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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

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Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Retinal Diseases (D012164)
Parent Node: Vascular Diseases (D014652)
..Starting node ..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Child Nodes:
Sister Nodes:
..Aneurysm (D000783) 43
..Angiodysplasia (D016888) 2
..Angioedema (D000799) 5
..Angiomatosis (D000798) 10
..Aortic Diseases (D001018) 25
..Arterial Dissection with Lentiginosis (C563937)
..Arterial Occlusive Diseases (D001157) 39
..Arteriovenous Malformations (D001165) 12
..Arteritis (D001167) 7
..Calcification of Joints and Arteries (C565891)
..Capillary Leak Syndrome (D019559) 1
..CAROTID INTIMAL MEDIAL THICKNESS 2 (OMIM:608447)
..Cerebrovascular Disorders (D002561) 108
..Colitis, Ischemic (D017091)
..Compartment Syndromes (D003161) 3
..Coronary Artery Dissection, Spontaneous (C565153)
..Diabetic Angiopathies (D003925) 9
..Embolism and Thrombosis (D016769) 34
..Hand-Arm Vibration Syndrome (D053421)
..Hemorrhoids (D006484)
..Hemostatic Disorders (D020141) 48
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hyperemia (D006940)
..Hypertension (D006973) 28
..Hypotension (D007022) 5
..Mesenteric Ischemia (D065666)
..Myocardial Ischemia (D017202) 28
..Optic Neuropathy, Ischemic (D018917) 1
..Pancytopenia and Occlusive Vascular Disease (C566836)
..Peripheral Vascular Diseases (D016491) 17
..Prehypertension (D058246)
..Pulmonary Veno-Occlusive Disease (D011668)
..Reperfusion Injury (D015427) 2
..Retinal Vein Occlusion (D012170)
..Scimitar Syndrome (D012587) 1
..Spinal Cord Vascular Diseases (D020758) 3
..Splenic Infarction (D013159)
..Superior Vena Cava Syndrome (D013479)
..Telangiectasis (D013684) 25
..Thoracic Outlet Syndrome (D013901) 2
..Varicocele (D014646)
..Varicose Veins (D014648) 2
..Vascular Fistula (D016157) 7
..Vascular Hyalinosis (C564750)
..Vascular Neoplasms (D019043)
..Vascular System Injuries (D057772)
..Vasculitis (D014657) 43
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vasoplegia (D056987)
..Venous Insufficiency (D014689) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11542

Name:

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Definition:

Alternative IDs:

OMIM:192315

ParentIDs:

MESH:D012164|MESH:D014652|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C566007 |C10.228.140.695.625/C566007 |C10.314.400/C566007 |C10.574.500.494/C566007 |C11.768/C566007 |C14.907/C566007 |C16.320.400.367/C566007 |C16.320.565.189.362/C566007 |C18.452.132.100.362/C566007 |C18.452.648.189.362/C566007

Synonyms:

Cerebroretinal Vasculopathy, Hereditary |CRV |Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena |RVCL

Slim Mappings:

Cardiovascular disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C566007
MeSH: C566007
OMIM: 192315;

Genes: TREX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002518	Abnormal periventricular white matter morphology
4	HP:0002186	Apraxia
5	HP:0000708	Behavioral abnormality
6	HP:0007009	Central nervous system degeneration
7	HP:0000726	Dementia
8	HP:0001260	Dysarthria
9	HP:0003565	Elevated erythrocyte sedimentation rate
10	HP:0002910	Elevated hepatic transaminase
11	HP:0000790	Hematuria
12	HP:0001269	Hemiparesis
13	HP:0009763	Limb pain
14	HP:0002395	Lower limb hyperreflexia
15	HP:0040049	Macular edema
16	HP:0001413	Micronodular cirrhosis	HP:0040283
17	HP:0002076	Migraine
18	HP:0003676	Progressive
19	HP:0007017	Progressive forgetfulness
20	HP:0000529	Progressive visual loss
21	HP:0000093	Proteinuria
22	HP:0200030	Punctate vasculitis skin lesions
23	HP:0030880	Raynaud phenomenon
24	HP:0001147	Retinal exudate
25	HP:0000573	Retinal hemorrhage
26	HP:0001250	Seizure
27	HP:0001297	Stroke
28	HP:0001009	Telangiectasia
29	HP:0200029	Vasculitis in the skin
30	HP:0000505	Visual impairment

Disease Causing ClinVar Variants