Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

..Starting node
..Neuronal loss in central nervous system (HP:0002529)

Term ID:

2529

Name:

Neuronal loss in central nervous system

Synonym:

Loss of brain cells; Neuronal loss; Neuronal loss in CNS

Definition:

Comments:

Reference:

HP:0002529

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophy/Degeneration affecting the brainstem (HP:0007366)

Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Brain atrophy (HP:0012444)

Central nervous system degeneration (HP:0007009)

Increased cerebral lipofuscin (HP:0011813)

Motor neuron atrophy (HP:0007373)

Neurodegeneration (HP:0002180)

Senile plaques (HP:0100256)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.	105
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.	28
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent	93
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0002529	HP:0002529	Neuronal loss in central nervous system	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1

Genes (38) :ADH1C ATXN2 ATXN8OS BRAT1 BSCL2 C9ORF72 CHMP2B CSF1R CTSD DNMT1 FIG4 FUS GBA1 GLUD2 GRN HTT KCNT1 MAPT NARS2 NPC1 NR4A2 PDYN PIGA PLA2G6 POLG PRNP PSAP PSEN1 SCO2 SERPINI1 SLC9A6 SNCAIP TBCD TBP TRNT VAC14 VAPB ZNHIT3

Diseases (35) :OMIM:168600 OMIM:614498 OMIM:615924 ORPHA:363400 OMIM:105550 OMIM:600795 OMIM:221820 OMIM:610127 ORPHA:314404 ORPHA:3472 OMIM:608030 OMIM:607485 OMIM:143100 OMIM:614959 OMIM:600274 OMIM:172700 OMIM:601104 OMIM:616239 OMIM:257220 OMIM:610245 OMIM:300868 OMIM:256600 OMIM:203700 OMIM:600072 ORPHA:282166 OMIM:611721 OMIM:604377 OMIM:604218 ORPHA:85278 OMIM:300243 OMIM:617193 OMIM:607136 ORPHA:98759 OMIM:608627 OMIM:260565

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

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