Kenmerk
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Samenvatting
- Ook bekend als
- Infrequent bowel movements
- Lichaamssysteem
- Abnormality of the digestive system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Chronic constipation 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| B2Mbeta-2-microglobulin | Altijd | In 1 aandoening |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| DCPSdecapping enzyme, scavenger | Altijd | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ELF4E74 like ETS transcription factor 4 | Altijd | In 1 aandoening |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Altijd | In 1 aandoening |
| FBXO28F-box protein 28 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| LBX1ladybird homeobox 1 | Altijd | In 1 aandoening |
| MYO1Hmyosin IH | Altijd | In 1 aandoening |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altijd | In 1 aandoening |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Altijd | In 1 aandoening |
| PLCB4phospholipase C beta 4 | Altijd | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altijd | In 1 aandoening |
| PRKG2protein kinase cGMP-dependent 2 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| RTN2reticulon 2 | Altijd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Altijd | In 1 aandoening |
| SLC25A36solute carrier family 25 member 36 | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 1 aandoening |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Altijd | In 1 aandoening |
| WASF1WASP family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Vaak (30–79%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
Toon nog 100 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Vaak (30–79%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Vaak (30–79%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Vaak (30–79%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GIGYF2GRB10 interacting GYF protein 2 | Vaak (30–79%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Vaak (30–79%) | In 1 aandoening |
| LMNB2lamin B2 | Vaak (30–79%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Vaak (30–79%) | In 2 aandoeningen |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 2 aandoeningen |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| MED13mediator complex subunit 13 | Vaak (30–79%) | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Vaak (30–79%) | In 1 aandoening |
| MNX1motor neuron and pancreas homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| MSL3MSL complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 1 aandoening |
| PAK2p21 (RAC1) activated kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| 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 |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Vaak (30–79%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | 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 |
| SOX17SRY-box transcription factor 17 | Vaak (30–79%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Vaak (30–79%) | In 1 aandoening |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Vaak (30–79%) | In 1 aandoening |
| TCEAL1transcription elongation factor A like 1 | Vaak (30–79%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Vaak (30–79%) | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 3 aandoeningen |
| UBE2Aubiquitin conjugating enzyme E2 A | Vaak (30–79%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Vaak (30–79%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Vaak (30–79%) | In 1 aandoening |
| VPS35VPS35 retromer complex component | Vaak (30–79%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ARSBarylsulfatase B | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 1 aandoening |
| EIF5Aeukaryotic translation initiation factor 5A | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| KMT5Blysine methyltransferase 5B | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Soms (5–29%) | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Soms (5–29%) | In 1 aandoening |
| MYH11myosin heavy chain 11 | Soms (5–29%) | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Soms (5–29%) | In 2 aandoeningen |
| PHOX2Bpaired like homeobox 2B | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Soms (5–29%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Soms (5–29%) | In 1 aandoening |
| RORARAR related orphan receptor A | Soms (5–29%) | In 1 aandoening |
| SEC61A1SEC61 translocon subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Soms (5–29%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Soms (5–29%) | In 1 aandoening |
| TNFRSF1ATNF receptor superfamily member 1A | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Zelden (1–4%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Zelden (1–4%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Zelden (1–4%) | In 1 aandoening |
| ELNelastin | Niet vastgelegd | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Niet vastgelegd | In 1 aandoening |
| MLXIPLMLX interacting protein like | Niet vastgelegd | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 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.
Bredere kenmerken
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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