Isla695924/NF1_Classification_data

Neurofibromatosis Type 1 (NF1) Clinical & Parental Metadata Dataset

1. Dataset Overview

This dataset contains extensive clinical, phenotype, and parental age metadata profiles for 2,100 patients clinically evaluated for Neurofibromatosis Type 1 (NF1). The data provides a valuable split between 1,142 Sporadic (de novo mutation) cases and 958 Familial (inherited) cases. It is designed for training binary classifiers to predict inheritance origin (Case Type), assessing symptom co-occurrences, or evaluating the statistical correlation between parental age adjustments and de novo mutational events. • Total Rows: 2,100 patients • Total Columns: 19 features • Data Layout: Fully encoded numeric integers (Binary 0/1 tracking presence/absence for clinical indicators, and raw integer scales for age metrics).

2. Feature Dictionary (Variable Information)

🔑 Primary Target Variable

• Case Type: Binary (0/1) — The transmission origin of the mutation. • 0: Familial case (inherited from an affected parent). • 1: Sporadic case (resulting from a de novo spontaneous germline mutation).

🤰 Parental Metadata

• Age of Mother: Numeric (Integer) — Biological mother's age at the time of the patient's birth. • Age of Father: Numeric (Integer) — Biological father's age at the time of the patient's birth (Highly relevant for advanced paternal age association studies in sporadic NF1 mutations).

🩺 Clinical Timeline & Phenotypic Subtypes

• Age at First Diagnosis: Numeric (Integer) — Patient's age (in years) when they were first diagnosed with NF1 clinical signs. • Tumour Case: Binary (0/1) — General tracking indicator for the presence of secondary benign or malignant tumor complications.

👁️ Skin & Ocular Diagnostic Criteria (NIH Core Guidelines)

• Café au lait (CLS): Binary (0/1) — Presence of flat, hyperpigmented macules matching diagnostic criteria (typically ≥ 6 patches). • Axillary Freckles: Binary (0/1) — Presence of intertriginous freckling under the armpits. • Inguinal Freckles: Binary (0/1) — Presence of skinfold freckling within the groin area. • Lisch Nodules: Binary (0/1) — Clear identification of melanocytic iris hamartomas during an ophthalmic slit-lamp examination.

🧠 Tumors & Structural Complications

• Dermal Neurofibromins: Binary (0/1) — Presence of cutaneous or subcutaneous benign nerve sheath tumors. • Plexiform Neurofibromins: Binary (0/1) — Presence of congenital structural tumors involving larger, deeper nerve networks. • Optic Glioma: Binary (0/1) — Identification of a pilocytic astrocytoma tumor affecting the visual pathways. • Astrocytoma: Binary (0/1) — Presence of localized central nervous system astrocytic glial cell tumors. • Hamartoma: Binary (0/1) — Non-cancerous, abnormal tissue growth clusters located elsewhere in bodily organs.

🦴 Skeletal & Systemic Symptoms

• Skeletal Dysplasia: Binary (0/1) — Presence of structural bone issues such as anterolateral bowing of the tibia or sphenoid wing dysplasia. • Scoliosis: Binary (0/1) — Curvature spine tracking associated with secondary NF1 spinal bone modeling. • Hypertension: Binary (0/1) — Elevated chronic blood pressure readings (often linked to renal artery stenosis or pheochromocytomas in NF1).

🎓 Cognitive & General Manifestations

• Learning Disability: Binary (0/1) — Cognitive delays, speech, motor coordination, or attentional challenges (ADHD-like profiles) common in pediatric NF1 cohorts. • Other Symptoms: Binary (0/1) — Catch-all marker denoting other miscellaneous clinical manifestations observed.