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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

LDHA ABCC9


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
LDHA
Hypertrichotic osteochondrodysplasia, Cantu type
ABCC9



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)