ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
18 signs/symptoms

Very long chain acyl-CoA dehydrogenase deficiency

Hereditary hyperekplexia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACADVL	(0.63)	GPHN

Citations in the biomedical literature:

Very long chain acyl-CoA dehydrogenase deficiency		Hereditary hyperekplexia
	Synonym(s): - VLCAD deficiency - VLCADD		Synonym(s): - Congenital stiff man syndrome - Familial startle disease - Hereditary hyperexplexia - Hyperekplexia - Kok disease - Stiff baby syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: before age 5 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: 3 OMIM references - No MeSH references

Hereditary hyperekplexia
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Autosomal recessive inheritance - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Myoclonus / fasciculations - Restricted joint mobility / joint stiffness / ankylosis Frequent - Abnormal gait - Death in infancy - Inguinal / inguinoscrotal / crural hernia - Sleep and vigilance disorders - Umbilical hernia Occasional - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intellectual deficit / mental / psychomotor retardation / learning disability - Joint dislocation / subluxation - Seizures / epilepsy / absences / spasms / status epilepticus
Very long chain acyl-CoA dehydrogenase deficiency
(no data available)