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ORPHA:73229

HANAC syndrome

low confidenceDisorder

Also known as: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

9,208

Trials

0

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — COL4A1

  2. LiteraturePresent

    9,208 matched papers (7,457 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Retinal vascular tortuosity; Muscle spasm; Multiple renal cysts) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

18

Associated phenotypes · MONDO:0012726

  • Retinal vascular tortuosity
  • Muscle spasm
  • Multiple renal cysts
  • Hematuria
  • Renal insufficiency

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,208

9,208 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,208 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

7,457 in the last 10 years · low confidence

Phrase hits: 192 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,099

Distinct author names in 192 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Gould DB9 papers · 2021

    Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA.

    Papers in Europe PMC
  2. 02
    Plaisier 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
  3. 03
    Ronco P9 papers · 2017

    Néphrologie et Dialyses, Unité INSERM UMR S 702, UPMC, Hôpital Tenon, Paris.

    Papers in Europe PMC
  4. 04
    Van 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
  5. 05
    Jeanne 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
  6. 06
    Harris PC5 papers · 2023

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  7. 07
    Labelle-Dumais C5 papers · 2019

    Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.

    Papers in Europe PMC
  8. 08
    Alamowitch S4 papers · 2011

    Tenon Hospital, Stroke Unit, Department of Neurology, Paris, France. sonia.alamowitch@tnn.aphp.fr

    Papers in Europe PMC
  9. 09
    Boudko SP4 papers · 2025

    Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.

    Papers in Europe PMC
  10. 10
    Chen Z4 papers · 2017

    Mixed Research Unit S1155, INSERM, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for HANAC syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly 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") OR (MESH:"Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps") OR ("COL4A1" OR "COL4A1 syndrome" OR "COL4A1-related" OR "HANAC-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

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
  • Publication count (9208) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:43:40.601Z