Neurofibromatosis Type 1; Clinical Symptoms of Familial and Sporadic Cases

Donated on 5/11/2025

A national NF1 database with 331 probands with tumors (167 sporadic and 142 familial cases) was evaluated.

Dataset Characteristics

Tabular

Subject Area

Health and Medicine

Associated Tasks

Classification

Feature Type

Real

# Instances

331

# Features

20

Dataset Information

Has Missing Values?

No

Introductory Paper

A machine learning approach for predicting familial and sporadic disease cases based on clinical symptoms: introduction of a new dataset

By P. Sharafi, Hilal Arslan, S. Ersoy Evans, Ali Varan, Ş. Ayter. 2025

Published in Turkish Bulletin of Hygiene and Experimental Biology

Variables Table

Variable NameRoleTypeDemographicDescriptionUnitsMissing Values
With TumorsTargetBinaryno
HealthyFeatureBinaryno
Age of MotherFeatureIntegerAgeyes
Age of FatherFeatureIntegerAgeyes
Age at First DiagnosisFeatureIntegerAgeyes
Café au lait (CLS)FeatureBinaryno
Axillary FrecklesFeatureBinaryno
Inguinal FrecklesFeatureBinaryno
Lisch NodulesFeatureBinaryno
Dermal NeurofibrominsFeatureBinaryno

0 to 10 of 21

Additional Variable Information

Class Labels

- Tumour Case: 0 (Without Tumours), 1 (With Tumours) - Case type: 0 (Sporadic Case), 1 (Familial case) - Café au lait (CLS): 0 (Absent),1 (Present) - Axillary Freckles: 0 (Absent), 1 (Present) - Inguinal Freckles: 0 (Absent), 1 (Present) - Lisch Nodules: 0 (Absent), 1 (Present) - Dermal Neurofibromins: 0 (Absent), 1 (Present) - Plexiform Neurofibromins: 0 (Absent), 1 (Present) - Optic Glioma: 0 (Absent), 1 (Present) - Skeletal Dysplasia: 0 (Absent), 1 (Present) - Learning Disability: 0 (Absent), 1 (Present) - Hypertension: 0 (Absent), 1 (Present) - Astrocytoma: 0 (Absent), 1 (Present) - Hamartoma: 0 (Absent), 1 (Present) - Scoliosis: 0 (Absent), 1 (Present) - Other Symptoms: 0 (Absent), 1 (at least one of these present: Epilepsy, Rhabdomyoma, Ganglioblastoma, MPNST, Leukaemia, Noonan/Watson/Myelodysplastic Syndrome, Cranial/Brain stem tumour)

Dataset Files

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1 citations
588 views

Creators

P. Sharafi

Hilal Arslan

hilalarslanceng@gmail.com

Ankara Yildirim Beyazit University, Department of Software Engineering

S. Ersoy

Ali Varan

Ş. Ayter

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