ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
1 associated gene
18 signs/symptoms

Glycogen storage disease due to muscle beta-enolase deficiency

Spondyloepiphyseal dysplasia tarda


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ENO3	(0.63)	TRAPPC2

Citations in the biomedical literature:

Glycogen storage disease due to muscle beta-enolase deficiency		Spondyloepiphyseal dysplasia tarda
	Synonym(s): - GSD due to muscle beta-enolase deficiency - GSDXIII - Glycogenosis due to muscle beta-enolase deficiency - Glycogenosis type 13 - Muscle enolase deficiency - Muscular enolase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Spondyloepiphyseal dysplasia tarda
	Very frequent - Articular / joint pain / arthralgia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Kyphosis - Osteoarthritis - Platyspondyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism - X-linked recessive inheritance Frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lordosis - Odontoid hypoplasia - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Short neck Occasional - Autosomal dominant inheritance - Autosomal recessive inheritance
Glycogen storage disease due to muscle beta-enolase deficiency
(no data available)