ODCs

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1 OMIM reference -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hypertrichotic osteochondrodysplasia, Cantu type

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ABCC9	(0.73)	LDHA

Citations in the biomedical literature:

Hypertrichotic osteochondrodysplasia, Cantu type		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
	Synonym(s): (no synonyms)		Synonym(s): - GSD due to lactate dehydrogenase M-subunit deficiency - GSD type 11 - Glycogen storage disease type 11 - Glycogenosis due to lactate dehydrogenase M-subunit deficiency - Glycogenosis type 11 - LDH-M subunit deficiency - Lactate dehydrogenase A deficiency

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C535572		External references: 1 OMIM reference - No MeSH references

Hypertrichotic osteochondrodysplasia, Cantu type
	Very frequent - Cardiomegaly - Coarse face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hirsutism / hypertrichosis / Increased body hair - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low hair line (back) - Low hair line-front - Macrostomia / big mouth - Metaphyseal anomaly - Thick lips - Thick / bushy eyebrows Frequent - Abnormal sole / deep creases - Abnormal vertebral size / shape - Anteverted nares / nostrils - Broad nose / nasal bridge - Broad / bifid big toe - Delayed bone age - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Narrow / sloping shoulders - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Patent ductus arteriosus - Platyspondyly - Prominent supraorbital ridge - Rib structure anomalies - Short big toe - Short neck - Terminal / third phalangeal bone of fingers hypoplasia - Umbilical hernia Occasional - Advanced bone age - Autosomal dominant inheritance - Cardiac valvulopathy - Cardiomyopathy / hypertrophic / dilated - Syndactyly of fingers / interdigital palm
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
(no data available)