Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Morphological abnormality of the corticospinal tract (HP:0002492)

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

..Starting node
..Degeneration of the lateral corticospinal tracts (HP:0002314)

Term ID:

2314

Name:

Degeneration of the lateral corticospinal tracts

Synonym:

Degeneration of lateral corticospinal tracts

Definition:

Deterioration of the tissues of the lateral corticospinal tracts.

Comments:

Reference:

HP:0002314

Genes and Diseases:

Child Nodes:

Sister Nodes:

Corticospinal tract atrophy (HP:0007117)

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:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0002314	HP:0002314	Degeneration of the lateral corticospinal tracts	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83

Genes (23) :ATL1 C9ORF72 CHCHD10 CPT1C DCTN1 FUS KPNA3 NEFH NIPA1 PLP1 PRPH RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 TARDBP TBK1 UBAP1 VCP WASHC5

Diseases (14) :OMIM:182600 ORPHA:275872 ORPHA:444099 OMIM:105400 ORPHA:171612 OMIM:600363 OMIM:312920 ORPHA:100993 ORPHA:171863 OMIM:182601 OMIM:604360 OMIM:607259 ORPHA:100989 OMIM:603563

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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