Structured Clinical Data for Rare Diseases

Open datasets and patient trajectories extracted from thousands of case reports — browse, analyze, and validate.

Core Advancement Pillars

From Case Reports to Clinical Insights

Case Report Datasets

Open, structured datasets extracted from published case reports across rare diseases — free to browse, download, and cite.

Patient Trajectories

Temporal progression models, phenotype clusters, and genotype-outcome maps that reveal how rare diseases unfold over time.

03Coming Q4 2026

AI Diagnostic Benchmarks

Validated synthetic cohorts and challenge sets for testing and benchmarking AI diagnostic tools against real-world clinical patterns.

Case Report Datasets

We extract structured patient-level data from thousands of published case reports, validate each record through automated and manual QA pipelines, and make the resulting datasets freely available on the Silene platform. Browse patients, filter by symptoms, genetics, and demographics, explore disease-level analytics, or download full CSV datasets for your own research.

Explore Data

Patient Trajectories

Temporal progression models, phenotype clusters, and genotype-outcome maps that reveal how rare diseases unfold over time.

03Coming Q4 2026

AI Diagnostic Benchmarks

Validated synthetic cohorts and challenge sets for testing and benchmarking AI diagnostic tools against real-world clinical patterns.

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Silene SystemsClinical Workbench for Rare Diseases

Fabry Disease

GLA geneX-linkedLysosomal storage disorder

View All Patients

Total Patients

Publications

Avg Confidence

87%

Phenotypes

Phenotype Distribution

Classic: 28Late-onset: 14Cardiac variant: 5

Symptom Prevalence (Top 10)

Acroparesthesia

78%

Left ventricular hypertrophy

64%

Proteinuria

62%

Angiokeratomas

55%

Cornea verticillata

51%

Hypohidrosis

49%

GI symptoms

45%

Hearing loss

38%

Fatigue

36%

Stroke or TIA

21%

Sex Distribution

Male: 28 (60%)

Female: 19 (40%)

Age at Diagnosis

0–10

11–20

21–30

31–40

41–50

51+

Symptom Heatmap

Present Absent Unknown

Acroparesthesia

Angiokeratomas

Cornea verticillata

Hypohidrosis

GI symptoms

Proteinuria

LVH

Stroke/TIA

Hearing loss

Fatigue

Renal failure

Neuropathy

Cardiomyopathy

Tinnitus

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Silene AI

>Show me symptoms of Patient 1 from the Fabry Disease cohort

Patient 1 presents with the classic Fabry phenotype and the following symptoms:

Present:

Acroparesthesia (onset age 8)
Angiokeratomas (lower trunk, periumbilical)
Cornea verticillata (bilateral)
Hypohidrosis
GI symptoms
Proteinuria (1.8 g/day)
Left ventricular hypertrophy (LV mass 134 g/m²)
Fatigue

Absent:

Stroke or TIA
Hearing loss

The patient has a diagnostic delay of 20 years and carries the pathogenic variant c.644A>G (p.Asn215Ser) with markedly reduced α-Gal A activity (0.8 nmol/h/mL).

I've highlighted the relevant paragraphs in the source publication.

>What is the most common presenting symptom in this cohort?

Based on the analysis of 47 patients in the Fabry disease cohort:

Symptom	Prevalence
Acroparesthesia	78%
LVH	64%
Proteinuria	62%
Angiokeratomas	55%
Cornea verticillata	51%

Acroparesthesia (neuropathic pain in hands and feet) is the most common presenting symptom, with onset in the first decade of life in 71% of cases. This aligns with the known natural history of classic Fabry disease, where neuropathic pain is often the earliest clinical manifestation.

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Database