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:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Abnormality of intracranial pressure (HP:0012640)

..Starting node
..Increased intracranial pressure (HP:0002516)

Term ID:

2516

Name:

Increased intracranial pressure

Synonym:

Intracranial hypertension; Intracranial pressure elevation; Pseudotumor cerebri; Rise in pressure inside skull

Definition:

An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.

Comments:

Reference:

HP:0002516

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased intracranial pressure (HP:0012641)

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:0002516	HP:0002516	Increased intracranial pressure	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0002516	HP:0002516	Increased intracranial pressure	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0002516	HP:0002516	Increased intracranial pressure	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	132
HP:0002516	HP:0002516	Increased intracranial pressure	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0002516	HP:0002516	Increased intracranial pressure	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002516	HP:0002516	Increased intracranial pressure	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0002516	HP:0002516	Increased intracranial pressure	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0002516	HP:0002516	Increased intracranial pressure	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0002516	HP:0002516	Increased intracranial pressure	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	272
HP:0002516	HP:0002516	Increased intracranial pressure	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0002516	HP:0002516	Increased intracranial pressure	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002516	HP:0002516	Increased intracranial pressure	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0002516	HP:0002516	Increased intracranial pressure	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002516	HP:0002516	Increased intracranial pressure	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002516	HP:0002516	Increased intracranial pressure	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	HP:0040283 - Occasional	3
HP:0002516	HP:0002516	Increased intracranial pressure	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0002516	HP:0002516	Increased intracranial pressure	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002516	HP:0002516	Increased intracranial pressure	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0002516	HP:0002516	Increased intracranial pressure	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	12
HP:0002516	HP:0002516	Increased intracranial pressure	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0002516	HP:0002516	Increased intracranial pressure	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional	175
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0002516	HP:0002516	Increased intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0002516	HP:0002516	Increased intracranial pressure	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0002516	HP:0002516	Increased intracranial pressure	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0002516	HP:0002516	Increased intracranial pressure	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	16
HP:0002516	HP:0002516	Increased intracranial pressure	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002516	HP:0002516	Increased intracranial pressure	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002516	HP:0002516	Increased intracranial pressure	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0002516	HP:0002516	Increased intracranial pressure	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002516	HP:0002516	Increased intracranial pressure	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002516	HP:0002516	Increased intracranial pressure	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0002516	HP:0002516	Increased intracranial pressure	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0002516	HP:0002516	Increased intracranial pressure	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040281 - Very frequent	134
HP:0002516	HP:0002516	Increased intracranial pressure	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional	125
HP:0002516	HP:0002516	Increased intracranial pressure	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002516	HP:0002516	Increased intracranial pressure	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0002516	HP:0002516	Increased intracranial pressure	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0002516	HP:0002516	Increased intracranial pressure	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0002516	HP:0002516	Increased intracranial pressure	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0002516	HP:0002516	Increased intracranial pressure	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0002516	HP:0002516	Increased intracranial pressure	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0002516	HP:0002516	Increased intracranial pressure	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0002516	HP:0002516	Increased intracranial pressure	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0002516	HP:0002516	Increased intracranial pressure	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0002516	HP:0002516	Increased intracranial pressure	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0002516	HP:0002516	Increased intracranial pressure	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0002516	HP:0002516	Increased intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0002516	HP:0002516	Increased intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0002516	HP:0002516	Increased intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0002516	HP:0002516	Increased intracranial pressure	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0002516	HP:0002516	Increased intracranial pressure	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0002516	HP:0002516	Increased intracranial pressure	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002516	HP:0002516	Increased intracranial pressure	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0002516	HP:0002516	Increased intracranial pressure	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0002516	HP:0002516	Increased intracranial pressure	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0002516	HP:0002516	Increased intracranial pressure	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent	948
HP:0002516	HP:0002516	Increased intracranial pressure	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0002516	HP:0002516	Increased intracranial pressure	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0002516	HP:0002516	Increased intracranial pressure	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0002516	HP:0002516	Increased intracranial pressure	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0002516	HP:0002516	Increased intracranial pressure	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0002516	HP:0002516	Increased intracranial pressure	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0002516	HP:0002516	Increased intracranial pressure	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0002516	HP:0002516	Increased intracranial pressure	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0002516	HP:0002516	Increased intracranial pressure	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0002516	HP:0002516	Increased intracranial pressure	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0002516	HP:0002516	Increased intracranial pressure	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0002516	HP:0002516	Increased intracranial pressure	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002516	HP:0002516	Increased intracranial pressure	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0002516	HP:0002516	Increased intracranial pressure	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0002516	HP:0002516	Increased intracranial pressure	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0002516	HP:0002516	Increased intracranial pressure	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0002516	HP:0002516	Increased intracranial pressure	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002516	HP:0002516	Increased intracranial pressure	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0002516	HP:0002516	Increased intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	18
HP:0002516	HP:0002516	Increased intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0002516	HP:0002516	Increased intracranial pressure	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002516	HP:0002516	Increased intracranial pressure	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0002516	HP:0002516	Increased intracranial pressure	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	490
HP:0002516	HP:0002516	Increased intracranial pressure	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5

Genes (82) :AKT1 ALX4 ANTXR1 APC BAP1 BMPR1A BRAF C4A CASR CCM2 CCND1 CCR1 CSPP1 CTNNB1 CTSK DKK1 ELMO2 EPCAM ERAP1 ERF FAN1 FAS FGFR2 FGFR3 GALC GALK1 GNA11 HLA-B IFNGR1 IFT172 IL10 IL12A IL12A-AS1 IL23R IRF4 KIAA0586 KLLN KLRC4 KRAS KRIT1 L1CAM LRP5 MEFV MLH1 MLH3 MSH2 MSH6 NF2 NLRP3 PDCD10 PDE4D PDGFB PIK3CA PMS1 PMS2 PRF1 PRKAR1A PSAP PTEN RPS20 SDHB SDHC SDHD SEC23B SEMA4A SMARCB1 SMARCE1 SMO SNORD118 SOST STAT4 SUFU TCF12 TERT TGFBR2 TLR4 TRAF7 TWIST1 UBAC2 USF3 VHL ZIC1

Diseases (39) :ORPHA:201 ORPHA:2495 ORPHA:35093 ORPHA:2067 ORPHA:99818 ORPHA:440437 ORPHA:54595 ORPHA:117 ORPHA:428 ORPHA:221061 ORPHA:892 ORPHA:397715 ORPHA:763 ORPHA:268882 OMIM:606893 ORPHA:144 OMIM:600775 ORPHA:207 ORPHA:93259 ORPHA:93260 ORPHA:794 ORPHA:93262 ORPHA:35099 ORPHA:53271 ORPHA:206436 OMIM:230200 OMIM:619471 ORPHA:3452 ORPHA:2182 ORPHA:178377 ORPHA:1451 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:603553 ORPHA:65285 ORPHA:542310 OMIM:122860 OMIM:269500

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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