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Trait
Generalized brain degeneration
Clinical name: Global brain atrophy
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Summary
- Also called
- Diffuse brain atrophy, Generalised brain atrophy, Generalised brain degeneration, Generalised cerebral atrophy, Generalized brain atrophy, Generalized cerebral atrophy
- Body system
- Abnormality of the nervous system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/global-brain-atrophy.json"
page <- fromJSON(url)
page$trait$nameGeneralized brain degenerationHP:0002283
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Get my Genome Test79 genes linked to Generalized brain degeneration
Changes in these genes cause rare conditions in which Generalized brain degeneration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 1 condition |
| ARXaristaless related homeobox | Always | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Always | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| LYRM7LYR motif containing 7 | Always | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Always | In 1 condition |
| PLP1proteolipid protein 1 | Always | In 1 condition |
| PSAPprosaposin | Always | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Always | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Always | In 2 conditions |
| SNAPINSNAP associated protein | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| SNF8SNF8 subunit of ESCRT-II | Very often (80–99%) | In 2 conditions |
| TXN2thioredoxin 2 | Very often (80–99%) | In 2 conditions |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| CYLDCYLD lysine 63 deubiquitinase | Often (30–79%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Often (30–79%) | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Often (30–79%) | In 1 condition |
| NUP214nucleoporin 214 | Often (30–79%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Often (30–79%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Often (30–79%) | In 2 conditions |
| SNCAsynuclein alpha | Often (30–79%) | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Often (30–79%) | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Often (30–79%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 2 conditions |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Often (30–79%) | In 1 condition |
| TRA2Btransformer 2 beta homolog | Often (30–79%) | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
Show 39 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sometimes (5–29%) | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| ASLargininosuccinate lyase | Sometimes (5–29%) | In 1 condition |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Sometimes (5–29%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sometimes (5–29%) | In 1 condition |
| COPB1coat protein complex I subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| CYB5Acytochrome b5 type A | Sometimes (5–29%) | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| FUSFUS RNA binding protein | Sometimes (5–29%) | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| NAXENAD(P)HX epimerase | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PCDH19protocadherin 19 | Sometimes (5–29%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sometimes (5–29%) | In 1 condition |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| SQSTM1sequestosome 1 | Sometimes (5–29%) | In 1 condition |
| TARDBPTAR DNA binding protein | Sometimes (5–29%) | In 1 condition |
| TBK1TANK binding kinase 1 | Sometimes (5–29%) | In 1 condition |
| TPK1thiamin pyrophosphokinase 1 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Not recorded | In 1 condition |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Not recorded | In 1 condition |
| PANK2pantothenate kinase 2 | Not recorded | In 1 condition |
| RNF113Aring finger protein 113A | Not recorded | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| WDR81WD repeat domain 81 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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