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Dejerine-Sottas syndrome

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

PROTEIN INTERACTIONS: 1

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Dejerine-Sottas syndrome

Spondylocarpotarsal synostosis

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PMP22	(0.63)	FLNB

Citations in the biomedical literature:

Dejerine-Sottas syndrome		Spondylocarpotarsal synostosis
	Synonym(s): - Charcot-Marie-Tooth disease type 3 - HMSN 3 - Hereditary motor and sensory neuropathy type 3 - Hypertrophic neuropathy of infancy		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538392		External references: 1 OMIM reference - No MeSH references

Spondylocarpotarsal synostosis
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss
Dejerine-Sottas syndrome
(no data available)