ORPHA:171848
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Also known as: PHARC syndrome · Peripheral neuropathy, Fiskerstrand type · Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
Publications
944
Trials
0
Interventional, condition-specific
Researchers
478
Distinct authors in sample
Gene link
ABHD12
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurologic syndrome with peripheral characterized by polyneuropathy, hearing loss, , retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly and often demyelinating sensorimotor where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is , usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. and mild is reported in few patients.
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:0012984
- MeSH:C567203
- OMIM:612674
- UMLS:C2675204
Additional Mondo synonyms (1)
peripheral neuropathy, Fiskerstrand type
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — ABHD12
- LiteraturePresent
944 matched papers (701 in last 10 years) Source
- Phenotype characterisedPresent
22 HPO annotations (e.g. Dysmetria; Distal amyotrophy; Nystagmus) Source
- Animal modelPresent
3 genotype models (Danio rerio, Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (ABHD12).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
22
Associated phenotypes · MONDO:0012984
- Dysmetria
- Distal amyotrophy
- Nystagmus
- Sensorimotor neuropathy
- Rod-cone dystrophy
Showing 5 of 22 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- WT + MO3-abhd12·ZFIN:ZDB-FISH-170410-2·Danio rerio
- WT + MO2-abhd12·ZFIN:ZDB-FISH-170410-3·Danio rerio
- Abhd12tm1Crv/Abhd12tm1Crv [background:] involves: C57BL/6·MGI:5487655·Mus musculus
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?
944
944 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
944 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).
701 in the last 10 years · low confidence
Phrase hits: 67 · MeSH hits: 4
Who's working on it?
478
Distinct author names in 71 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.
- 01Bergen AA3 papers · 2025
Department of Clinical Genetics, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Papers in Europe PMC - 02Boon CJF3 papers · 2025
Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Papers in Europe PMC - 03
- 04Hoyng CB3 papers · 2025
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 05Nguyen XT3 papers · 2025
Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Papers in Europe PMC - 06Almushattat H2 papers · 2025
Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands.
Papers in Europe PMC - 07Barbosa R2 papers · 2025
Department of Neurology, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental Lisbon Portugal.
Papers in Europe PMC - 08Callaerts P2 papers · 2025
Laboratory for Behavioral and Developmental Genetics, Department of Human Genetics, KU Leuven, Louvain, Belgium.
Papers in Europe PMC - 09Carvalho AL2 papers · 2025
Clinical Academic Centre of Coimbra (CACC), Coimbra, Portugal.
Papers in Europe PMC - 10Harutyunyan L2 papers · 2025
Laboratory for Behavioral and Developmental Genetics, Department of Human Genetics, KU Leuven, Louvain, Belgium.
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 27 · after dedupe 27 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 27 · 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).
Uncertain / not reviewed (27)
- ctis·2024-517888-23-00·Authorised·Model-informed precision dosing for linezolid: a randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522697-37-00·Authorised, recruiting·Phase 1/2 Investigation Of Novel Experimental Regimen in Amyotrophic Lateral Sclerosis (PIONEER-ALS): An Open-Label, Uncontrolled, Multicenter Study to Assess the Safety and Tolerability of Two Doses of VTx-002.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524258-32-00·Authorised, ongoing·A study of the safety, tolerability, pharmacokinetics and preliminary efficacy of TNV108 in healthy adults and patients with diabetic peripheral neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-523597-17-00·Authorised·A randomized, double-blind, placebo-controlled study to assess the effects of high concentration capsaicin patch (Qutenza) on neuropathic symptoms, nerve fibers, and microcirculation in painful diabetic peripheral neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521606-18-00·Authorised, recruiting·A Phase 2, Open-Label, Randomized, Master Protocol Dose Optimization Study to Evaluate Safety and Efficacy of Multiple Treatment Combinations with Mirvetuximab Soravtansine in Subjects with Ovarian Cancer (FLORENZA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517184-23-00·Authorised, ongoing·A randomized Phase 2, open-label study of mirvetuximab soravtansine in patients with platinum-resistant advanced high-grade epithelial ovarian, primary peritoneal, or fallopian tube cancers with high folate receptor-alpha expression testing 2 schedules of administration for dose optimization, with a separate cohort to determine starting dose in patients with moderate hepatic impairment
skipped — LLM skipped (--skip-llm)
- ctis·2025-521674-33-00·Authorised, ongoing·A phase 2a Safety and Efficacy study of TAR-0520 gel in prevention of taxanes-induced peripheral neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517766-41-00·Authorised, ongoing·Pancreatic cancer first-line NALIRIFOX optimization with 5-FU maintenance and role of antibiotics and microbiota exploration in second-line treatment – A non-comparative, randomized phase II PANORAMIX GERCOR G-116 PRODIGE 105 study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514689-38-01·Authorised, ongoing·A Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging, Parallel-design Study of the Efficacy and Safety of Oral VX-993 in Subjects With Painful Diabetic Peripheral Neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-516936-93-02·Authorised, ongoing·Soothing Pain After ChEmotherapy: Psilocybin As INtervention (SPACE-PAIN) — a randomized controlled pilot trial
skipped — LLM skipped (--skip-llm)
- ctis·2023-509662-38-00·Expired·Efficacy and safety of co-administered cagrilintide and semaglutide (CagriSema) once weekly versus placebo in participants with type 2 diabetes and painful diabetic peripheral neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517196-20-00·Authorised, ongoing·Effectiveness and cost-effectiveness of ozone treatment in patients with paresthesia (numbness, tingling) secondary to chemotherapy-induced peripheral neuropathy. Randomized, triple-blind clinical trial (OzoParQT).
