hyperpigmentation with or without hypopigmentation, familial progressive
MONDO:0007771Mondo
Findings
No curated finding names hyperpigmentation with or without hypopigmentation, familial progressive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 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.
- Cafe-au-lait spotHPOHP:0000957
- Hypermelanotic maculeHPOHP:0001034
- Hypopigmented skin patchesHPOHP:0001053
- Multiple lentiginesHPOHP:0001003
- Progressive hyperpigmentationHPOHP:0007505
Genes
1 gene
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.
- KITLGHGNC:6343
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: hyperpigmentation with or without hypopigmentation, familial progressive
- Also called
- hyperpigmentation with or without hypopigmentationmacules, hereditary congenital hypopigmented and hyperpigmentedmelanosis, universal