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Spondyloenchondrodysplasia

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Charcot-Marie-Tooth disease type 1D

1 OMIM reference -
1 associated gene
No signs/symptoms info

Spondyloenchondrodysplasia

Charcot-Marie-Tooth disease type 1D

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Spondyloenchondrodysplasia		Charcot-Marie-Tooth disease type 1D
	Synonym(s): - SPENCD - Spondyloenchondromatosis - Spondylometaphyseal dysplasia with enchondromatous changes		Synonym(s): - CMT1D

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C535782		External references: 1 OMIM reference - 1 MeSH reference: C537985

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
Charcot-Marie-Tooth disease type 1D
(no data available)