|
CHN2
MCID: NRP064
MIFTS: 35
|
Neuropathy, Congenital Hypomyelinating, 2 (CHN2)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
|
|
MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 2:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable severity onset at birth or in utero HPO:31
neuropathy, congenital hypomyelinating, 2:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Respiratory diseases Muscle diseases |
|
OMIM® :
57
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) (Updated 20-May-2021)
MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 2, also known as hypomyelinating neuropathy, congenital, 2, is related to schizophrenia and duodenum adenocarcinoma. An important gene associated with Neuropathy, Congenital Hypomyelinating, 2 is MPZ (Myelin Protein Zero). Affiliated tissues include skeletal muscle, cortex and kidney, and related phenotypes are scoliosis and skeletal muscle atrophy UniProtKB/Swiss-Prot : 72 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. |
Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 2:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618184 (Updated 20-May-2021) |
|
|
MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating, 2:40
Skeletal Muscle,
Cortex,
Kidney,
Colon,
Thyroid,
Ovary,
Myeloid
|
Articles related to Neuropathy, Congenital Hypomyelinating, 2:(show top 50) (show all 163)
|
Genes related to Neuropathy, Congenital Hypomyelinating, 2 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:6 (show all 35)
UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:72
|
|
Search
GEO
for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 2.
|
|
|
|