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ORPHA:611207

Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome

low confidenceDisorder

Also known as: SHILCA syndrome

Publications

1,617

Trials

0

Interventional, condition-specific

Researchers

70

Distinct authors in sample

Gene link

NMNAT1

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary bone characterized by severe spondyloepiphyseal , sensorineural hearing loss, and Leber amaurosis. Brain anomalies (including delayed myelinization, white matter hyperintensity, hypomyelinating leukoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), , , facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

SHILCA

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

    Limited — NMNAT1

  2. LiteraturePresent

    1,617 matched papers (1,228 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Delayed CNS myelination; Ataxia; Coarse facial features) 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?

Possibly — only limited evidence so far for NMNAT1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0031007

  • Delayed CNS myelination
  • Ataxia
  • Coarse facial features
  • Brain atrophy
  • Widened cerebellar subarachnoid space

Showing 5 of 44 — 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?

1,617

1,617 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.

1,617 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).

1,228 in the last 10 years · low confidence

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

70

Distinct author names in 6 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
    Superti-Furga A2 papers · 2023

    Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  2. 02
    Abad-Morales V1 paper · 2021

    Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.

    Papers in Europe PMC
  3. 03
    Ali H1 paper · 2023

    INSERM, US14-Orphanet, Paris, France.

    Papers in Europe PMC
  4. 04
    Atik MM1 paper · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  5. 05
    Ayuso C1 paper · 2020

    Department of Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.

    Papers in Europe PMC
  6. 06
    Banfi S1 paper · 2020

    Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.

    Papers in Europe PMC
  7. 07
    Bedoni N1 paper · 2020

    Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland.

    Papers in Europe PMC
  8. 08
    Bertola DR1 paper · 2023

    Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  9. 09
    Bhattacharjee S1 paper · 2022

    National Institute of Biomedical Genomics, Kalyani, India.

    Papers in Europe PMC
  10. 10
    Brown EE1 paper · 2023

    Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Harvard Medical School, Boston, MA 02114, USA.

    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 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis 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.

("Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome" OR "SHILCA syndrome" OR "SHILCA") OR ("NMNAT1" OR "NMNAT1 syndrome" OR "NMNAT1-related")

Run this search on Europe PMC

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

"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome" OR "SHILCA syndrome" OR "SHILCA"

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
  • Publication count (1617) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T19:02:32.639Z