skipped — LLM skipped (--skip-llm)
- ctis·2024-516904-40-00·Cancelled·A PHASE III, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL COMPARING THE EFFICACY AND SAFETY OF POLATUZUMAB VEDOTIN IN COMBINATION WITH RITUXIMAB AND CHP (R-CHP) VERSUS RITUXIMAB AND CHOP (R-CHOP) IN PREVIOUSLY UNTREATED PATIENTS WITH DIFFUSE LARGE B-CELL LYMPHOMA
skipped — LLM skipped (--skip-llm)
- ctis·2024-516149-38-00·Expired·A Randomized Phase IIb Study, Evaluating Efficacy of Salvage Therapy with Brentuximab Vedotin-ESHAP vs ESHAP in Patients with Relapsed / Refractory Classical Hodgkin’s Lymphoma, Followed by Brentuximab Vedotin Consolidation (instead of Autologous Hematopoietic Stem Cell Transplantation) in Those who Attained a Metabolic Complete Remission after Salvage Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513595-17-00·Cancelled·Efficacy and tolerability of ODM-111 in chronic pain due to diabetic peripheral neuropathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514560-10-00·Authorised, ongoing·Systemic antitumor treatment with or without pressurized intraperitoneal aerosol chemotherapy (PIPAC) for colon peritoneal metastases – a multicentre phase II randomized trial (PIPOX02)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517309-95-00·Cancelled·Prospective, randomised, placebo-controlled study of polyvalent intravenous immunoglobulins for the treatment of primary Sjögren's syndrome associated painful sensory neuropathies
skipped — LLM skipped (--skip-llm)
- ctis·2024-518021-16-00·Authorised, ongoing·Effectiveness and cost-effectiveness of Ozone therapy in patients with pain secondary to chemotherapy-induced peripheral neuropathy. Randomized, triple-blind clinical trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516578-31-00·Cancelled·Efficacy of nasal oxygen therapy on the reduction of postoperative complications in ankle trauma surgery in at-risk patients: a randomized pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2023-508932-68-00·Cancelled·A Double-blind, Randomized, Placebo-controlled, 4-arm Parallel-group, Multiple-Dose Study to Assess Efficacy and Safety of Medical Cannabis Aerosol via the Fixed-dose Syqe Inhaler as an Add-on Treatment of Diabetic Peripheral Neuropathic Pain
skipped — LLM skipped (--skip-llm)
- ctis·2024-512537-33-00·Cancelled·A Phase III, Open-Label, Multicenter, Randomized Study Evaluating the Safety and Efficacy of Polatuzumab Vedotin in Combination with Rituximab Plus Gemcitabine Plus Oxaliplatin (R- GEMOX) Versus R- GEMOX Alone in Patients with Relapsed/Refractory Diffuse Large B-Cell Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-505794-32-04·Authorised, ongoing·Multifactorial intervention to reduce cardiovascular disease in type 1 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2023-506127-29-00·Expired·J2P-MC-LXBD: A Phase 2, Randomized, Double-Blind, Placebo Controlled, Dose-Ranging Study to Evaluate LY3556050 in Adult Participants With Diabetic Peripheral Neuropathic Pain
skipped — LLM skipped (--skip-llm)
- ctis·2023-506415-18-00·Expired·An Open-Label Study of Brentuximab Vedotin+Adriamycin, Vinblastine, and Dacarbazine in Pediatric Patients With Advanced Stage Newly Diagnosed Hodgkin Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-504618-31-00·Authorised, ongoing·Capsaicin 179 mg patch versus oral Duloxetine in patients with chemotherapy-induced peripheral neuropathy: a phase 3 randomized multicentric open-label study (CAPNEUCHIM)
skipped — LLM skipped (--skip-llm)
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 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
("Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" OR "PHARC syndrome" OR "Peripheral neuropathy, Fiskerstrand type" OR "Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome") OR (MESH:"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract") OR ("ABHD12" OR "ABHD12 syndrome" OR "ABHD12-related")MeSH descriptor terms unioned into the query: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" OR "PHARC syndrome" OR "Peripheral neuropathy, Fiskerstrand type" OR "Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome" OR "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (944) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:43:50.298Z