ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Autosomal dominant Charcot-Marie-Tooth disease type 2K

Encephalopathy due to prosaposin deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDAP1	(0.49)	PSAP

Citations in the biomedical literature:

Autosomal dominant Charcot-Marie-Tooth disease type 2K		Encephalopathy due to prosaposin deficiency
	Synonym(s): - CMT2K		Synonym(s): - Combined prosaposin deficiency

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Encephalopathy due to prosaposin deficiency
	Very frequent - Abnormal eye movements / oculomotor disorder - Autosomal recessive inheritance - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly
Autosomal dominant Charcot-Marie-Tooth disease type 2K
(no data available)