Kenmerk
Open skin sore
Klinische naam: Skin ulcer
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Samenvatting
- Lichaamssysteem
- Abnormality of the integument
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Open skin sore voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PEPDpeptidase D | Altijd | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Altijd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Altijd | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| BTKBruton tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| CCT5chaperonin containing TCP1 subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| CLEC7AC-type lectin domain containing 7A | Heel vaak (80–99%) | In 1 aandoening |
| DOCK8dedicator of cytokinesis 8 | Heel vaak (80–99%) | In 1 aandoening |
| IL17Finterleukin 17F | Heel vaak (80–99%) | In 1 aandoening |
| IL17RAinterleukin 17 receptor A | Heel vaak (80–99%) | In 1 aandoening |
| IL17RCinterleukin 17 receptor C | Heel vaak (80–99%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LMNAlamin A/C | Heel vaak (80–99%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Heel vaak (80–99%) | In 1 aandoening |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Heel vaak (80–99%) | In 1 aandoening |
| TP63tumor protein p63 | Heel vaak (80–99%) | In 1 aandoening |
| TRAF3IP2TRAF3 interacting protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Vaak (30–79%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| AQP5aquaporin 5 | Vaak (30–79%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| ATL3atlastin GTPase 3 | Vaak (30–79%) | In 1 aandoening |
| BMS1BMS1 ribosome biogenesis factor | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 2 aandoeningen |
| CCN2cellular communication network factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| CCR6C-C motif chemokine receptor 6 | Vaak (30–79%) | In 2 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Vaak (30–79%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Vaak (30–79%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Vaak (30–79%) | In 1 aandoening |
| HAVCR2hepatitis A virus cellular receptor 2 | Vaak (30–79%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Vaak (30–79%) | In 4 aandoeningen |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 2 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 3 aandoeningen |
| IL12Binterleukin 12B | Vaak (30–79%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| ITGB4integrin subunit beta 4 | Vaak (30–79%) | In 1 aandoening |
| KIAA0319LKIAA0319 like | Vaak (30–79%) | In 1 aandoening |
Toon nog 75 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LBRlamin B receptor | Vaak (30–79%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Vaak (30–79%) | In 1 aandoening |
| NHP2NHP2 ribonucleoprotein | Vaak (30–79%) | In 1 aandoening |
| NOP10NOP10 ribonucleoprotein | Vaak (30–79%) | In 1 aandoening |
| NPM1nucleophosmin 1 | Vaak (30–79%) | In 1 aandoening |
| PARNpoly(A)-specific ribonuclease | Vaak (30–79%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Vaak (30–79%) | In 1 aandoening |
| PERPp53 apoptosis effector related to PMP22 | Vaak (30–79%) | In 1 aandoening |
| PLECplectin | Vaak (30–79%) | In 1 aandoening |
| RTEL1regulator of telomere elongation helicase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC19A1solute carrier family 19 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Vaak (30–79%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| TERCtelomerase RNA component | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 1 aandoening |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Vaak (30–79%) | In 1 aandoening |
| TYMSthymidylate synthetase | Vaak (30–79%) | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| WRAP53WD repeat containing antisense to TP53 | Vaak (30–79%) | In 1 aandoening |
| WRNWRN RecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| AK2adenylate kinase 2 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| CD28CD28 molecule | Soms (5–29%) | In 1 aandoening |
| CDH23cadherin related 23 | Soms (5–29%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 2 aandoeningen |
| CYBAcytochrome b-245 alpha chain | Soms (5–29%) | In 1 aandoening |
| CYBBcytochrome b-245 beta chain | Soms (5–29%) | In 1 aandoening |
| CYBC1cytochrome b-245 chaperone 1 | Soms (5–29%) | In 1 aandoening |
| EPB41erythrocyte membrane protein band 4.1 | Soms (5–29%) | In 1 aandoening |
| EPHB4EPH receptor B4 | Soms (5–29%) | In 1 aandoening |
| GNAQG protein subunit alpha q | Soms (5–29%) | In 1 aandoening |
| GYPCglycophorin C (Gerbich blood group) | Soms (5–29%) | In 1 aandoening |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Soms (5–29%) | In 1 aandoening |
| ITGB2integrin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KRT1keratin 1 | Soms (5–29%) | In 1 aandoening |
| KRT10keratin 10 | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NCF2neutrophil cytosolic factor 2 | Soms (5–29%) | In 1 aandoening |
| NCF4neutrophil cytosolic factor 4 | Soms (5–29%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Soms (5–29%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PROS1protein S | Soms (5–29%) | In 1 aandoening |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 2 aandoeningen |
| RASA1RAS p21 protein activator 1 | Soms (5–29%) | In 1 aandoening |
| SPTA1spectrin alpha, erythrocytic 1 | Soms (5–29%) | In 2 aandoeningen |
| SPTBspectrin beta, erythrocytic | Soms (5–29%) | In 2 aandoeningen |
| TNFRSF1BTNF receptor superfamily member 1B | Soms (5–29%) | In 1 aandoening |
| TP53tumor protein p53 | Soms (5–29%) | In 1 aandoening |
| USP48ubiquitin specific peptidase 48 | Soms (5–29%) | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Soms (5–29%) | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Soms (5–29%) | In 1 aandoening |
| ANK1ankyrin 1 | Zelden (1–4%) | In 1 aandoening |
| EPB42erythrocyte membrane protein band 4.2 | Zelden (1–4%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Zelden (1–4%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Zelden (1–4%) | In 1 aandoening |
| TAP1transporter 1, ATP binding cassette subfamily B member | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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