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:
Abnormal cerebral vascular morphology (HP:0100659)

Parent Node:
Cerebral ischemia (HP:0002637)

Parent Node:
Stroke (HP:0001297)

..Starting node
..Ischemic stroke (HP:0002140)

Term ID:

2140

Name:

Ischemic stroke

Synonym:

Ischaemic stroke

Definition:

Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.

Comments:

Reference:

HP:0002140

Genes and Diseases:

Child Nodes:

Sister Nodes:

Stroke-like episode (HP:0002401)

Transient ischemic attack (HP:0002326)

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:0002140	HP:0002140	Ischemic stroke	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002140	HP:0002140	Ischemic stroke	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002140	HP:0002140	Ischemic stroke	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0002140	HP:0002140	Ischemic stroke	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0002140	HP:0002140	Ischemic stroke	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0002140	HP:0002140	Ischemic stroke	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002140	HP:0002140	Ischemic stroke	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002140	HP:0002140	Ischemic stroke	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002140	HP:0002140	Ischemic stroke	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002140	HP:0002140	Ischemic stroke	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002140	HP:0002140	Ischemic stroke	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0002140	HP:0002140	Ischemic stroke	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002140	HP:0002140	Ischemic stroke	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002140	HP:0002140	Ischemic stroke	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0002140	HP:0002140	Ischemic stroke	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0002140	HP:0002140	Ischemic stroke	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002140	HP:0002140	Ischemic stroke	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002140	HP:0002140	Ischemic stroke	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002140	HP:0002140	Ischemic stroke	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002140	HP:0002140	Ischemic stroke	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002140	HP:0002140	Ischemic stroke	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002140	HP:0002140	Ischemic stroke	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0002140	HP:0002140	Ischemic stroke	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0002140	HP:0002140	Ischemic stroke	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002140	HP:0002140	Ischemic stroke	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002140	HP:0002140	Ischemic stroke	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0002140	HP:0002140	Ischemic stroke	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0002140	HP:0002140	Ischemic stroke	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002140	HP:0002140	Ischemic stroke	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002140	HP:0002140	Ischemic stroke	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002140	HP:0002140	Ischemic stroke	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002140	HP:0002140	Ischemic stroke	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002140	HP:0002140	Ischemic stroke	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002140	HP:0002140	Ischemic stroke	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002140	HP:0002140	Ischemic stroke	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002140	HP:0002140	Ischemic stroke	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002140	HP:0032325	Lacunar stroke	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002140	HP:0032325	Lacunar stroke	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0002140	HP:0032325	Lacunar stroke	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002140	HP:0032325	Lacunar stroke	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040281 - Very frequent	144
HP:0002140	HP:0032325	Lacunar stroke	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002140	HP:0032570	Pontine ischemic lacunes	2	CL E G H

Genes (34) :ACTA2 ACVRL1 ADA2 BRCC3 COL4A1 ELN ENG FBN1 FOXE3 GNB2 GUCY1A1 HEY2 HTRA1 JAK2 LOX MAT2A MFAP5 MYH11 MYLK NOTCH3 NPPA PIK3C2A PRKG1 SCN5A SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SON TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (18) :ORPHA:91387 OMIM:600376 OMIM:182410 ORPHA:280679 OMIM:175780 OMIM:187300 OMIM:619503 OMIM:615750 OMIM:600142 OMIM:616779 OMIM:614521 OMIM:125310 ORPHA:136 ORPHA:1344 OMIM:618440 OMIM:208050 ORPHA:1830 ORPHA:500150

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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