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Kenmerk
Absent spleen
Klinische naam: Asplenia
Absence (aplasia) of the spleen.
Samenvatting
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/asplenia.json"
page <- fromJSON(url)
page$trait$nameAbsent spleenHP:0001746
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Lees de genen die aan Absent spleen gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen37 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Primary Ciliary DyskinesiaReads 46 of these genesCCDC39CCDC40CCNOCFAP221CFAP298CFAP300About this report →
- Meckel SyndromeReads 9 of these genesB9D1B9D2MKS1RPGRIP1LTCTN2TMEM107About this report →
- Joubert Syndrome And Related DisordersReads 16 of these genesB9D1B9D2CC2D2ACEP290CSPP1MKS1About this report →
- Heterotaxy & Laterality DefectsReads 6 of these genesGDF1CFC1ZIC3MNS1NODALDAW1About this report →
Show 33 more reports
- Tubular Aggregate MyopathyReads 2 of these genesORAI1STIM1About this report →
- ThalassaemiaReads 3 of these genesHBBHBG1HBG2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 8 of these genesCC2D2ACEP290CSPP1MKS1TMEM216TMEM231About this report →
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsReads 1 of these genesFOXF1About this report →
- Autoimmune Polyendocrine Syndrome Type 1 (APECED)Reads 1 of these genesAIREAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- FAM111A-Related Skeletal DysplasiaReads 1 of these genesFAM111AAbout this report →
- Familial Isolated Congenital AspleniaReads 1 of these genesRPSAAbout this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 3 of these genesNEK8NPHP3TMEM67About this report →
- Congenital Dyserythropoietic AnaemiasReads 1 of these genesKLF1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesHBBAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 2 of these genesCEP290RPGRIP1About this report →
- Bardet-Biedl and Alström SyndromesReads 2 of these genesCEP290MKS1About this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesCC2D2ACEP290CSPP1MKS1TMEM216TMEM231About this report →
- Loeys-Dietz SyndromeReads 1 of these genesSMAD2About this report →
- PolycythemiaReads 1 of these genesHBBAbout this report →
- Retinitis PigmentosaReads 3 of these genesCC2D2AOFD1RPGRAbout this report →
- Marfan Like SyndromesReads 1 of these genesSMAD2About this report →
- Male InfertilityReads 2 of these genesDNAH1SPEF2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesNEK8About this report →
- Autoimmune DiseaseReads 1 of these genesAIREAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesTWIST1About this report →
- Other Inborn Errors of ImmunityReads 3 of these genesORAI1STIM1RPSAAbout this report →
- Thyroid CancerReads 1 of these genesAIREAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesSTIM1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesZEB2About this report →
- Intellectual DisabilityReads 1 of these genesZEB2About this report →
Lees de genen die aan Absent spleen gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen98 genen gekoppeld aan Absent spleen
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Absent spleen 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 |
|---|---|---|
| DAND5DAN domain BMP antagonist family member 5 | Altijd | In 1 aandoening |
| FRYLFRY like transcription coactivator | Altijd | In 1 aandoening |
| GDF1growth differentiation factor 1 | Altijd | In 1 aandoening |
| HMOX1heme oxygenase 1 | Altijd | In 2 aandoeningen |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| AIREautoimmune regulator | Vaak (30–79%) | In 2 aandoeningen |
| CCDC32coiled-coil domain containing 32 | Vaak (30–79%) | In 1 aandoening |
| CFC1cryptic, EGF-CFC family member 1 | Vaak (30–79%) | In 1 aandoening |
| CIROZciliated left-right organizer protein containing ZP-N domains | Vaak (30–79%) | In 1 aandoening |
| NEK8NIMA related kinase 8 | Vaak (30–79%) | In 2 aandoeningen |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 1 aandoening |
| ZIC3Zic family zinc finger 3 | Vaak (30–79%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| FAM111AFAM111 trypsin like peptidase A | Soms (5–29%) | In 1 aandoening |
| FOXF1forkhead box F1 | Soms (5–29%) | In 2 aandoeningen |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 1 aandoening |
