What is COL4A1 / COL4A2 syndrome?
COL4A1 / COL4A2 syndrome is a very rare genetic disorder.
Type IV alpha 1 and alpha 2 collagen (COL4A1 and COL4A2) is the main component of almost all basement membranes. For this reason, a mutation of the COL4A1 or COL4A2 gene causes a disorder that can affect any organ but typically the alteration of the gene is associated with the disease of the small cerebral vessels, a disorder transmitted as an autosomal dominant trait with variable age of onset and incomplete penetrance.
COL4A1-COL4A2 syndrome
Articles
- 2022-07 GASPARINI COL4A1/2-related disease: phenotypic characterisation and proposal for management and prevention of complications
- 2022-06 MAO Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice
- 2022-03 GUEYE Main features of COL4A1-COL4A2 related cerebral microangiopathies
- 2020-02 MANCUSO Monogenic cerebral small vessel diseases diagnosis and therapy Consensus
- 2019-05 LABELLE-DUMAIS COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
- 2019-02 VITALE Cortical malformations and COL4A1 mutation: Three new cases
- 2018-11 ZAGAGLIA Neurologic phenotypes associated with COL4A1/2 mutations
- 2018-05 HAYASHI Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
- 2017-01 TROUILLET Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome
- 2015-11 GASPARINI Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation
- 2015-09 MAO Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice
- 2012-07 TONDUTI COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
- 2011-12 JEANNE COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
- 2009-06 PLAISIER COL4A1-Related Disorders
- Orpha.net
- Rare Disease Database
- UCSF Department of Ophthalmology
- Sindrome HANAC