ODCs

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1 OMIM reference -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

AKT3	(UniProt - OMIM)		CSF1R	(UniProt - OMIM)
PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R2	(0.52)	CSF1R

Citations in the biomedical literature:

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
	Synonym(s): - MPPH syndrome		Synonym(s): - ALSP - Autosomal dominant leukoencephalopathy with neuroaxonal spheroids - HDLS - Hereditary diffuse leukoencephalopathy with spheroids - POLD - Pigmentary orthochromatic leukodystrophy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

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

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
(no data available)