Porencephaly
What's New
Last Posted: Mar 03, 2023
- COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Kitzler Thomas M, et al. Human genetics 2019 0 (10) 1105-1115 - Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Maurice P, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 0 (5) 783-789 - Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai Toshiyuki et al. Journal of medical genetics 2020 Jul - Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Yuriko, et al. Annals of neurology 2013 1 (1) 48-57 - COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng Yi-Chinn, et al. Annals of neurology 2012 4 (4) 470-7 - Coloboma porencephaly hydronephrosis
From NCATS Genetic and Rare Diseases Information Center - Familial porencephaly
From NCATS Genetic and Rare Diseases Information Center - Porencephaly
From NCATS Genetic and Rare Diseases Information Center - Porencephaly cerebellar hypoplasia internal malformations
From NCATS Genetic and Rare Diseases Information Center - The factor V G1691A mutation is a risk for porencephaly: A case-control study.
Debus Otfried M, et al. Annals of neurology 2004 8 (2) 287-90
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 22, 2023
- Content source: