ORPHA:73229
HANAC syndrome
Synonyms: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HANAC syndrome | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome |
| fr | Syndrome HANAC | Syndrome autosomique dominant d'hématurie-tortuosités rétiniennes-crampes musculaires · Syndrome héréditaire d'angiopathie-néphropathie-anévrismes-crampes musculaires |
| de | HANAC-Syndrom | Autosomal-dominante familiäre Hämaturie-gewundene Netzhautarteriolen-Kontrakturen-Syndrom · Hereditäres Angiopathie-Nephropathie-Aneurysmen-Muskelkrampf-Syndrom |
| es | Síndrome HANAC | Síndrome de hematuria familiar autosómica dominante-tortuosidad arteriolar retiniana-contracturas · Síndrome de hereditario de angiopatía-nefropatía-aneurismas-calambres musculares |
| it | Sindrome HANAC | Ematuria familiare autosomica dominante - tortuosità delle arterie retiniche - contratture · Sindrome angiopatia ereditaria-nefropatia-aneurismi-crampi muscolari |
| nl | HANAC-syndroom | Autosomaal dominante familiale hematurie - retinale arteriële tortuositeit - contracturen-syndroom · Erfelijk angiopathie - nefropathie - aneurysmata - spierkrampen-syndroom |
| pt | Síndrome HANAC | Síndrome de angiopatia hereditária-nefropatia-aneurismas-cãimbras · Síndrome de hematúria familiar autossómica dominante-tortuosidade arteriolar da retina-contraturas |
| pl | Autosomalna dominująca hematuria rodzinna - krętość tętnic siatkówki - przykurcze | Zespół dziedziczna angiopatia-nefropatia-tętniaki-skurcze mięśni · Zespół HANAC |
| cs | Syndrom zahrnující autozomálně dědičnou familiární hematurii, retinální arteriální tortuozitu a kontraktury | HANAC syndrom · Syndrom zahrnující hereditární angiopatii, nefropatii, aneuryzmata a svalové křeče |
| uk | Синдром HANAC | Аутосомно-домінантний сімейний синдром гематурії - звивистості артеріол сітківки - контрактури сітківки · Синдром спадкової ангіопатії-нефропатії-аневризми- мязових спазмів |
| zh | HANAC综合征 | 常染色体显性遗传性血尿-视网膜动脉迂曲-挛缩综合征 |
| tr | HANAC sendromu | Kalıtsal anjiyopati-nefropati-anevrizmalar-kas krampları sendromu · Otozomal dominant ailesel hematüri-retinal arteriolar tortuozite-kontraktür sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611773 | E | validated | |
| ICD-10 | I99 | NTBT | attributed | validated |
| ICD-11 | GB4Y | NTBT | index | validated |
| MONDO | 0012726 | E | validated | |
| MeSH | C567088 | E | validated | |
| UMLS | C2673195 | E | validated | |
| GARD | 10889 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:477765COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
rare genetic diseases; rare neurological diseases - ORPHA:544590Collagen-related glomerular basement membrane disease
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | 18160688[PMID]_20301768[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 20818663[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20818663[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2026-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003394 | Muscle spasm | |
| HP:0000083 | Renal insufficiency | |
| HP:0012841 | Retinal vascular tortuosity | |
| Frequent (79-30%) | ||
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000631 | Retinal arterial tortuosity | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0000518 | Cataract | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0012622 | Chronic kidney disease | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0000790 | Hematuria | |
| HP:0032325 | Lacunar stroke | |
| HP:0007700 | Ocular anterior segment dysgenesis | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0000573 | Retinal hemorrhage | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26260163[PMID]_31453918[PMID]_36372235[PMID]_20301768[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73229
- This record as JSON: /data/d/73229.json