Rare diseases · Sign or symptom
Hypopigmentation of hair
Loss of hair color
HP:0005599
Rare diseases that can present with this48
Very common80–99%
19- Acquired hypertrichosis lanuginosa
- Congenital heart defect-round face-developmental delay syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Ermine phenotype
- Griscelli syndrome type 2
- Griscelli syndrome type 3
- Menkes disease
- Neuroectodermal melanolysosomal disease
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 1B
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Piebaldism
- Piebald trait-neurologic defects syndrome
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
- Tietz syndrome
- Waardenburg-Shah syndrome
- Waardenburg syndrome
- Waardenburg syndrome type 1
- Waardenburg syndrome type 2
Common30–79%
17- Angelman syndrome due to a point mutation
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Ataxia-telangiectasia
- Chédiak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Koolen-De Vries syndrome
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 4
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Prader-Willi syndrome
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Trichohepatoenteric syndrome
- Woolly hair
Sometimes5–29%
10- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Autosomal recessive faciodigitogenital syndrome
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Hidrotic ectodermal dysplasia
- Muenke syndrome
- Oculocerebral hypopigmentation syndrome, Cross type
- Prader-Willi syndrome due to translocation
- Schaaf-Yang syndrome
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hair hypopigmentation · Loss of hair colour
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.