HANAC syndrome

A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 25873210
 Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.
J Neurol Sci. 2015;352(1-2):99-104.
Nephropathy
CAMP COL4A1
c|SUB|G|1249|C c|SUB|G|2662|C;RS#:797045034 p|SUB|G|417|R p|SUB|G|888|R;RS#:797045034
Adult Brain Collagen Type IV Family Females Homo sapiens Italy Leukoencephalopathy Magnetic Resonance Imaging Male Missense Mutation Motor Disorders Porencephaly Pregnancy Retinal Hemorrhage West Syndrome
1
(4.0%)		 22522439
(3335762)
 COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.
Ann Neurol. 2012;71(4):470-7.
Nephropathy
COL4A1
p|SUB|P|352|L;RS#:200786329 p|SUB|R|538|G;RS#:397514624 rs200786329 rs397514624 rs672601346
Amino Acid Sequence Cerebral Hemorrhage Cerebrovascular Disorders Collagen Type IV DNA Mutational Analysis Females Genetic Predisposition to Disease Homo sapiens Male Molecular Sequence Data Mutation Western Blotting
        

Phenotype(s) retrieved from Orphanet

    Total: 5

HPO ID Term Frequency
HP:0000083 Renal insufficiency Very frequent (99-80%)
HP:0003394 Muscle spasm Very frequent (99-80%)
HP:0005562 Multiple renal cysts Very frequent (99-80%)
HP:0012841 Retinal vascular tortuosity Very frequent (99-80%)
HP:0000790 Hematuria Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000112 Nephropathy 2
HP:0001297 Stroke 1
HP:0002352 Leukoencephalopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL4A1 collagen type IV alpha 1 chain 1282