Human Phenotype Ontology 
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Atrophy/Degeneration affecting the central nervous system (HP:0007367)help
Grandparent Node:
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obsolete Brain very small (HP:0001322)help
Parent Node:
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Aplasia/Hypoplasia involving the central nervous system (HP:0002977)help
Parent Node:
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Brain atrophy (HP:0012444)help
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Global brain atrophy (HP:0002283)help
Term ID: 2283
Name: Global brain atrophy
Synonym: Diffuse brain atrophy; Generalised brain atrophy; Generalised brain degeneration; Generalised cerebral atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy
Definition: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Comments:
Reference: HP:0002283
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtrophy/Degeneration affecting the cerebrum (HP:0007369) help
..expandAtrophy/Degeneration involving the caudate nucleus (HP:0007374) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002283HP:0002283Global brain atrophy0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040282 - Frequent135
HP:0002283HP:0002283Global brain atrophy0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0002283HP:0002283Global brain atrophy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0002283HP:0002283Global brain atrophy0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0002283HP:0002283Global brain atrophy0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0002283HP:0002283Global brain atrophy0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0002283HP:0002283Global brain atrophy0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002283HP:0002283Global brain atrophy0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0002283HP:0002283Global brain atrophy0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0002283HP:0002283Global brain atrophy0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0002283HP:0002283Global brain atrophy0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0002283HP:0002283Global brain atrophy0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002283HP:0002283Global brain atrophy0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0002283HP:0002283Global brain atrophy0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0002283HP:0002283Global brain atrophy0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0002283HP:0002283Global brain atrophy0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0002283HP:0002283Global brain atrophy0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0002283HP:0002283Global brain atrophy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002283HP:0002283Global brain atrophy0DOHH CL E G H8347528662OMIM:620066
HP:0002283HP:0002283Global brain atrophy0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0002283HP:0002283Global brain atrophy0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002283HP:0002283Global brain atrophy0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0002283HP:0002283Global brain atrophy0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0002283HP:0002283Global brain atrophy0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0002283HP:0002283Global brain atrophy0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0002283HP:0002283Global brain atrophy0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002283HP:0002283Global brain atrophy0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0002283HP:0002283Global brain atrophy0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002283HP:0002283Global brain atrophy0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0002283HP:0002283Global brain atrophy0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0002283HP:0002283Global brain atrophy0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0002283HP:0002283Global brain atrophy0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0002283HP:0002283Global brain atrophy0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002283HP:0002283Global brain atrophy0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002283HP:0002283Global brain atrophy0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0002283HP:0002283Global brain atrophy0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002283HP:0002283Global brain atrophy0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002283HP:0002283Global brain atrophy0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002283HP:0002283Global brain atrophy0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0002283HP:0002283Global brain atrophy0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0002283HP:0002283Global brain atrophy0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002283HP:0002283Global brain atrophy0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002283HP:0002283Global brain atrophy0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0002283HP:0002283Global brain atrophy0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0002283HP:0002283Global brain atrophy0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0002283HP:0002283Global brain atrophy0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0002283HP:0002283Global brain atrophy0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002283HP:0002283Global brain atrophy0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0002283HP:0002283Global brain atrophy0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0002283HP:0002283Global brain atrophy0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0002283HP:0002283Global brain atrophy0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0002283HP:0002283Global brain atrophy0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0002283HP:0002283Global brain atrophy0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0002283HP:0002283Global brain atrophy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002283HP:0002283Global brain atrophy0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0002283HP:0002283Global brain atrophy0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0002283HP:0002283Global brain atrophy0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0002283HP:0002283Global brain atrophy0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0002283HP:0002283Global brain atrophy0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002283HP:0002283Global brain atrophy0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0002283HP:0002283Global brain atrophy0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0002283HP:0002283Global brain atrophy0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0002283HP:0002283Global brain atrophy0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0002283HP:0002283Global brain atrophy0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0002283HP:0002283Global brain atrophy0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002283HP:0002283Global brain atrophy0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0002283HP:0002283Global brain atrophy0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0002283HP:0002283Global brain atrophy0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0002283HP:0002283Global brain atrophy0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002283HP:0002283Global brain atrophy0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0002283HP:0002283Global brain atrophy0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002283HP:0002283Global brain atrophy0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27


Genes (70) :ABCD1 ACTL6B AGTPBP1 AIMP1 ALG13 ALG9 ARX C9ORF72 CARS2 CHCHD10 CNPY3 COPB1 CSF1R CYB5A CYB5R3 CYLD CYP27A1 DHCR7 DOHH DPAGT1 ERCC6 FUS GABRA1 GABRG2 GFM1 GNB1 L2HGDH LYRM7 NAXE NDUFAF3 NDUFB8 NDUFS2 OTUD5 PANK2 PCDH19 PIGT PLA2G6 PLP1 PNPO PRNP PSAP PUF60 PYCR2 RAB3GAP2 RNF113A SATB1 SCN1A SCN1B SCN2A SCN9A SCO2 SMG9 SON SPATA5 SQSTM1 ST3GAL5 SURF1 TANGO2 TARDBP TBCK TBK1 TDP1 TIMM8A TPK1 TXN2 UNC80 VARS1 VCP WARS2 WDR81

Diseases (55) :ORPHA:139396 OMIM:618470 OMIM:618276 OMIM:260600 ORPHA:324422 OMIM:608776 OMIM:308350 ORPHA:275872 OMIM:616672 OMIM:617929 OMIM:619255 OMIM:221820 ORPHA:621 OMIM:619132 ORPHA:909 OMIM:270400 OMIM:620066 ORPHA:86309 OMIM:278800 ORPHA:33069 OMIM:609060 OMIM:616973 OMIM:236792 OMIM:615838 OMIM:617186 ORPHA:70474 OMIM:301056 OMIM:234200 ORPHA:369837 OMIM:612953 OMIM:312080 ORPHA:79096 OMIM:603218 ORPHA:282166 OMIM:611722 ORPHA:508488 ORPHA:481152 OMIM:614225 OMIM:300953 OMIM:619229 OMIM:616920 ORPHA:500150 ORPHA:457351 OMIM:609056 ORPHA:480864 ORPHA:488632 ORPHA:94124 ORPHA:52368 OMIM:614458 ORPHA:478029 OMIM:616811 OMIM:616801 OMIM:617802 OMIM:619738 OMIM:610185
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.