Kenmerk
Hyperinsulinemia
An increased concentration of insulin in the blood.
Samenvatting
- Ook bekend als
- Elevated insulin level
- Lichaamssysteem
- Laboratory abnormalityAbnormality of the endocrine system
ReferentiegenoomGRCh38hg38
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Mijn Genome Test bestellen142 genen gekoppeld aan Hyperinsulinemia
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Hyperinsulinemia 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 |
|---|---|---|
| INSRinsulin receptor | Altijd | In 3 aandoeningen |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Altijd | In 1 aandoening |
| PLAAT3phospholipase A and acyltransferase 3 | Altijd | In 1 aandoening |
| PLIN1perilipin 1 | Altijd | In 1 aandoening |
| PPARGperoxisome proliferator activated receptor gamma | Altijd | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| SLC25A36solute carrier family 25 member 36 | Altijd | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Heel vaak (80–99%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Heel vaak (80–99%) | In 2 aandoeningen |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 1 aandoening |
| HNF4Ahepatocyte nuclear factor 4 alpha | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Heel vaak (80–99%) | In 1 aandoening |
| LEPleptin | Heel vaak (80–99%) | In 1 aandoening |
| LEPRleptin receptor | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 4 aandoeningen |
| MEN1menin 1 | Heel vaak (80–99%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| YY1YY1 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Vaak (30–79%) | In 1 aandoening |
| ADCY3adenylate cyclase 3 | Vaak (30–79%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Vaak (30–79%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Vaak (30–79%) | In 1 aandoening |
| AHRaryl hydrocarbon receptor | Vaak (30–79%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Vaak (30–79%) | In 2 aandoeningen |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Vaak (30–79%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Vaak (30–79%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Vaak (30–79%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 1 aandoening |
| BEST1bestrophin 1 | Vaak (30–79%) | In 1 aandoening |
| CA4carbonic anhydrase 4 | Vaak (30–79%) | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CDHR1cadherin related family member 1 | Vaak (30–79%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Vaak (30–79%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 1 aandoening |
| CLRN1clarin 1 | Vaak (30–79%) | In 1 aandoening |
Toon nog 102 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Vaak (30–79%) | In 1 aandoening |
| CPEcarboxypeptidase E | Vaak (30–79%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Vaak (30–79%) | In 1 aandoening |
| CRXcone-rod homeobox | Vaak (30–79%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Vaak (30–79%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Vaak (30–79%) | In 1 aandoening |
| ESR1estrogen receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| EYSEGF-like photoreceptor maintenance factor | Vaak (30–79%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Vaak (30–79%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Vaak (30–79%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Vaak (30–79%) | In 1 aandoening |
| GUCA1Bguanylate cyclase activator 1B | Vaak (30–79%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| HNF1AHNF1 homeobox A | Vaak (30–79%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Vaak (30–79%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT88intraflagellar transport 88 | Vaak (30–79%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Vaak (30–79%) | In 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Vaak (30–79%) | In 1 aandoening |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Vaak (30–79%) | In 1 aandoening |
| KIAA1549KIAA1549 | Vaak (30–79%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Vaak (30–79%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Vaak (30–79%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Vaak (30–79%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Vaak (30–79%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Vaak (30–79%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Vaak (30–79%) | In 1 aandoening |
| NRLneural retina leucine zipper | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Vaak (30–79%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Vaak (30–79%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Vaak (30–79%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Vaak (30–79%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Vaak (30–79%) | In 1 aandoening |
| PROM1prominin 1 | Vaak (30–79%) | In 1 aandoening |
| PRPF3pre-mRNA processing factor 3 | Vaak (30–79%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Vaak (30–79%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Vaak (30–79%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Vaak (30–79%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Vaak (30–79%) | In 1 aandoening |
| PRPH2peripherin 2 | Vaak (30–79%) | In 1 aandoening |
| RBP3retinol binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Vaak (30–79%) | In 1 aandoening |
| REEP6receptor accessory protein 6 | Vaak (30–79%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Vaak (30–79%) | In 1 aandoening |
| RHOrhodopsin | Vaak (30–79%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Vaak (30–79%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Vaak (30–79%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Vaak (30–79%) | In 1 aandoening |
| RP1L1RP1 like 1 | Vaak (30–79%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Vaak (30–79%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Vaak (30–79%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Vaak (30–79%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Vaak (30–79%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Vaak (30–79%) | In 1 aandoening |
| SAXO6stabilizer of axonemal microtubules 6 | Vaak (30–79%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Vaak (30–79%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Vaak (30–79%) | In 1 aandoening |
| SLC7A14solute carrier family 7 member 14 | Vaak (30–79%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Vaak (30–79%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Vaak (30–79%) | In 1 aandoening |
| TULP1TUB like protein 1 | Vaak (30–79%) | In 1 aandoening |
| USH2Ausherin | Vaak (30–79%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Vaak (30–79%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Vaak (30–79%) | In 1 aandoening |
| GALK1galactokinase 1 | Soms (5–29%) | In 1 aandoening |
| INSinsulin | Soms (5–29%) | In 1 aandoening |
| MC4Rmelanocortin 4 receptor | Soms (5–29%) | In 2 aandoeningen |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Soms (5–29%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| POMCproopiomelanocortin | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Zelden (1–4%) | In 1 aandoening |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| MAGEL2MAGE family member L2 | Niet vastgelegd | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Niet vastgelegd | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Niet vastgelegd | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Niet vastgelegd | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Niet vastgelegd | In 1 aandoening |
| SLC16A1solute carrier family 16 member 1 | Niet vastgelegd | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Niet vastgelegd | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Niet vastgelegd | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | 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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