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Dejerine-Sottas syndrome
1 OMIM reference -
4 associated genes
41 connected diseases
No signs/symptoms info
Disease Type of connection
Roussy-Lévy syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1E
Hereditary neuropathy with liability to pressure palsies
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Methylmalonic acidemia with homocystinuria, type cblX
X-linked non-syndromic intellectual deficit
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Autosomal recessive primary microcephaly
Alternating hemiplegia of childhood
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Chronic myeloid leukemia
Distal myopathy with posterior leg and anterior hand involvement
Familial or sporadic hemiplegic migraine
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Isolated NADH-CoQ reductase deficiency
Muscle filaminopathy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spondylocarpotarsal synostosis
Spondyloenchondrodysplasia
Solitary fibrous tumor
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Synonym(s):
- Charcot-Marie-Tooth disease type 3
- HMSN 3
- Hereditary motor and sensory neuropathy type 3
- Hypertrophic neuropathy of infancy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C538392
Gene symbol UniProt reference OMIM reference
EGR2 P11161129010
MPZ P25189159440
PMP22 Q01453601097
PRX Q9BXM0605725
No signs/symptoms info available.