COL4A1/2-related familial vascular leukoencephalopathy

[galyea123]

Hi! This condition is linked to OMIM 175780 (Brain small vessel disease with or without ocular anomalies). You list the following as synonyms:

• COL4A1-related brain small vessel disease with hemorrhage
• COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

I see that in the Orphanet classification "COL4A1/2-related familial vascular leukoencephalopathy" is under "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency" ORPHA:477765 which also includes:

• Familial isolated retinal arteriolar tortuosity ORPHA:75326
• Familial porencephaly ORPHA:99810
• Familial schizencephaly ORPHA:481986
• HANAC syndrome ORPHA:73229

The GR entitled COL4A1-Related Disorders includes:

• Porencephaly type 1
• Brain small-vessel disease with or without ocular anomalies
• HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome
• Tortuosity of retinal arteries
• Nonsyndromic autosomal dominant congenital cataract

In our NORD report, COL4A1/A2-Related Disorders, authored by Dr. Gould we include the following subtypes:

• HANAC: hereditary angiopathy, nephropathy and cramps syndrome ([OMIM #611773]
• POREN1: autosomal dominant type 1 porencephaly; porencephaly with infantile hemiplegia ([OMIM #175780]
• RATOR: retinal arterial tortuosity ([OMIM #180000]
• BSVD: brain small vessel disease with or without ocular anomalies ([OMIM # 175780])
• ICH: susceptibility to intracerebral hemorrhage ([OMIM #614519] - the only difference with Orphanet, but it is a susceptibility only and not a disease per se.
• schizencephaly: ([OMIM #269160]

I would like to suggest adding "Brain small vessel disease with or without ocular anomalies" as a synonym of "COL4A1/2-related familial vascular leukoencephalopathy" and adding "COL4A1/A2-Related Disorders" as a synonym of the group "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency" as this is now recognized spectrum of diseases that includes all these phenotypes.

Thank you, Gioconda Alyea

[sagehrke]

Dear @galyea123 Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

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