And Muscle Cramps Aneurysms With Nephropathy Hereditary Angiopathy

Also Known As:

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps; Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures; Hanac; Hanac Syndrome; Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome

Networked: 16 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscle Cramp (Cramp)
2.	Aneurysm (Aneurysms)
3.	Hereditary Nephritis (Alport Syndrome)
4.	Porencephaly
5.	Cysts

Experts

1.	Plaisier, Emmanuelle: 5 articles (04/2017 - 12/2008)
2.	Ronco, Pierre: 5 articles (04/2017 - 12/2008)
3.	Chen, Zhiyong: 3 articles (03/2017 - 10/2010)
4.	Paques, Michel: 2 articles (04/2017 - 10/2010)
5.	Migeon, Tiffany: 2 articles (03/2017 - 04/2016)
6.	Sado, Yoshikazu: 2 articles (03/2017 - 04/2016)
7.	Verpont, Marie-Christine: 2 articles (03/2017 - 04/2016)
8.	Kashtan, Clifford E: 2 articles (01/2011 - 01/2011)
9.	Segal, Yoav: 2 articles (01/2011 - 01/2011)
10.	Dubus, Elisabeth: 1 article (04/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Muscle Cramps Aneurysms With Nephropathy Hereditary Angiopathy:

1.	Retinaldehyde (Retinal)IBA 04/01/2017 - "This study provides a phenotypic analysis of a novel mouse model of HANAC syndrome focusing on the retinal aspect. " 04/01/2017 - "To examine how vascular defects can affect neuronal function, we analyzed the retinal phenotype of a HANAC mouse model. " 01/01/2016 - "[Retinal arteriolar tortuosity in a patient with HANAC syndrome (dominant hereditary angiopathy with nephropathy, aneurysms and muscle cramps)]." 11/01/2014 - "Interestingly, the COL4A1 p.Gly510Arg mutation has been previously identified in a family with HANAC (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), a multisystemic disease featuring retinal arteriolar tortuosity. " 01/01/2015 - "COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). "
2.	Collagen Type IV (Type IV Collagen)IBA 10/01/2010 - "The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell-type IV collagen interactions may underlie the systemic defects observed in this syndrome." 03/15/2010 - "Collagen type IV is the major structural component of the basement membrane and COL4A1 mutations cause adult small vessel disease, familial porencephaly and hereditary angiopathy with nephropathy aneurysm and cramps (HANAC) syndrome. " 01/01/2011 - "This chapter describes several well-characterized animal models of type IV collagen disorders (Alport syndrome, HANAC syndrome), a laminin disorder (Pierson syndrome), nail-patella syndrome and HERNS syndrome. " 05/15/2015 - "Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. "
3.	IntegrinsIBA 10/01/2010 - "All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin-binding sites. " 03/01/2017 - "Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). " 04/01/2016 - "Mutations producing HANAC syndrome localize within the integrin binding site containing CB3[IV] fragment of the COL4A1 protein. " 02/01/2011 - "The maps indicated that mutations affecting major ligand-binding sites, for example, for Von Hippel Lindau (VHL) protein in the α1 chain or integrins in the α5 chain, resulted in distinctive phenotypes (Hereditary Angiopathy, Nephropathy, Aneurysms, and muscle Cramps [HANAC] syndrome, and early-onset Alport syndrome, respectively). "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "Mutations of the COL4A1 gene, a major structural protein of vessels, may cause hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome. " 04/01/2016 - "Mutations producing HANAC syndrome localize within the integrin binding site containing CB3[IV] fragment of the COL4A1 protein. " 05/15/2015 - "Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. " 02/01/2011 - "The maps indicated that mutations affecting major ligand-binding sites, for example, for Von Hippel Lindau (VHL) protein in the α1 chain or integrins in the α5 chain, resulted in distinctive phenotypes (Hereditary Angiopathy, Nephropathy, Aneurysms, and muscle Cramps [HANAC] syndrome, and early-onset Alport syndrome, respectively). "
5.	CollagenIBA 04/01/2016 - "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. " 12/01/2008 - "[HANAC syndrome (hereditary angiopathy with nephropathy, aneurysms and muscle cramps) and mutations of the collagen 4A1 gene: a new basement membrane hereditary pathology with multisystemic expression]."
6.	Extracellular Matrix ProteinsIBA 01/01/2011 - "This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). "
7.	LigandsIBA 02/01/2011 - "The maps indicated that mutations affecting major ligand-binding sites, for example, for Von Hippel Lindau (VHL) protein in the α1 chain or integrins in the α5 chain, resulted in distinctive phenotypes (Hereditary Angiopathy, Nephropathy, Aneurysms, and muscle Cramps [HANAC] syndrome, and early-onset Alport syndrome, respectively). "
8.	Laminin (Merosin)IBA 01/01/2011 - "This chapter describes several well-characterized animal models of type IV collagen disorders (Alport syndrome, HANAC syndrome), a laminin disorder (Pierson syndrome), nail-patella syndrome and HERNS syndrome. "
9.	Creatine Kinase (Creatine Phosphokinase)IBA 03/01/2017 - "HANAC mutant animals also presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma. "
10.	CelluloseIBA 11/01/1950 - "[Technical data on the Kurschner-Hanac method of determining cellulose in flours and derivatives, modified by Bellucci]."