Tratto
Generalized brain degeneration
Nome clinico: Global brain atrophy
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Riepilogo
- Detto anche
- Diffuse brain atrophy, Generalised brain atrophy, Generalised brain degeneration, Generalised cerebral atrophy, Generalized brain atrophy, Generalized cerebral atrophy
- Sistema corporeo
- Abnormality of the nervous system
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Ottieni il mio Genome Test49 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.
- Frontotemporal DementiaReads 5 of these genesCYLDCHCHD10SQSTM1TBK1VCPAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 7 of these genesCYLDCHCHD10FUSSQSTM1TARDBPTBK1About this report →
- Inherited Neurodegenerative DisordersReads 25 of these genesCSF1RPLP1PSAPABCD1CYLDPLA2G6About this report →
- Epilepsy (Full Panel)Reads 14 of these genesARXSCN2ASNF8PNPOACTL6BALG13About this report →
Show 45 more reports
- Asparagine Synthetase DeficiencyReads 1 of these genesASNSAbout this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- CYLD Cutaneous SyndromeReads 1 of these genesCYLDAbout this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- VARS1-Related Neurodevelopmental DisorderReads 1 of these genesVARS1About this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesCYB5ACYB5R3About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesTBCKTRA2BAFG2ARNU4-2About this report →
- Other Inherited LeukodystrophiesReads 7 of these genesCSF1RPLP1PSAPABCD1CYP27A1PYCR2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 11 of these genesFBXL4PSAPGFM1PLA2G6SUCLA2TDP1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 2 of these genesPLA2G6PANK2About this report →
- Congenital Disorders of GlycosylationReads 6 of these genesALG9ST3GAL5ALG13CADDPAGT1PIGTAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 3 of these genesPLP1PYCR2AIMP1About this report →
- Urea Cycle DisorderReads 2 of these genesMCCC1ASLAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Parkinson DiseaseReads 2 of these genesPLA2G6SNCAAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesCSF1RAbout this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesTPK1About this report →
- Leigh SyndromeReads 4 of these genesFBXL4GFM1SUCLA2TPK1About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesST3GAL5PIGTAbout this report →
- Primary Mitochondrial DiseaseReads 5 of these genesFBXL4LYRM7CARS2GFM1SUCLA2About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesARXRAB3GAP2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesTDP1CYP27A1WDR81About this report →
- Classic Organic AciduriasReads 1 of these genesMCCC1About this report →
- DNA Repair DiseaseReads 2 of these genesERCC6TDP1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Intellectual DisabilityReads 4 of these genesSCN2AGNB1PCDH19PUF60About this report →
- Lysosomal Storage DiseaseReads 2 of these genesPSAPCYP27A1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesPLP1ABCD1About this report →
- Distal MyopathiesReads 1 of these genesVCPAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesSCN9AAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesDPAGT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP2About this report →
- Spinal Muscular AtrophyReads 1 of these genesCHCHD10About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesWARS2About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesVCPAbout this report →
Leggi i geni collegati a Generalized brain degeneration e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test79 geni collegati a Generalized brain degeneration
Alterazioni in questi geni causano malattie rare in cui si osserva Generalized brain degeneration. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sempre | In 1 condizione |
| ARXaristaless related homeobox | Sempre | In 1 condizione |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Sempre | In 1 condizione |
| CSF1Rcolony stimulating factor 1 receptor | Sempre | In 1 condizione |
| FBXL4F-box and leucine rich repeat protein 4 | Sempre | In 1 condizione |
| GTF3C3general transcription factor IIIC subunit 3 | Sempre | In 1 condizione |
| LYRM7LYR motif containing 7 | Sempre | In 1 condizione |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Sempre | In 1 condizione |
| PLP1proteolipid protein 1 | Sempre | In 1 condizione |
| PSAPprosaposin | Sempre | In 1 condizione |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Sempre | In 1 condizione |
| RRP12ribosomal RNA processing 12 homolog | Sempre | In 1 condizione |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sempre | In 2 condizioni |
| SNAPINSNAP associated protein | Sempre | In 1 condizione |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sempre | In 1 condizione |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Sempre | In 1 condizione |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sempre | In 1 condizione |
