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Træk
Abnormal shape of brain
Klinisk navn: Abnormal brain morphology
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Resumé
- Også kaldet
- Abnormality of the brain, Abnormality of brain morphology
- Kropssystem
- Abnormality of the nervous system
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-brain-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormal shape of brainHP:0012443
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Læs de gener, der er knyttet til Abnormal shape of brain, og resten af dit genom, med én test.
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Bestil min Genome Test32 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.
- Congenital Muscular DystrophiesReads 6 of these genesFKRPGMPPBPOMGNT1POMKPOMT1POMT2About this report →
- Beaulieu-Boycott-Innes Syndrome (THOC6)Reads 1 of these genesTHOC6About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
Show 28 more reports
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- TRAPPC9-Related Intellectual DisabilityReads 1 of these genesTRAPPC9About this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Congenital Disorders of GlycosylationReads 8 of these genesFKRPGMPPBMAN1B1POMGNT1POMT1POMT2About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesFKRPGMPPBPOMGNT1About this report →
- Intellectual DisabilityReads 7 of these genesTRAPPC9ADNPAHDC1MAN1B1PACS1PRMT7About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMTHFRMMACHCAbout this report →
- Systemic Lupus ErythematosusReads 1 of these genesUNC93B1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Frontotemporal DementiaReads 1 of these genesTBK1About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMACHCAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesCPT2About this report →
- Autoimmune DiseaseReads 1 of these genesUNC93B1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesAFG2AAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesMTHFRPDHA1MMACHCAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesCNOT1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesTBK1About this report →
- Osteogenesis ImperfectaReads 1 of these genesMBTPS2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPARTAbout this report →
- Leigh SyndromeReads 1 of these genesPDHA1About this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesTBK1SPARTAbout this report →
- Epilepsy (Full Panel)Reads 1 of these genesALG13About this report →
Læs de gener, der er knyttet til Abnormal shape of brain, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test39 gener knyttet til Abnormal shape of brain
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal shape of brain 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 |
|---|---|---|
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TICAM1TIR domain containing adaptor molecule 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Meget ofte (80–99 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Meget ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ofte (30–79 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| VANGL2VANGL planar cell polarity protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | 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.
Snævrere træk
- Brain degeneration202 gener
- Holoprosencephaly59 gener
- Abnormal shape of brainstem52 gener
- Abnormality of the cerebral blood vessels51 gener
- Abnormal shape of midbrain18 gener
- Brain neoplasm14 gener
- Iron accumulation in brain9 gener
- Abnormal pituitary gland morphology4 gener
- Kernicterus2 gener
- Abnormal cerebral ventricle morphology
- Abnormal pineal morphology
- Abnormal shape of forebrain
- Abnormal shape of hindbrain
Bredere træk
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 2026.10.18-8b139e39.
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