Kenmerk
Malabsorption
Impaired ability to absorb one or more nutrients from the intestine.
Samenvatting
- Ook bekend als
- Intestinal malabsorption
- Lichaamssysteem
- Abnormality of the digestive system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Malabsorption 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 |
|---|---|---|
| CD55CD55 molecule (Cromer blood group) | Altijd | In 1 aandoening |
| DSG1desmoglein 1 | Altijd | In 1 aandoening |
| HYOU1hypoxia up-regulated 1 | Altijd | In 1 aandoening |
| NEUROG3neurogenin 3 | Altijd | In 2 aandoeningen |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 2 aandoeningen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Heel vaak (80–99%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Heel vaak (80–99%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CEACAM3CEA cell adhesion molecule 3 | Heel vaak (80–99%) | In 1 aandoening |
| CEACAM6CEA cell adhesion molecule 6 | Heel vaak (80–99%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Heel vaak (80–99%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| CLCA4chloride channel accessory 4 | Heel vaak (80–99%) | In 1 aandoening |
| CYBAcytochrome b-245 alpha chain | Heel vaak (80–99%) | In 1 aandoening |
| CYBBcytochrome b-245 beta chain | Heel vaak (80–99%) | In 1 aandoening |
| CYBC1cytochrome b-245 chaperone 1 | Heel vaak (80–99%) | In 1 aandoening |
| DCTN4dynactin subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| EDNRAendothelin receptor type A | Heel vaak (80–99%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| FAT4FAT atypical cadherin 4 | Heel vaak (80–99%) | In 1 aandoening |
| FLNAfilamin A | Heel vaak (80–99%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| GLAgalactosidase alpha | Heel vaak (80–99%) | In 1 aandoening |
| GSTM3glutathione S-transferase mu 3 | Heel vaak (80–99%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Heel vaak (80–99%) | In 1 aandoening |
| HMOX1heme oxygenase 1 | Heel vaak (80–99%) | In 1 aandoening |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Heel vaak (80–99%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| MIFmacrophage migration inhibitory factor | Heel vaak (80–99%) | In 1 aandoening |
| MLH1mutL homolog 1 | Heel vaak (80–99%) | In 1 aandoening |
| MSH2mutS homolog 2 | Heel vaak (80–99%) | In 1 aandoening |
| MSH6mutS homolog 6 | Heel vaak (80–99%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 150 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| NCF2neutrophil cytosolic factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NCF4neutrophil cytosolic factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Heel vaak (80–99%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Heel vaak (80–99%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Heel vaak (80–99%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Heel vaak (80–99%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 1 aandoening |
| SERPINA1serpin family A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC11A1solute carrier family 11 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A9solute carrier family 26 member 9 | Heel vaak (80–99%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A14solute carrier family 6 member 14 | Heel vaak (80–99%) | In 1 aandoening |
| SLC9A3solute carrier family 9 member A3 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| TGFB1transforming growth factor beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Vaak (30–79%) | In 1 aandoening |
| AK2adenylate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CCN2cellular communication network factor 2 | Vaak (30–79%) | In 1 aandoening |
| CCR6C-C motif chemokine receptor 6 | Vaak (30–79%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Vaak (30–79%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Vaak (30–79%) | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Vaak (30–79%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| DMP1dentin matrix acidic phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Vaak (30–79%) | In 2 aandoeningen |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Vaak (30–79%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | 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 |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Vaak (30–79%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Vaak (30–79%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Vaak (30–79%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Vaak (30–79%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Vaak (30–79%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Vaak (30–79%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Vaak (30–79%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 2 aandoeningen |
| RTEL1regulator of telomere elongation helicase 1 | Vaak (30–79%) | In 1 aandoening |
| RUNX1RUNX family transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SAA1serum amyloid A1 | Vaak (30–79%) | In 1 aandoening |
| SLC6A19solute carrier family 6 member 19 | Vaak (30–79%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Vaak (30–79%) | In 1 aandoening |
| TERCtelomerase RNA component | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Vaak (30–79%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TYMSthymidylate synthetase | Vaak (30–79%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | 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 |
| ZBTB24zinc finger and BTB domain containing 24 | Vaak (30–79%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Soms (5–29%) | In 1 aandoening |
| AIREautoimmune regulator | Soms (5–29%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BLNKB cell linker | Soms (5–29%) | In 1 aandoening |
| BTKBruton tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CALRcalreticulin | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CD79ACD79a molecule | Soms (5–29%) | In 1 aandoening |
| CD79BCD79b molecule | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| F5coagulation factor V | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FOXN1forkhead box N1 | Soms (5–29%) | In 1 aandoening |
| FOXP3forkhead box P3 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IGHMimmunoglobulin heavy constant mu | Soms (5–29%) | In 1 aandoening |
| IGLL1immunoglobulin lambda like polypeptide 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| JAK2Janus kinase 2 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LIG4DNA ligase 4 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LPIN2lipin 2 | Soms (5–29%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Soms (5–29%) | In 2 aandoeningen |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Soms (5–29%) | In 1 aandoening |
| SPI1Spi-1 proto-oncogene | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TCF3transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TREHtrehalase | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| ABCB11ATP binding cassette subfamily B member 11 | Niet vastgelegd | In 1 aandoening |
| ABCB4ATP binding cassette subfamily B member 4 | Niet vastgelegd | In 1 aandoening |
| ATP8B1ATPase phospholipid transporting 8B1 | Niet vastgelegd | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Niet vastgelegd | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Niet vastgelegd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Niet vastgelegd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Niet vastgelegd | In 1 aandoening |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Niet vastgelegd | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Niet vastgelegd | In 2 aandoeningen |
| RFX6regulatory factor X6 | Niet vastgelegd | In 1 aandoening |
| SIsucrase-isomaltase | Niet vastgelegd | In 1 aandoening |
| SLC2A2solute carrier family 2 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC46A1solute carrier family 46 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC5A1solute carrier family 5 member 1 | Niet vastgelegd | In 1 aandoening |
| TYMPthymidine phosphorylase | 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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