ODCs

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1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Albers-SchÃ¶nberg osteopetrosis

Glycogen storage disease due to LAMP-2 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CLCN7	(0.52)	LAMP2

Citations in the biomedical literature:

Albers-SchÃ¶nberg osteopetrosis		Glycogen storage disease due to LAMP-2 deficiency
	Synonym(s): - Osteopetrosis autosomal dominant type 2		Synonym(s): - Danon disease - GSD due to LAMP-2 deficiency - Glycogenosis due to LAMP-2 deficiency - Lysosomal glycogen storage disease with normal acid maltase activity

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - 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: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: adult Type of inheritance: x-linked recessive

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

Albers-SchÃ¶nberg osteopetrosis		Glycogen storage disease due to LAMP-2 deficiency
	Very frequent - Arthritis / synovitis / synovial proliferation - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Epiphyseal anomaly - Facial palsy - Frontal bossing / prominent forehead - Joint dislocation / subluxation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Mutiple fractures / bone fragility - Osteoarthritis - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Osteonecrosis / bone infarction - Osteosclerosis / osteopetrosis / bone condensation - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anaemia - Genu valgum - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Occasional - Hearing loss / hypoacusia / deafness - Hydrocephaly - Hypocalcemia - Multiple caries - Red cell disorders - White cell disorders		Very frequent - Abnormal gait - Cardiomyopathy / hypertrophic / dilated - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle weakness / flaccidity - X-linked recessive inheritance