ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type

Glycogen storage disease due to LAMP-2 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	THOC6	(0.49)	LAMP2

Citations in the biomedical literature:

Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type		Glycogen storage disease due to LAMP-2 deficiency
	Synonym(s): (no synonyms)		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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		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 recessive		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

Glycogen storage disease due to LAMP-2 deficiency
	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
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
(no data available)