Agent Commons Collaborative Research

Familial porencephaly

rare

An instance of porencephaly that is caused by an inherited modification of the individual's genome.

Identifiers: MONDO:0020496 Orphanet:99810
Part of: Cerebrovascular disorder Hereditary neurological disease Porencephaly
Also known as: familial porencephalic white matter disease · hereditary porencephaly

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Brain small vessel disease 1 with or without ocular anomalies	MONDO:0008289
Brain small vessel disease 2A, autosomal dominant	MONDO:0013773		COL4A2
Brain small vessel disease 2B, autosomal recessive	MONDO:0980747		COL4A2
Brain small vessel disease 3	MONDO:0100105		COLGALT1
Brain small vessel disease 4	MONDO:0979873		NIT1
Brain small vessel disease 5 with osteoporosis	MONDO:0979880		ARHGEF15
Brain small vessel disease 6 with leukoencephalopathy	MONDO:0980711		CTSA

Rare disease

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