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Trait
Hyperpigmented skin patches
Clinical name: Hypermelanotic macule
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Summary
- Also called
- Hyperpigmented spots, Hyperpigmented macules
- Body system
- Abnormality of the integument
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypermelanotic-macule.json"
page <- fromJSON(url)
page$trait$nameHyperpigmented skin patchesHP:0001034
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Get my Genome Test51 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Dyskeratosis CongenitaReads 12 of these genesACDCTC1DKC1NHP2NOP10NPM1About this report →
- Chronic Granulomatous DiseaseReads 6 of these genesCYBACYBBCYBC1NCF1NCF2NCF4About this report →
- DNA Repair DiseaseReads 10 of these genesERCC6XPADDB2ERCC2ERCC3ERCC4About this report →
- Familial Pulmonary FibrosisReads 3 of these genesPARNRTEL1TERTAbout this report →
Show 47 more reports
- NeurofibromatosisReads 2 of these genesLZTR1NF1About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Peutz-Jeghers SyndromeReads 1 of these genesSTK11About this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 5 of these genesGJA1GJB3GJB4KDSRKRT14About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 2 of these genesTERCTERTAbout this report →
- Darier and Hailey-Hailey DiseaseReads 1 of these genesATP2A2About this report →
- Familial Hidradenitis SuppurativaReads 1 of these genesPSENENAbout this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Epidermolysis BullosaReads 3 of these genesKRT14KRT5PLECAbout this report →
- LipodystrophyReads 2 of these genesLMNAZMPSTE24About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesERCC2ERCC5ERCC1About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesPLECLMNAPOGLUT1About this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesKITAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Other Inborn Errors of ImmunityReads 7 of these genesSMARCAL1CYBACYBBCYBC1NCF1NCF2About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesTNFRSF1AAbout this report →
- Congenital Disorders of GlycosylationReads 4 of these genesKRT5POFUT1POGLUT1ST3GAL5About this report →
- Waardenburg SyndromeReads 1 of these genesKITLGAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBKDSRAbout this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- Hereditary AmyloidosisReads 1 of these genesGPNMBAbout this report →
- Type I InterferonopathiesReads 1 of these genesACP5About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesANKLE2About this report →
- Ectodermal DysplasiasReads 1 of these genesKRT14About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesST3GAL5About this report →
- Noonan SyndromeReads 1 of these genesLZTR1About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesACTBAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPLECAbout this report →
- VitreoretinopathyReads 1 of these genesCTC1About this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesACP5About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Intellectual DisabilityReads 2 of these genesKDM6BBPTFAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesLZTR1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesLMNAAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesKITLGAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesLMNAAbout this report →
Read the genes linked to Hyperpigmented skin patches, and the rest of your genome, with one test.
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Get my Genome Test69 genes linked to Hyperpigmented skin patches
Changes in these genes cause rare conditions in which Hyperpigmented skin patches is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Always | In 1 condition |
| DDX11DEAD/H-box helicase 11 | Always | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 3 conditions |
| KITLGKIT ligand | Always | In 2 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Always | In 1 condition |
| SASH1SAM and SH3 domain containing 1 | Always | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Always | In 2 conditions |
| STK11serine/threonine kinase 11 | Always | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Always | In 2 conditions |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Very often (80–99%) | In 2 conditions |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Very often (80–99%) | In 1 condition |
| ACTBactin beta | Very often (80–99%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Very often (80–99%) | In 2 conditions |
| CTC1CST telomere replication complex component 1 | Very often (80–99%) | In 1 condition |
| CYBAcytochrome b-245 alpha chain | Very often (80–99%) | In 1 condition |
| CYBBcytochrome b-245 beta chain | Very often (80–99%) | In 1 condition |
| CYBC1cytochrome b-245 chaperone 1 | Very often (80–99%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Very often (80–99%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Very often (80–99%) | In 1 condition |
| GJB3gap junction protein beta 3 | Very often (80–99%) | In 1 condition |
| GJB4gap junction protein beta 4 | Very often (80–99%) | In 1 condition |
| GNAQG protein subunit alpha q | Very often (80–99%) | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NCF2neutrophil cytosolic factor 2 | Very often (80–99%) | In 1 condition |
| NCF4neutrophil cytosolic factor 4 | Very often (80–99%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Very often (80–99%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Very often (80–99%) | In 1 condition |
| NPM1nucleophosmin 1 | Very often (80–99%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Very often (80–99%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Very often (80–99%) | In 1 condition |
| TERCtelomerase RNA component | Very often (80–99%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Very often (80–99%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Very often (80–99%) | In 1 condition |
| TYMSthymidylate synthetase | Very often (80–99%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Very often (80–99%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Often (30–79%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Often (30–79%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Often (30–79%) | In 1 condition |
Show 29 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 2 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| KRT14keratin 14 | Often (30–79%) | In 2 conditions |
| KRT5keratin 5 | Often (30–79%) | In 3 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PLECplectin | Often (30–79%) | In 1 condition |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Often (30–79%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| GNASGNAS complex locus | Sometimes (5–29%) | In 1 condition |
| KDM6Blysine demethylase 6B | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| POFUT1protein O-fucosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POGLUT1protein O-glucosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| PSENENpresenilin enhancer, gamma-secretase subunit | Sometimes (5–29%) | In 1 condition |
| TNFRSF1ATNF receptor superfamily member 1A | Sometimes (5–29%) | In 1 condition |
| TP53RKTP53 regulating kinase | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Not recorded | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Not recorded | In 1 condition |
| GPNMBglycoprotein nmb | Not recorded | In 1 condition |
| IL6interleukin 6 | Not recorded | In 1 condition |
| INSRinsulin receptor | Not recorded | In 1 condition |
| MMP2matrix metallopeptidase 2 | Not recorded | In 1 condition |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.19-9814e911.
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