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hyperpigmentation with or without hypopigmentation, familial progressive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperpigmentation with or without hypopigmentation, familial progressive

MONDO:0007771

Also known as:hyperpigmentation with or without hypopigmentationmacules, hereditary congenital hypopigmented and hyperpigmentedmelanosis, universal

Overview

GeneticsAutosomal dominant · KITLG (chr 12)

Clinical Presentation

Features include sometimes findings: Vitiligo. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Progressive hyperpigmentation, Vitiligo, Hypopigmented skin patches

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KITLG encodes KIT ligand (273 aa). Ligand for the receptor-type protein-tyrosine kinase KIT. Highest expression in Cells Cultured fibroblasts (65.6 TPM) and Esophagus Muscularis (42.9 TPM).

Hyperpigmentation with or without hypopigmentation, familial progressive is associated with mutations in the KITLG gene on chromosome 12.

KITLG is classified as a druggable target (Druggable Genome, Growth Factor, and Kinase categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for KITLG is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperpigmentation with or without hypopigmentation, familial progressive has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperpigmentation with or without hypopigmentation, familial progressive.

303 publications have been identified in PubMed for hyperpigmentation with or without hypopigmentation, familial progressive. Research spans Review / Meta-Analysis (32%), Clinical Trial Publication (26%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Research summaries	96	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:145250

GARD

Genetic and Rare Diseases Info Center

GARD:18073

Questions for Your Care Team

→Should I pursue genetic testing for KITLG, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperpigmentation with or without hypopigmentation, familial progressive

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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