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Egenskap
Abnormal skin pigmentation
An abnormality of the pigmentation of the skin.
Sammendrag
- Også kalt
- Abnormal pigmentation, Abnormality of pigmentation, Abnormality of skin pigmentation, Pigmentary changes, Pigmentary skin changes, Pigmentation anomaly
- Kroppssystem
- Abnormality of the integument
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-skin-pigmentation.json"
page <- fromJSON(url)
page$trait$nameAbnormal skin pigmentationHP:0001000
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Les genene knyttet til Abnormal skin pigmentation, og resten av genomet ditt, med én test.
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Få mitt Genome Test56 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.
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- DNA Repair DiseaseReads 20 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Epidermolysis BullosaReads 7 of these genesCOL17A1ITGB4LAMA3LAMB3LAMC2FERMT1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
Show 52 more reports
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 3 of these genesBUB1BCEP57TRIP13About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- AlkaptonuriaReads 1 of these genesHGDAbout this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)Reads 1 of these genesTUBGCP6About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Ectodermal DysplasiasReads 4 of these genesIKBKGEDAREDARADDKDF1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesAKT1About this report →
- Darier and Hailey-Hailey DiseaseReads 1 of these genesATP2A2About this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 1 of these genesALKAbout this report →
- ThrombophiliaReads 2 of these genesPROCPROS1About this report →
- Noonan SyndromeReads 3 of these genesBRAFNRASRAF1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesCOX7BHCCSNDUFB11About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesKITAbout this report →
- MelanomaReads 1 of these genesMITFAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPRKAR1AAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Dyskeratosis CongenitaReads 2 of these genesWRAP53PARNAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesBRAFNRASRAF1About this report →
- Hypodontia and AnodontiaReads 1 of these genesLRP6About this report →
- Waardenburg SyndromeReads 1 of these genesMITFAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesTYRP1About this report →
- Familial Pulmonary FibrosisReads 1 of these genesPARNAbout this report →
- LipodystrophyReads 1 of these genesCAV1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Female InfertilityReads 2 of these genesFANCMTRIP13About this report →
- Amelogenesis ImperfectaReads 1 of these genesLAMB3About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesCOL17A1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesB4GALT7About this report →
- Epilepsy (Full Panel)Reads 3 of these genesZEB2FLNAPIGAAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesPIGASRD5A3About this report →
- Intellectual DisabilityReads 3 of these genesZEB2VPS13BDDX3XAbout this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Male InfertilityReads 1 of these genesFANCMAbout this report →
- Dilated CardiomyopathyReads 1 of these genesRAF1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesIDUAAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesABCD1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesABCD1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesNDUFB11About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesIKBKGAbout this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesABCD1About this report →
Les genene knyttet til Abnormal skin pigmentation, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test87 gener knyttet til Abnormal skin pigmentation
Endringer i disse genene forårsaker sjeldne tilstander der Abnormal skin pigmentation forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TYMSthymidylate synthetase | Alltid | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Alltid | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Svært ofte (80–99 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Svært ofte (80–99 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CAV1caveolin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Svært ofte (80–99 %) | I 1 tilstand |
| FANCAFA complementation group A | Svært ofte (80–99 %) | I 2 tilstander |
| FANCBFA complementation group B | Svært ofte (80–99 %) | I 1 tilstand |
| FANCCFA complementation group C | Svært ofte (80–99 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Svært ofte (80–99 %) | I 2 tilstander |
| FANCEFA complementation group E | Svært ofte (80–99 %) | I 1 tilstand |
| FANCFFA complementation group F | Svært ofte (80–99 %) | I 1 tilstand |
| FANCGFA complementation group G | Svært ofte (80–99 %) | I 1 tilstand |
| FANCIFA complementation group I | Svært ofte (80–99 %) | I 1 tilstand |
| FANCLFA complementation group L | Svært ofte (80–99 %) | I 1 tilstand |
| FANCMFA complementation group M | Svært ofte (80–99 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Svært ofte (80–99 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Svært ofte (80–99 %) | I 2 tilstander |
| IRF5interferon regulatory factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Svært ofte (80–99 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Svært ofte (80–99 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Svært ofte (80–99 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
Vis 47 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Svært ofte (80–99 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Svært ofte (80–99 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Svært ofte (80–99 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| FERMT1FERM domain containing kindlin 1 | Ofte (30–79 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Ofte (30–79 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Ofte (30–79 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ofte (30–79 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Noen ganger (5–29 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| EDARectodysplasin A receptor | Noen ganger (5–29 %) | I 1 tilstand |
| EDARADDEDAR associated via death domain | Noen ganger (5–29 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Noen ganger (5–29 %) | I 1 tilstand |
| KDF1keratinocyte differentiation factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PROCprotein C, inactivator of coagulation factors Va and VIIIa | Noen ganger (5–29 %) | I 1 tilstand |
| PROS1protein S | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF6TNF receptor associated factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| SLCO1B1solute carrier organic anion transporter family member 1B1 | Ikke registrert | I 1 tilstand |
| SLCO1B3solute carrier organic anion transporter family member 1B3 | Ikke registrert | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registrert | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registrert | I 1 tilstand |
| TYRP1tyrosinase related protein 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- Patchy darkened skin103 gener
- Patchy lightened skin65 gener
- Freckling44 gener
- Blotchy loss of skin color39 gener
- Numerous pigmented freckles13 gener
- Mottled skin coloring8 gener
- Reticulated skin pigmentation6 gener
- Dark circles around the eyes4 gener
- Depigmentation/hyperpigmentation of skin4 gener
- Blotching pigmentation of the skin2 gener
- Abnormal pigmentation in sun-exposed skin1 gen
- Fine, reticulate skin pigmentation1 gen
- Pigment incontinence1 gen
- Abnormal dermal melanosome morphology
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.21-311f020e.
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