ODCs

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1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Hereditary cerebral hemorrhage with amyloidosis, Iowa type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HMGCS2	(0.56)	APP

Citations in the biomedical literature:

3-hydroxy-3-methylglutaryl-CoA synthase deficiency		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	Synonym(s): - HMG-CoA synthase deficiency		Synonym(s): - HCHWA, Iowa type

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

3-hydroxy-3-methylglutaryl-CoA synthase deficiency		Hereditary cerebral hemorrhage with amyloidosis, Iowa type
	Very frequent - Hypoglycemia - Metabolic anomalies - Organic acid metabolism anomalies - Seizures / epilepsy / absences / spasms / status epilepticus - Storage liver disease		Very frequent - Abnormal gait - Autosomal dominant inheritance - Cerebral vascular anomalies - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Intracranial / cerebral / meningeal hemorrhage - Myoclonus / fasciculations - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Transient cerebral ischemia / stroke - Troubles of memory / amnesia / hypermnesia