Human Phenotype Ontology 
Grandparent Node:
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Atrophy/Degeneration affecting the cerebrum (HP:0007369)help
Parent Node:
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Cerebral atrophy (HP:0002059)help
..Starting node
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Diffuse cerebral atrophy (HP:0002506)help
Term ID: 2506
Name: Diffuse cerebral atrophy
Synonym: Cerebral atrophy, diffuse
Definition: Diffuse unlocalised atrophy affecting the cerebrum.
Comments:
Reference: HP:0002506
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebral cortical atrophy (HP:0002120) help
..expandFrontotemporal cerebral atrophy (HP:0006892) help
..expandGeneralized cerebral atrophy/hypoplasia (HP:0007058) 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:0002506HP:0002506Diffuse cerebral atrophy0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002506HP:0002506Diffuse cerebral atrophy0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0002506HP:0002506Diffuse cerebral atrophy0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0002506HP:0002506Diffuse cerebral atrophy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0002506HP:0002506Diffuse cerebral atrophy0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0002506HP:0002506Diffuse cerebral atrophy0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002506HP:0002506Diffuse cerebral atrophy0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002506HP:0002506Diffuse cerebral atrophy0COG2 CL E G H227966546ORPHA:435934COG2-CDGHP:0040281 - Very frequent2
HP:0002506HP:0002506Diffuse cerebral atrophy0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0002506HP:0002506Diffuse cerebral atrophy0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0002506HP:0002506Diffuse cerebral atrophy0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002506HP:0002506Diffuse cerebral atrophy0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0002506HP:0002506Diffuse cerebral atrophy0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0002506HP:0002506Diffuse cerebral atrophy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002506HP:0002506Diffuse cerebral atrophy0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002506HP:0002506Diffuse cerebral atrophy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0002506HP:0002506Diffuse cerebral atrophy0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002506HP:0002506Diffuse cerebral atrophy0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0002506HP:0002506Diffuse cerebral atrophy0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0002506HP:0002506Diffuse cerebral atrophy0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002506HP:0002506Diffuse cerebral atrophy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002506HP:0002506Diffuse cerebral atrophy0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0002506HP:0002506Diffuse cerebral atrophy0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0002506HP:0002506Diffuse cerebral atrophy0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0002506HP:0002506Diffuse cerebral atrophy0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002506HP:0002506Diffuse cerebral atrophy0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002506HP:0002506Diffuse cerebral atrophy0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0002506HP:0002506Diffuse cerebral atrophy0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002506HP:0002506Diffuse cerebral atrophy0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002506HP:0002506Diffuse cerebral atrophy0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002506HP:0002506Diffuse cerebral atrophy0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002506HP:0002506Diffuse cerebral atrophy0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0002506HP:0002506Diffuse cerebral atrophy0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0002506HP:0002506Diffuse cerebral atrophy0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002506HP:0002506Diffuse cerebral atrophy0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002506HP:0002506Diffuse cerebral atrophy0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002506HP:0002506Diffuse cerebral atrophy0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0002506HP:0002506Diffuse cerebral atrophy0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002506HP:0002506Diffuse cerebral atrophy0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0002506HP:0002506Diffuse cerebral atrophy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002506HP:0002506Diffuse cerebral atrophy0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0002506HP:0002506Diffuse cerebral atrophy0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002506HP:0002506Diffuse cerebral atrophy0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002506HP:0002506Diffuse cerebral atrophy0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002506HP:0002506Diffuse cerebral atrophy0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002506HP:0002506Diffuse cerebral atrophy0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0002506HP:0002506Diffuse cerebral atrophy0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002506HP:0002506Diffuse cerebral atrophy0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002506HP:0002506Diffuse cerebral atrophy0TIAM1 CL E G H707411805OMIM:6199082
HP:0002506HP:0002506Diffuse cerebral atrophy0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0002506HP:0002506Diffuse cerebral atrophy0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002506HP:0002506Diffuse cerebral atrophy0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002506HP:0002506Diffuse cerebral atrophy0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002506HP:0002506Diffuse cerebral atrophy0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2


Genes (51) :ARX ATP13A2 ATP6AP2 BTD CARS2 CASK CDKL5 COG2 COG5 COQ2 CTSF DCDC2 DHCR7 DMXL2 DNM1L ERCC6 FARS2 FDXR FMR1 GALC GLB1 GNAO1 GRIN1 GRIN2A GRM7 HSD17B10 HTRA1 KCNA1 MED17 MOCS2 NEUROD2 PIGP PIGQ PMPCA PNKP PRKAR1B PSAP RARS1 SCN1B SCN2A SIK1 SLC25A22 TBC1D24 TBCD TBP TIAM1 TMEM67 TRIM8 UQCRC1 VPS16 WARS2

Diseases (36) :ORPHA:1934 ORPHA:314632 ORPHA:363654 OMIM:253260 ORPHA:477774 ORPHA:435934 OMIM:617395 ORPHA:263487 OMIM:607426 OMIM:615362 ORPHA:84081 OMIM:270400 ORPHA:330050 OMIM:214150 OMIM:614946 ORPHA:543470 OMIM:300623 ORPHA:206436 OMIM:245200 ORPHA:79255 OMIM:230650 ORPHA:289266 ORPHA:391428 ORPHA:199354 OMIM:613668 OMIM:252160 ORPHA:1170 ORPHA:412066 ORPHA:438114 ORPHA:352596 OMIM:617193 OMIM:607136 OMIM:619908 OMIM:619279 OMIM:619291 OMIM:617710
 

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