ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
38 signs/symptoms

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Hypertrichotic osteochondrodysplasia, Cantu type


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

Citations in the biomedical literature:

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		Hypertrichotic osteochondrodysplasia, Cantu type
	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		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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

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)