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ORPHA:457205

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

high confidenceDisorder

Also known as: ANOAC · Axonal neuropathy-optic atrophy-cognitive deficit syndrome

Publications

12

28.2th percentile

Trials

0

Interventional, condition-specific

Researchers

76

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by axonal sensorimotor , optic atrophy, cognitive deficit, bulbar dysfunction, , and early and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.

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 (1)

axonal neuropathy-optic atrophy-cognitive deficit 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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    12 matched papers (10 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Infantile onset; Cryptorchidism; Bilateral tonic-clonic seizure) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0018705

  • Infantile onset
  • Cryptorchidism
  • Bilateral tonic-clonic seizure
  • EEG abnormality
  • Functional motor deficit

Showing 5 of 27 — 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?

12

12 papers have ever been indexed 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=3967) is 59.

12 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).

10 in the last 10 years · high confidence · 28.2th percentile (publications denominator)

Phrase hits: 12 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

76

Distinct author names in 12 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
    Li C2 papers · 2026

    Department of Hemorrhoid Fistula, Kunming Municipal Hospital of Traditional Chinese Medicine, No. 2628 Xiangyuan Street, Chenggong District, Kunming, 650599, Yunnan, China.

    Papers in Europe PMC
  2. 02
    ALGhasab NS1 paper · 2022

    From the Department of Internal Medicine (ALGhasab), Medical Collage, Ha'il University; from the Department of Medicine (Alharbi), College of Medicine, University of Ha'il, Ha'il; from the College of Medicine (Altamimi), King Saud University, Riyadh; from the Department of Surgery (ALMesned), Medical College, Qassim University, Buraydah, Kingdom of Saudi Arabia; and from the Department of Medicine (ALGhasab, Khetan), McMaster University, Canada.

    Papers in Europe PMC
  3. 03
    Alharbi MS1 paper · 2022

    From the Department of Internal Medicine (ALGhasab), Medical Collage, Ha'il University; from the Department of Medicine (Alharbi), College of Medicine, University of Ha'il, Ha'il; from the College of Medicine (Altamimi), King Saud University, Riyadh; from the Department of Surgery (ALMesned), Medical College, Qassim University, Buraydah, Kingdom of Saudi Arabia; and from the Department of Medicine (ALGhasab, Khetan), McMaster University, Canada.

    Papers in Europe PMC
  4. 04
    ALMesned SS1 paper · 2022

    From the Department of Internal Medicine (ALGhasab), Medical Collage, Ha'il University; from the Department of Medicine (Alharbi), College of Medicine, University of Ha'il, Ha'il; from the College of Medicine (Altamimi), King Saud University, Riyadh; from the Department of Surgery (ALMesned), Medical College, Qassim University, Buraydah, Kingdom of Saudi Arabia; and from the Department of Medicine (ALGhasab, Khetan), McMaster University, Canada.

    Papers in Europe PMC
  5. 05
    Altamimi LA1 paper · 2022

    From the Department of Internal Medicine (ALGhasab), Medical Collage, Ha'il University; from the Department of Medicine (Alharbi), College of Medicine, University of Ha'il, Ha'il; from the College of Medicine (Altamimi), King Saud University, Riyadh; from the Department of Surgery (ALMesned), Medical College, Qassim University, Buraydah, Kingdom of Saudi Arabia; and from the Department of Medicine (ALGhasab, Khetan), McMaster University, Canada.

    Papers in Europe PMC
  6. 06
    Annunziata C1 paper · 2016

    Molecular Biology and Viral Oncology Division, Istituto Nazionale Tumori "Fond. Pascale" - IRCCS, 80131 Napoli, Italy.

    Papers in Europe PMC
  7. 07
    Bhagwat G1 paper · 2021

    Healing Hands & Herbs (R&D Center), Pune, Maharashtra 411002, India.

    Papers in Europe PMC
  8. 08
    Boehme P1 paper · 2020

    Didactics and Educational Research in Health Science, Faculty of Health, Witten/Herdecke University, Witten, Germany.

    Papers in Europe PMC
  9. 09
    Botti G1 paper · 2016

    Department of Pathology, Istituto Nazionale Tumori "Fond. Pascale" - IRCCS, Napoli, 80131 Italy.

    Papers in Europe PMC
  10. 10
    Boyd MA1 paper · 2026

    School of Medicine, College of Health, Adelaide University, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia; Lyell McEwin Hospital, Northern Adelaide Local Health Network, Adelaide, South Australia, Australia.

    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.

high 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 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" OR "ANOAC" OR "Axonal neuropathy-optic atrophy-cognitive deficit syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" OR "ANOAC" OR "Axonal neuropathy-optic atrophy-cognitive deficit syndrome"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

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

Ingested 2026-07-27T16:48:34.179Z