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Spondyloepiphyseal dysplasia congenita

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Spondyloepiphyseal dysplasia congenita

CARASIL

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.63)	HTRA1

Citations in the biomedical literature:

Spondyloepiphyseal dysplasia congenita		CARASIL
	Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease		Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive

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

Spondyloepiphyseal dysplasia congenita
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Cataract / lens opacification - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Myopia - Nystagmus - Retinal detachment - Scoliosis
CARASIL
(no data available)