| SNF8SNF8 subunit of ESCRT-II | Molto spesso (80–99%) | In 2 condizioni |
| TXN2thioredoxin 2 | Molto spesso (80–99%) | In 2 condizioni |
| ABCD1ATP binding cassette subfamily D member 1 | Spesso (30–79%) | In 1 condizione |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Spesso (30–79%) | In 1 condizione |
| CYLDCYLD lysine 63 deubiquitinase | Spesso (30–79%) | In 1 condizione |
| DOHHdeoxyhypusine hydroxylase | Spesso (30–79%) | In 1 condizione |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Spesso (30–79%) | In 1 condizione |
| GFM1G elongation factor mitochondrial 1 | Spesso (30–79%) | In 1 condizione |
| JKAMPJNK1/MAPK8 associated membrane protein | Spesso (30–79%) | In 1 condizione |
| NUP214nucleoporin 214 | Spesso (30–79%) | In 1 condizione |
| PLA2G6phospholipase A2 group VI | Spesso (30–79%) | In 1 condizione |
| PNPOpyridoxamine 5'-phosphate oxidase | Spesso (30–79%) | In 1 condizione |
| PRNPprion protein (Kanno blood group) | Spesso (30–79%) | In 2 condizioni |
| SNCAsynuclein alpha | Spesso (30–79%) | In 1 condizione |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Spesso (30–79%) | In 1 condizione |
| TANGO2transport and golgi organization 2 homolog | Spesso (30–79%) | In 1 condizione |
| TBCKTBC1 domain containing kinase | Spesso (30–79%) | In 2 condizioni |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Spesso (30–79%) | In 1 condizione |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Spesso (30–79%) | In 1 condizione |
| TRA2Btransformer 2 beta homolog | Spesso (30–79%) | In 1 condizione |
| VARS1valyl-tRNA synthetase 1 | Spesso (30–79%) | In 1 condizione |
| ACTL6Bactin like 6B | A volte (5–29%) | In 1 condizione |
| AFG2AAAA ATPase AFG2A | A volte (5–29%) | In 1 condizione |
Mostra altri 39 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | A volte (5–29%) | In 1 condizione |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | A volte (5–29%) | In 1 condizione |
| ASLargininosuccinate lyase | A volte (5–29%) | In 1 condizione |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | A volte (5–29%) | In 1 condizione |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | A volte (5–29%) | In 1 condizione |
| COPB1coat protein complex I subunit beta 1 | A volte (5–29%) | In 1 condizione |
| CYB5Acytochrome b5 type A | A volte (5–29%) | In 1 condizione |
| CYB5R3cytochrome b5 reductase 3 | A volte (5–29%) | In 1 condizione |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | A volte (5–29%) | In 1 condizione |
| DHCR77-dehydrocholesterol reductase | A volte (5–29%) | In 1 condizione |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | A volte (5–29%) | In 1 condizione |
| FUSFUS RNA binding protein | A volte (5–29%) | In 1 condizione |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | A volte (5–29%) | In 1 condizione |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | A volte (5–29%) | In 1 condizione |
| GNB1G protein subunit beta 1 | A volte (5–29%) | In 1 condizione |
| NAXENAD(P)HX epimerase | A volte (5–29%) | In 1 condizione |
| OTUD5OTU deubiquitinase 5 | A volte (5–29%) | In 1 condizione |
| PCDH19protocadherin 19 | A volte (5–29%) | In 1 condizione |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | A volte (5–29%) | In 1 condizione |
| PUF60poly(U) binding splicing factor 60 | A volte (5–29%) | In 1 condizione |
| PYCR2pyrroline-5-carboxylate reductase 2 | A volte (5–29%) | In 1 condizione |
| SATB1SATB homeobox 1 | A volte (5–29%) | In 1 condizione |
| SCN1Asodium voltage-gated channel alpha subunit 1 | A volte (5–29%) | In 1 condizione |
| SCN1Bsodium voltage-gated channel beta subunit 1 | A volte (5–29%) | In 1 condizione |
| SCN9Asodium voltage-gated channel alpha subunit 9 | A volte (5–29%) | In 1 condizione |
| SONSON DNA and RNA binding protein | A volte (5–29%) | In 1 condizione |
| SQSTM1sequestosome 1 | A volte (5–29%) | In 1 condizione |
| TARDBPTAR DNA binding protein | A volte (5–29%) | In 1 condizione |
| TBK1TANK binding kinase 1 | A volte (5–29%) | In 1 condizione |
| TPK1thiamin pyrophosphokinase 1 | A volte (5–29%) | In 1 condizione |
| VCPvalosin containing protein | A volte (5–29%) | In 1 condizione |
| RNU4-2RNA, U4 small nuclear 2 | Raramente (1–4%) | In 1 condizione |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Non registrato | In 1 condizione |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Non registrato | In 1 condizione |
| PANK2pantothenate kinase 2 | Non registrato | In 1 condizione |
| RNF113Aring finger protein 113A | Non registrato | In 1 condizione |
| SMG9SMG9 nonsense mediated mRNA decay factor | Non registrato | In 1 condizione |
| UNC80unc-80 subunit of NALCN channel complex | Non registrato | In 1 condizione |
| WDR81WD repeat domain 81 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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