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Dejerine-Sottas syndrome

1 OMIM reference -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Spondyloenchondrodysplasia

1 OMIM reference -
1 associated gene
12 signs/symptoms

Dejerine-Sottas syndrome

Spondyloenchondrodysplasia

EGR2	(UniProt - OMIM)		ACP5	(UniProt - OMIM)
MPZ	(UniProt - OMIM)
PMP22	(UniProt - OMIM)
PRX	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EGR2	(0.63)	ACP5

Citations in the biomedical literature:

Dejerine-Sottas syndrome		Spondyloenchondrodysplasia
	Synonym(s): - Charcot-Marie-Tooth disease type 3 - HMSN 3 - Hereditary motor and sensory neuropathy type 3 - Hypertrophic neuropathy of infancy		Synonym(s): - SPENCD - Spondyloenchondromatosis - Spondylometaphyseal dysplasia with enchondromatous changes

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538392		External references: 1 OMIM reference - 1 MeSH reference: C535782

Spondyloenchondrodysplasia
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Enchondroses - Kyphosis - Lordosis - Metaphyseal anomaly - Rhizomelic micromelia - Short stature / dwarfism / nanism Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Epiphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
Dejerine-Sottas syndrome
(no data available)