Muscle Soft Tissue:
hypokinesia
muscle atrophy
hypotonia, severe
poor fiber type differentiation caused by abnormal innervation seen on muscle biopsy

Skeletal Feet:
foot deformities

Abdomen Gastrointestinal:
poor swallowing due to muscle weakness

Skeletal Hands:
arthrogryposis of the hands

Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased motor nerve conduction velocities, severe (less than 10 m/s)
absent sensory conduction
little or no compact myelin seen on sural nerve biopsy
more
Head And Neck Face:
facial diplegia

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal:
contractures, distal (in some patients)

Clinical features from OMIM:

618184

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 2

Search Clinical Trials , NIH Clinical Center for Neuropathy, Congenital Hypomyelinating, 2

Genetic Tests for Neuropathy, Congenital Hypomyelinating, 2

Anatomical Context for Neuropathy, Congenital Hypomyelinating, 2

Publications for Neuropathy, Congenital Hypomyelinating, 2

Variations for Neuropathy, Congenital Hypomyelinating, 2

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPZ MPZ, 3-BP DEL/1-BP INS, NT550 indel Pathogenic
2 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
3 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
4 RHO NM_000539.3(RHO): c.549dup (p.Gln184Alafs) duplication Pathogenic GRCh37 Chromosome 3, 129251112: 129251112
5 RHO NM_000539.3(RHO): c.549dup (p.Gln184Alafs) duplication Pathogenic GRCh38 Chromosome 3, 129532269: 129532269

Expression for Neuropathy, Congenital Hypomyelinating, 2

Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 2.

Pathways for Neuropathy, Congenital Hypomyelinating, 2

GO Terms for Neuropathy, Congenital Hypomyelinating, 2

Cellular components related to Neuropathy, Congenital Hypomyelinating, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 MPZ RHO

Sources for Neuropathy, Congenital Hypomyelinating, 2

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
Content
Loading form....