Kenmerk
Delayed puberty
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Samenvatting
- Ook bekend als
- Delayed pubertal development, Delayed pubertal growth, Pubertal delay
- Lichaamssysteem
- Abnormality of the endocrine systemGrowth abnormality
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Delayed puberty 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 |
|---|---|---|
| BMP15bone morphogenetic protein 15 | Altijd | In 2 aandoeningen |
| BTKBruton tyrosine kinase | Altijd | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Altijd | In 2 aandoeningen |
| ESR1estrogen receptor 1 | Altijd | In 1 aandoening |
| FAM111BFAM111 trypsin like peptidase B | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| HROBhomologous recombination factor with OB-fold | Altijd | In 1 aandoening |
| LEPRleptin receptor | Altijd | In 1 aandoening |
| PRDM13PR/SET domain 13 | Altijd | In 1 aandoening |
| PSMC3IPPSMC3 interacting protein | Altijd | In 2 aandoeningen |
| RBM28RNA binding motif protein 28 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SPIDRscaffold protein involved in DNA repair | Altijd | In 2 aandoeningen |
| TAF13TATA-box binding protein associated factor 13 | Altijd | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Altijd | In 1 aandoening |
| ZSWIM7zinc finger SWIM-type containing 7 | Altijd | In 2 aandoeningen |
| ANOS1anosmin 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| BNC1basonuclin zinc finger protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Heel vaak (80–99%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Heel vaak (80–99%) | In 4 aandoeningen |
| CYB5Acytochrome b5 type A | Heel vaak (80–99%) | In 1 aandoening |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DCCDCC netrin 1 receptor | Heel vaak (80–99%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| EMX2empty spiracles homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| FEZF1FEZ family zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Heel vaak (80–99%) | In 3 aandoeningen |
| FGF8fibroblast growth factor 8 | Heel vaak (80–99%) | In 3 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FIGLAfolliculogenesis specific bHLH transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FSHBfollicle stimulating hormone subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| FSHRfollicle stimulating hormone receptor | Heel vaak (80–99%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HESX1HESX homeobox 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IL17RDinterleukin 17 receptor D | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 159 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| INSRinsulin receptor | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Heel vaak (80–99%) | In 2 aandoeningen |
| MSH4mutS homolog 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Heel vaak (80–99%) | In 1 aandoening |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NUP107nucleoporin 107 | Heel vaak (80–99%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Heel vaak (80–99%) | In 1 aandoening |
| POLR3HRNA polymerase III subunit H | Heel vaak (80–99%) | In 1 aandoening |
| PROK2prokineticin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PROKR2prokineticin receptor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Heel vaak (80–99%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Heel vaak (80–99%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TACR3tachykinin receptor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Heel vaak (80–99%) | In 3 aandoeningen |
| ARandrogen receptor | Vaak (30–79%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 1 aandoening |
| CPEcarboxypeptidase E | Vaak (30–79%) | In 1 aandoening |
| DHX37DEAH-box helicase 37 | Vaak (30–79%) | In 1 aandoening |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| GALTgalactose-1-phosphate uridylyltransferase | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GHRgrowth hormone receptor | Vaak (30–79%) | In 2 aandoeningen |
| GLAgalactosidase alpha | Vaak (30–79%) | In 2 aandoeningen |
| GNRH1gonadotropin releasing hormone 1 | Vaak (30–79%) | In 2 aandoeningen |
| GNRHRgonadotropin releasing hormone receptor | Vaak (30–79%) | In 1 aandoening |
| GPR161G protein-coupled receptor 161 | Vaak (30–79%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| IGFALSinsulin like growth factor binding protein acid labile subunit | Vaak (30–79%) | In 2 aandoeningen |
| KISS1KiSS-1 metastasis suppressor | Vaak (30–79%) | In 1 aandoening |
| KISS1RKISS1 receptor | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| LPIN2lipin 2 | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 4 aandoeningen |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Vaak (30–79%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NHLH2nescient helix-loop-helix 2 | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 2 aandoeningen |
| NPAP1nuclear pore associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Vaak (30–79%) | In 3 aandoeningen |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 3 aandoeningen |
| POLR3GLRNA polymerase III subunit GL | Vaak (30–79%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Vaak (30–79%) | In 2 aandoeningen |
| PUS1pseudouridine synthase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PWAR1Prader Willi/Angelman region RNA 1 | Vaak (30–79%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Vaak (30–79%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Vaak (30–79%) | In 1 aandoening |
| ROBO1roundabout guidance receptor 1 | Vaak (30–79%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Vaak (30–79%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 3 aandoeningen |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Vaak (30–79%) | In 1 aandoening |
| SRYsex determining region Y | Vaak (30–79%) | In 2 aandoeningen |
| STAT1signal transducer and activator of transcription 1 | Vaak (30–79%) | In 2 aandoeningen |
| STAT5Bsignal transducer and activator of transcription 5B | Vaak (30–79%) | In 2 aandoeningen |
| TAC3tachykinin precursor 3 | Vaak (30–79%) | In 1 aandoening |
| TBX3T-box transcription factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| TRMT10AtRNA methyltransferase 10A | Vaak (30–79%) | In 2 aandoeningen |
| VAMP7vesicle associated membrane protein 7 | Vaak (30–79%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Vaak (30–79%) | In 2 aandoeningen |
| WFS1wolframin ER transmembrane glycoprotein | Vaak (30–79%) | In 2 aandoeningen |
| WT1WT1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ZFPM2zinc finger protein, FOG family member 2 | Vaak (30–79%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Soms (5–29%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CDH23cadherin related 23 | Soms (5–29%) | In 2 aandoeningen |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Soms (5–29%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DIAPH1diaphanous related formin 1 | Soms (5–29%) | In 1 aandoening |
| EIF5Aeukaryotic translation initiation factor 5A | Soms (5–29%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| FOXA2forkhead box A2 | Soms (5–29%) | In 1 aandoening |
| GHSRgrowth hormone secretagogue receptor | Soms (5–29%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 2 aandoeningen |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | Soms (5–29%) | In 1 aandoening |
| MMP1matrix metallopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Soms (5–29%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Soms (5–29%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Soms (5–29%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| POMCproopiomelanocortin | Soms (5–29%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Soms (5–29%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| PTRH2peptidyl-tRNA hydrolase 2 | Soms (5–29%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Soms (5–29%) | In 2 aandoeningen |
| SLC37A4solute carrier family 37 member 4 | Soms (5–29%) | In 3 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 2 aandoeningen |
| TRIP4thyroid hormone receptor interactor 4 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Niet vastgelegd | In 1 aandoening |
| CENPTcentromere protein T | Niet vastgelegd | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Niet vastgelegd | In 1 aandoening |
| CUL4Bcullin 4B | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Niet vastgelegd | In 1 aandoening |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Niet vastgelegd | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Niet vastgelegd | In 1 aandoening |
| LHBluteinizing hormone subunit beta | Niet vastgelegd | In 1 aandoening |
| MSMO1methylsterol monooxygenase 1 | Niet vastgelegd | In 1 aandoening |
| PHF6PHD finger protein 6 | Niet vastgelegd | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| POF1BPOF1B actin binding protein | Niet vastgelegd | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Niet vastgelegd | In 1 aandoening |
| TCF12transcription factor 12 | Niet vastgelegd | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | 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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