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Article

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.

Journal of the American Society of Nephrology : JASN - 1 Apr 2016

Chen Zhiyong, Migeon Tiffany, Verpont Marie-Christine, Zaidan Mohamad, Sado Yoshikazu, Kerjaschki Dontscho, Ronco Pierre, Plaisier Emmanuelle

Abstract excerpt

Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes. Patients present with cerebral small vessel disease, retinal tortuosity, muscle cramps, and kidney disease consisting of multiple renal cysts, chronic kidney failure, and sometimes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26260163
DOI: 10.1681/ASN.2014121217
PMCID: PMC4814176

Genes

DDR1
ILK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.PMID 26260163Read ↗

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COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.Semantic proximity Read ↗

[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].Semantic proximity Read ↗

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.Semantic proximity Read ↗

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.Semantic proximity Read ↗

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.Semantic proximity Read ↗

ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.Semantic proximity Read ↗

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.Semantic proximity Read ↗

Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome.Semantic proximity Read ↗

Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.Semantic proximity Read ↗

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.Semantic proximity Read ↗

Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.Semantic proximity Read ↗

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