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Egenskap
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).
Sammendrag
- Også kalt
- Small corpus callosum, Thinning of the corpus callosum
- Kroppssystem
- Abnormality of the nervous system
Thin corpus callosumHP:0033725
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Få mitt Genome Test186 gener knyttet til Thin corpus callosum
Endringer i disse genene forårsaker sjeldne tilstander der Thin corpus callosum forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| CAMLGcalcium modulating ligand | Alltid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Alltid | I 2 tilstander |
| COG3component of oligomeric golgi complex 3 | Alltid | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Alltid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF2Akinesin family member 2A | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Alltid | I 1 tilstand |
Vis 146 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MRAPmelanocortin 2 receptor accessory protein | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Alltid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Alltid | I 1 tilstand |
| PLP1proteolipid protein 1 | Alltid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Alltid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNF220ring finger protein 220 | Alltid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Alltid | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Alltid | I 1 tilstand |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Alltid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Alltid | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| HID1HID1 domain containing | Svært ofte (80–99 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Svært 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Noen ganger (5–29 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NFIBnuclear factor I B | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TNRtenascin R | Noen ganger (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjelden (1–4%) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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