Neuropathy, congenital hypomyelinating, 1, autosomal recessive

Preferred Label : Neuropathy, congenital hypomyelinating, 1, autosomal recessive;

Symbol : CHN1;

CISMeF acronym : CHN; CMT4E; CHN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomyelination, severe congenital; Charcot-marie-tooth disease, demyelinating, type 4e; Charcot-marie-tooth neuropathy, type 4e; CMT4E; Neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive;

Included titles and symbols : Neuropathy, congenital hypomyelinating, 1, autosomal dominant;

Description : Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900), because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve. There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome.;

Inheritance : Autosomal recessive; Autosomal dominant (in 1 patient);

Molecular basis : Caused by mutation in the early growth response-2 gene (EGR2, 129010.0001);

Prefixed ID : #605253;

Details

Origin ID

605253;

UMLS CUI

C4721436;

Automatic exact mappings (from CISMeF team)
- CHN1 Gene [NCIt concept]
- CHN1 wt Allele [NCIt concept]
- Chinook Jargon Language [NCIt concept]
- Community Health Nurse Specialist [NCIt concept]
- EGR2 wt Allele [NCIt concept]
- N-Chimaerin [NCIt concept]
- NR4A3 wt Allele [NCIt concept]
- chimerin 1 [HGNC gene]
- chimerin 1 [ORDO Gene]
- nuclear receptor subfamily 4 group A member 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease type 4E [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4E [MeSH concept]
- Charcot-Marie-Tooth disease, type 4E [MeSH Supplementary Concept]
- Congenital hypomyelinating neuropathy (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4E [DO Concept]
False automatic mappings
- China [NCIt concept]
Genes related to phenotype
- Early growth response 2 [OMIM gene]
HPO term(s)
- Abnormal cranial nerve morphology [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita may occur [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Onion bulb formation [HPO term]
- Peripheral hypomyelination [HPO term]
- Peripheral neuropathy [HPO term]
- Respiratory insufficiency [HPO term]
- Severe peripheral hypomyelination [HPO term]
- Severely decreased motor nerve conduction velocity [HPO term]
- Upper limb muscle weakness [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease, Type 4E [MeSH concept]
- Charcot-Marie-Tooth disease, type 4E [MeSH Supplementary Concept]
- Congenital hypomyelinating neuropathy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Charcot Marie Tooth disease type 4 [Disease (Nov.)]

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