piebaldism
Findings
No curated finding names piebaldism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Definition from the Mondo Disease Ontology (MONDO:0008244), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Piebald skin depigmentationHPOHP:0007544
- Very frequent (80% to 99% of cases)
- White forelockHPOHP:0002211
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Frequent (30% to 79% of cases)
- MaculeHPOHP:0012733
- Frequent (30% to 79% of cases)
- White eyebrowHPO · MondoHP:0002226
- Frequent (30% to 79% of cases)
- White eyelashesHPO · MondoHP:0002227
- Frequent (30% to 79% of cases)
- Abnormal calvaria morphologyHPOHP:0002683
- Occasional (5% to 29% of cases)
- Aganglionic megacolonHPOHP:0002251
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- Heterochromia iridisHPOHP:0001100
- Occasional (5% to 29% of cases)
Show the remaining 7
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Long philtrumHPOHP:0000343
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KITHGNC:6342
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SNAI2HGNC:11094
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: piebaldism
- Also called
- piebald trait