Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

General Information (adopted from Orphanet):

Synonyms, Signs: HANAC
HANAC syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Number of Symptoms 29
OrphanetNr: 73229
OMIM Id: 611773
ICD-10: H35.0
R31
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basement membrane disease
 -Rare genetic disease
 -Rare renal disease
Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000790) Hematuria 106 / 7739
2
 (HPO:0002907) Microscopic hematuria 27 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0000083) Renal insufficiency 232 / 7739
5
 (HPO:0012213) Decreased glomerular filtration rate 21 / 7739
6
 (HPO:0000107) Renal cyst 126 / 7739
7
 (HPO:0000573) Retinal hemorrhage 13 / 7739
8
 (HPO:0001136) Retinal arteriolar tortuosity 5 / 7739
9
 (HPO:0001063) Acrocyanosis 56 / 7739
10
 (HPO:0005115) Supraventricular arrhythmia 13 / 7739
11
 (HPO:0002140) Ischemic stroke 70 / 7739
12
 (HPO:0004944) Cerebral aneurysm 12 / 7739
13
 (HPO:0001297) Stroke rare [HPO:skoehler] 44 / 7739
14
 (HPO:0003394) Muscle cramps 106 / 7739
15
 (OMIM) Basement membrane abnormally spread in vascular smooth muscle cells 1 / 7739
16
 (OMIM) Creatine kinase, serum, elevated 1 / 7739
17
 (OMIM) Dermal arteriole dissociation in vascular smooth muscle cells 1 / 7739
18
 (OMIM) Aneurysms of right internal carotid artery, intracranial segment 1 / 7739
19
 (OMIM) Leukoencephalopathy, periventricular 1 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (OMIM) Aneurysm of right middle cerebral artery, horizontal segment 1 / 7739
22
 (OMIM) Microvascular spaces, dilated 1 / 7739
23
 (OMIM) Basement membrane alterations in Bowman capsule, tubules, and interstitial capillaries, with irregular thickening, splitting into multiple layers, and electron-lucent areas 1 / 7739
24
 (OMIM) Renal failure, mild 1 / 7739
25
 (HPO:0002352) Leukoencephalopathy 32 / 7739
26
 (OMIM) Capillary tortuosity in nail beds 1 / 7739
27
 (OMIM) Glomerular basement membrane normal 1 / 7739
28
 (OMIM) Basement membrane duplications at dermoepidermal junction 1 / 7739
29
 (OMIM) Hematuria, gross (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Plaisier et al. (2005) described a 4-generation French Caucasian family presenting with autosomal dominant hematuria associated with extrarenal manifestations. All affected patients presented with association of renal involvement, retinal arterial tortuosities, and muscular contractures. Retinal arterial tortuosities were ...
Molecular genetics OMIM Plaisier et al. (2007) performed linkage analysis in the original family described by them with HANAC, which showed that all affected subjects shared a common haplotype at the COL4A1-COL4A2 locus (120130, 120090). Sequence analysis of COL4A1 cDNA from ...