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:
Cognitive impairment (HP:0100543)

Parent Node:
Mental deterioration (HP:0001268)

..Starting node
..Progressive neurologic deterioration (HP:0002344)

Term ID:

2344

Name:

Progressive neurologic deterioration

Synonym:

Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms

Definition:

Comments:

Reference:

HP:0002344

Genes and Diseases:

Child Nodes:

........

Progressive language deterioration (HP:0007064)

........

Progressive psychomotor deterioration (HP:0007272)

........

Rapid neurologic deterioration (HP:0007307)

Sister Nodes:

Dementia (HP:0000726)

Motor deterioration (HP:0002333)

Psychomotor deterioration (HP:0002361)

Social and occupational deterioration (HP:0007086)

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:0002344	HP:0002344	Progressive neurologic deterioration	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1		518
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	160
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent	32
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.	3
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3		106
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	81
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2	HP:0040283 - Occasional	67
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency		80
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0002344	HP:0002344	Progressive neurologic deterioration	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0002344	HP:0007064	Progressive language deterioration	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002344	HP:0007064	Progressive language deterioration	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0002344	HP:0007064	Progressive language deterioration	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent	106
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent	7
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0002344	HP:0007272	Progressive psychomotor deterioration	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0002344	HP:0007307	Rapid neurologic deterioration	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0002344	HP:0007307	Rapid neurologic deterioration	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent	80

Genes (56) :ALDH18A1 ARSA ATP1A2 ATP1A3 BSCL2 CACNA1A CERS1 CNTNAP2 CTNS CYC1 CYP27A1 EPM2A ERCC6 ERCC8 GALC GBA1 GCH1 GLB1 GRN HEPACAM HEXB HIBCH HNF4A HSD17B10 IDUA ITM2B KARS1 KCTD7 LMNB1 LRPPRC MCOLN1 MICOS13 NAGLU NDUFA6 NHLRC1 PDGFRB PMPCA PSAP PTS QDPR RAB27A RNU4ATAC RRM2B SDHA SDHAF1 SDHB SDHD SLC13A3 SLC1A3 SLC39A14 SUMF1 SYNJ1 TIMMDC1 TINF2 TREX1 VCP

Diseases (55) :ORPHA:447757 ORPHA:309271 ORPHA:309263 ORPHA:2131 ORPHA:363400 OMIM:616230 ORPHA:163681 OMIM:610042 OMIM:219800 OMIM:615453 ORPHA:909 OMIM:254780 OMIM:214150 ORPHA:90324 ORPHA:206448 ORPHA:206436 OMIM:608013 OMIM:230900 OMIM:231000 OMIM:233910 OMIM:230600 OMIM:607485 OMIM:613925 OMIM:268800 ORPHA:88639 ORPHA:263455 OMIM:300438 OMIM:607014 OMIM:176500 OMIM:619196 ORPHA:263516 OMIM:169500 ORPHA:70472 OMIM:252650 OMIM:618329 OMIM:252920 OMIM:618253 OMIM:616592 ORPHA:1170 OMIM:611722 OMIM:261640 OMIM:261630 OMIM:607624 OMIM:210710 OMIM:612075 ORPHA:3208 OMIM:618384 OMIM:617013 ORPHA:585 OMIM:272200 OMIM:617389 OMIM:618251 OMIM:268130 ORPHA:247691 ORPHA:329478

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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