Search for a gene
COL4A1 - collagen type IV alpha 1 chain
Diseases list
- Disease-causing germline mutation(s) in COL4A1-related familial vascular leukoencephalopathy
ORPHA:36383 
- Disease-causing germline mutation(s) in Familial porencephaly
ORPHA:99810 - Disease-causing germline mutation(s) in Familial schizencephaly
ORPHA:481986 - Disease-causing germline mutation(s) in HANAC syndrome
ORPHA:73229 - Disease-causing germline mutation(s) in Pontine autosomal dominant microangiopathy with leukoencephalopathy
ORPHA:477749 - Disease-causing germline mutation(s) in Retinal arterial tortuosity
ORPHA:75326 - Disease-causing germline mutation(s) in Walker-Warburg syndrome
ORPHA:899
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.