ORPHA:73229
HANAC syndrome
Also known as: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Publications
192
71.7th percentile
Trials
1
Interventional, condition-specific
Researchers
1,099
Distinct authors in sample
Gene link
COL4A1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012726
- MeSH:C567088
- OMIM:611773
- UMLS:C2673195
Additional Mondo synonyms (3)
HANAC · angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps · hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — COL4A1
- LiteraturePresent
192 matched papers (135 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (COL4A1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
192
192 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
192 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
135 in the last 10 years · medium confidence · 71.7th percentile (publications denominator)
Phrase hits: 192 · MeSH hits: 0
Who's working on it?
1,099
Distinct author names in 192 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Gould DB9 papers · 2021
Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA.
Papers in Europe PMC - 02Plaisier E9 papers · 2017
INSERM Unité 702, Université Pierre et Marie Curie, Paris 6, Unités Mixtes de Recherche Scientifique 702, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, France. emmanuelle.plaisier@tnn.aphp.fr
Papers in Europe PMC - 03Ronco P9 papers · 2017
Néphrologie et Dialyses, Unité INSERM UMR S 702, UPMC, Hôpital Tenon, Paris.
Papers in Europe PMC - 04Van Agtmael T9 papers · 2025
Institute of Cardiovascular and Medical Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, United Kingdom tom.vanagtmael@glasgow.ac.uk.
Papers in Europe PMC - 05Jeanne M6 papers · 2021
Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California, San Francisco School of Medicine, 94143, USA.
Papers in Europe PMC - 06Harris PC5 papers · 2023
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 07Labelle-Dumais C5 papers · 2019
Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Papers in Europe PMC - 08Alamowitch S4 papers · 2011
Tenon Hospital, Stroke Unit, Department of Neurology, Paris, France. sonia.alamowitch@tnn.aphp.fr
Papers in Europe PMC - 09Boudko SP4 papers · 2025
Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07374913·RECRUITING·COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
Conditions: COL4A1\2 · COL4A1-Related Brain Small Vessel Disease With Haemorrhage·Matched via recall expansion
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06935578·RECRUITING·RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Conditions: CADASIL · CADASIL (Diagnosis) · Moya Moya Disease · Moyamoya·Matched via recall expansion
- NCT05473637·RECRUITING·Taiwan Associated Genetic and Nongenetic Small Vessel Disease
Conditions: Cerebral Small Vessel Diseases · Cadasil · HTRA1-Related Autosomal Dominant Cerebral Angiopathy · COL4A1-Related Brain Small Vessel Disease With Haemorrhage·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Directly listed under NPRD Group 2.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"HANAC syndrome" OR "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" OR "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" OR "HANAC" OR "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"
MeSH descriptor terms unioned into the query: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"HANAC syndrome" OR "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" OR "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" OR "HANAC" OR "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" OR "COL4A1"
Recall-expansion terms: COL4A1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:43:40.601Z