Træk
Thin corpus callosum
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Resumé
- Også kaldet
- Small corpus callosum, Thinning of the corpus callosum
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test186 gener knyttet til Thin corpus callosum
Ændringer i disse gener forårsager sjældne tilstande, hvor Thin corpus callosum ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Altid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CAMLGcalcium modulating ligand | Altid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Altid | I 2 tilstande |
| COG3component of oligomeric golgi complex 3 | Altid | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Altid | I 1 tilstand |
| DNM1dynamin 1 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Altid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Altid | I 1 tilstand |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIF2Akinesin family member 2A | Altid | I 1 tilstand |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Altid | I 1 tilstand |
Vis 146 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MRAPmelanocortin 2 receptor accessory protein | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Altid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Altid | I 1 tilstand |
| PLP1proteolipid protein 1 | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Altid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RNF220ring finger protein 220 | Altid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Altid | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Altid | I 1 tilstand |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| HID1HID1 domain containing | Meget ofte (80–99 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Meget ofte (80–99 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AMFRautocrine motility factor receptor | Ofte (30–79 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Ofte (30–79 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Ofte (30–79 %) | I 1 tilstand |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Ofte (30–79 %) | I 1 tilstand |
| MAST3microtubule associated serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| OTUD7AOTU deubiquitinase 7A | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Ofte (30–79 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Ofte (30–79 %) | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Ofte (30–79 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 2 tilstande |
| VPS4Avacuolar protein sorting 4 homolog A | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NFIBnuclear factor I B | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TNRtenascin R | Nogle gange (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjældent (1–4%) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger