Disease #01517 (BSVD1;POREN1 (brain small vessel disease, type 1 (BSVD1);porencephaly, type 1 (POREN1)), OMIM:175780)

Official abbreviation BSVD1;POREN1
Name brain small vessel disease, type 1 (BSVD1);porencephaly, type 1 (POREN1)
OMIM ID 175780
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene COL4A1
Associated tissues -
Disease features -
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00080979 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - BSVD1;POREN1 Porencephaly 1 (OMIM:175780) COL4A1 COL4A1 1 1 Daniel Trujillano
00382119 236 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - BSVD1;POREN1 anterior segment developmental anomalies including glaucoma; MIM, 607595 COL4A1 COL4A1 1 1 LOVD
00391784 130P - - M no Spain - - - - - BSVD1;POREN1, HANAC - - COL4A1 1 1 Alejandro Brea-Fernández
00392293 188382 - - M ? ? (unknown) - - 0 - - BSVD1;POREN1 Abnormal vascular morphology, Abnormality of the vasculature COL4A1 COL4A1 1 1 Andreas Laner
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