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:
Morphological abnormality of the pyramidal tract (HP:0002062)

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

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

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

Term ID:

7372

Name:

Atrophy/Degeneration involving the corticospinal tracts

Synonym:

Definition:

Comments:

Reference:

HP:0007372

Genes and Diseases:

Child Nodes:

........

Degeneration of the lateral corticospinal tracts (HP:0002314)

........

Corticospinal tract atrophy (HP:0007117)

Sister Nodes:

Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

Corticospinal tract pallor (HP:0008361)

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:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0007372	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0007372	HP:0007117	Corticospinal tract atrophy	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0007372	HP:0007117	Corticospinal tract atrophy	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0007372	HP:0002314	Degeneration of the lateral corticospinal tracts	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83

Genes (45) :ABCD1 ATL1 ATP6 BAZ1B BCL7B BUD23 C9ORF72 CHCHD10 CLIP2 CPT1C DCTN1 DNAJC30 EIF4H ELN FKBP6 FUS GTF2I GTF2IRD1 GTF2IRD2 KPNA3 LIMK1 METTL27 MLXIPL NCF1 NEFH NIPA1 PLP1 PRPH RFC2 RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 STX1A TARDBP TBK1 TBL2 TMEM270 UBAP1 VCP VPS37D WASHC5

Diseases (18) :ORPHA:139399 OMIM:182600 ORPHA:644 OMIM:551500 ORPHA:904 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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