Hypertrophic neuropathy of dejerine-sottas

Preferred Label : Hypertrophic neuropathy of dejerine-sottas;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, type 3; Dejerine-sottas syndrome; CMT3; DSN; Hereditary motor and sensory neuropathy type III; DSS; Dejerine-sottas neuropathy; HMSN3;

Description : Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the early growth response-2 gene (EGR2, 129010.0004); Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0006); Caused by mutation in the myelin protein zero gene (MPZ, 159440.0004); Caused by mutation in the periaxin gene (PRX, 605725.0001);

Prefixed ID : #145900;

Details

Origin ID

145900;

UMLS CUI

C0011195;

Automatic exact mappings (from CISMeF team)
- 46,XY sex reversal 2 [DO Concept]
- CMT-3 [MeSH concept]
- DHPS wt Allele [NCIt concept]
- Dengue shock syndrome (disorder) [SNOMED CT concept]
- Diethyl Sulfate [NCIt concept]
- Disproportionate short stature (disorder) [SNOMED CT concept]
- NR0B1 wt Allele [NCIt concept]
- PMP22 wt Allele [NCIt concept]
- dengue shock syndrome [DO Concept]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
- tetracycline CMT-3 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 3 [DO Concept]
- Dejerine-Sottas Neuropathy [NCIt concept]
- Dejerine-Sottas neuropathy [PASCAL descriptor]
- Dejerine-Sottas syndrome [ICD-11 More detail]
- Dejerine-Sottas syndrome [ORDO Disease]
- Déjérine-Sottas disease (disorder) [SNOMED CT concept]
- HMSN type III [MeSH concept]
- dejerine-sottas disease [SNOMED Notion]
- hereditary motor and sensory polyneuropathy type III [Disease (Nov.)]
DO Cross reference
- Charcot-Marie-Tooth disease type 3 [DO Concept]
False automatic mappings
- Disulfiram [NCIt concept]
Genes related to phenotype
- Early growth response 2 [OMIM gene]
- Myelin protein zero [OMIM gene]
- Periaxin [OMIM gene]
- Peripheral myelin protein 22 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [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]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Generalized hypotonia [HPO term]
- Hammertoe [HPO term]
- Heterogeneous [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Onion bulb formation [HPO term]
- Pes cavus [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Sensory ataxia [HPO term]
- Severely decreased motor nerve conduction velocity [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Ulnar claw [HPO term]
- Variable expressivity [HPO term]
Matching ORDO disease(s)
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]
ORDO concept(s)
- Dejerine-Sottas syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dejerine-Sottas Neuropathy [NCIt concept]
- Dejerine-Sottas syndrome [ORDO Disease]
- Déjérine-Sottas disease (disorder) [SNOMED CT concept]
- HMSN type III [MeSH concept]
- dejerine-sottas disease [SNOMED Notion]
- hereditary motor and sensory polyneuropathy type III [Disease (Nov.)]

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