| HBG1hemoglobin subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| HBG2hemoglobin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| KLF1KLF transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| MNS1meiosis specific nuclear structural 1 | Soms (5–29%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Soms (5–29%) | In 2 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Soms (5–29%) | In 1 aandoening |
| TMEM107transmembrane protein 107 | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 1 aandoening |
Toon nog 58 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| BRWD1bromodomain and WD repeat domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCNOcyclin O | Zelden (1–4%) | In 1 aandoening |
| CFAP221cilia and flagella associated protein 221 | Zelden (1–4%) | In 1 aandoening |
| CFAP298cilia and flagella associated protein 298 | Zelden (1–4%) | In 1 aandoening |
| CFAP300cilia and flagella associated protein 300 | Zelden (1–4%) | In 1 aandoening |
| CFAP74cilia and flagella associated protein 74 | Zelden (1–4%) | In 1 aandoening |
| CLXNcalaxin | Zelden (1–4%) | In 1 aandoening |
| DAW1dynein assembly factor with WD repeats 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF1dynein axonemal assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF11dynein axonemal assembly factor 11 | Zelden (1–4%) | In 1 aandoening |
| DNAAF19dynein axonemal assembly factor 19 | Zelden (1–4%) | In 1 aandoening |
| DNAAF2dynein axonemal assembly factor 2 | Zelden (1–4%) | In 1 aandoening |
| DNAAF3dynein axonemal assembly factor 3 | Zelden (1–4%) | In 1 aandoening |
| DNAAF4dynein axonemal assembly factor 4 | Zelden (1–4%) | In 1 aandoening |
| DNAAF5dynein axonemal assembly factor 5 | Zelden (1–4%) | In 1 aandoening |
| DNAAF6dynein axonemal assembly factor 6 | Zelden (1–4%) | In 1 aandoening |
| DNAH1dynein axonemal heavy chain 1 | Zelden (1–4%) | In 1 aandoening |
| DNAH11dynein axonemal heavy chain 11 | Zelden (1–4%) | In 1 aandoening |
| DNAH5dynein axonemal heavy chain 5 | Zelden (1–4%) | In 1 aandoening |
| DNAH7dynein axonemal heavy chain 7 | Zelden (1–4%) | In 1 aandoening |
| DNAH9dynein axonemal heavy chain 9 | Zelden (1–4%) | In 1 aandoening |
| DNAI1dynein axonemal intermediate chain 1 | Zelden (1–4%) | In 2 aandoeningen |
| DNAI2dynein axonemal intermediate chain 2 | Zelden (1–4%) | In 1 aandoening |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Zelden (1–4%) | In 1 aandoening |
| DNAL1dynein axonemal light chain 1 | Zelden (1–4%) | In 1 aandoening |
| DRC1dynein regulatory complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| DRC2dynein regulatory complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| DRC4dynein regulatory complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| FOXJ1forkhead box J1 | Zelden (1–4%) | In 1 aandoening |
| GAS2L2growth arrest specific 2 like 2 | Zelden (1–4%) | In 1 aandoening |
| HYDINHYDIN axonemal central pair apparatus protein | Zelden (1–4%) | In 1 aandoening |
| LRRC56leucine rich repeat containing 56 | Zelden (1–4%) | In 1 aandoening |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Zelden (1–4%) | In 1 aandoening |
| NEK10NIMA related kinase 10 | Zelden (1–4%) | In 1 aandoening |
| NME5NME/NM23 family member 5 | Zelden (1–4%) | In 1 aandoening |
| NME8NME/NM23 family member 8 | Zelden (1–4%) | In 1 aandoening |
| ODAD1outer dynein arm docking complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| ODAD2outer dynein arm docking complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| ODAD3outer dynein arm docking complex subunit 3 | Zelden (1–4%) | In 1 aandoening |
| ODAD4outer dynein arm docking complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Zelden (1–4%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Zelden (1–4%) | In 1 aandoening |
| RSPH1radial spoke head component 1 | Zelden (1–4%) | In 1 aandoening |
| RSPH3radial spoke head 3 | Zelden (1–4%) | In 1 aandoening |
| RSPH4Aradial spoke head component 4A | Zelden (1–4%) | In 1 aandoening |
| RSPH9radial spoke head component 9 | Zelden (1–4%) | In 1 aandoening |
| SPAG1sperm associated antigen 1 | Zelden (1–4%) | In 1 aandoening |
| SPEF2sperm flagellar and cilia associated 2 | Zelden (1–4%) | In 1 aandoening |
| STK36serine/threonine kinase 36 | Zelden (1–4%) | In 1 aandoening |
| TTC12tetratricopeptide repeat domain 12 | Zelden (1–4%) | In 1 aandoening |
| ZMYND10zinc finger MYND-type containing 10 | Zelden (1–4%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Niet vastgelegd | In 1 aandoening |
| RPSAribosomal protein SA | 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 2026.10.19-9814e911.
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