Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
expand
Abnormality of the vasculature of the eye (HP:0008047)help
Parent Node:
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Abnormal retinal vascular morphology (HP:0008046)help
..Starting node
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Retinal vascular tortuosity (HP:0012841)help
Term ID: 12841
Name: Retinal vascular tortuosity
Synonym: Tortuous retinal vessels
Definition: The presence of an increased number of twists and turns of the retinal blood vessels.
Comments:
Reference: HP:0012841
Genes and Diseases:
 
       Child Nodes:
........expandRetinal arterial tortuosity (HP:0000631) help
................... HP:0007768 Central retinal vessel vascular tortuosity
........expandRetinal arteriolar tortuosity (HP:0001136) help

 Sister Nodes: 
..expandAbnormal distribution of retinal arterioles and venules (HP:0007815) help
..expandAbnormal retinal artery morphology (HP:0000630) help
..expandAttenuation of retinal blood vessels (HP:0007843) help
..expandHypertensive retinopathy (HP:0001095) help
..expandIncreased retinal vascularity (HP:0007986) help
..expandLipemia retinalis (HP:0000660) help
..expandPeripheral retinal avascularization (HP:0007685) help
..expandRetinal neovascularization (HP:0030666) help
..expandRetinal telangiectasia (HP:0007763) help
..expandRetinal vascular malformation (HP:0007797) help
..expandRetinal vascular proliferation (HP:0007850) help
..expandRetinal vasculitis (HP:0025188) help
..expandRetinal vein occlusion (HP:0012636) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012841HP:0012841Retinal vascular tortuosity0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0012841HP:0012841Retinal vascular tortuosity0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps193
HP:0012841HP:0012841Retinal vascular tortuosity0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0012841HP:0012841Retinal vascular tortuosity0COL4A1 CL E G H12822202ORPHA:73229HANAC syndromeHP:0040281 - Very frequent193
HP:0012841HP:0012841Retinal vascular tortuosity0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0012841HP:0012841Retinal vascular tortuosity0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0012841HP:0012841Retinal vascular tortuosity0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0012841HP:0012841Retinal vascular tortuosity0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0012841HP:0012841Retinal vascular tortuosity0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0012841HP:0012841Retinal vascular tortuosity0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0012841HP:0012841Retinal vascular tortuosity0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0012841HP:0012841Retinal vascular tortuosity0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0012841HP:0012841Retinal vascular tortuosity0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0012841HP:0012841Retinal vascular tortuosity0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0012841HP:0012841Retinal vascular tortuosity0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurity109
HP:0012841HP:0012841Retinal vascular tortuosity0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0012841HP:0012841Retinal vascular tortuosity0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0012841HP:0012841Retinal vascular tortuosity0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0012841HP:0012841Retinal vascular tortuosity0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0012841HP:0012841Retinal vascular tortuosity0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0012841HP:0012841Retinal vascular tortuosity0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurity125
HP:0012841HP:0012841Retinal vascular tortuosity0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0012841HP:0012841Retinal vascular tortuosity0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0012841HP:0012841Retinal vascular tortuosity0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0012841HP:0012841Retinal vascular tortuosity0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0012841HP:0012841Retinal vascular tortuosity0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0012841HP:0012841Retinal vascular tortuosity0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurity39
HP:0012841HP:0012841Retinal vascular tortuosity0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0012841HP:0012841Retinal vascular tortuosity0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0012841HP:0012841Retinal vascular tortuosity0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0012841HP:0012841Retinal vascular tortuosity0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012841HP:0012841Retinal vascular tortuosity0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012841HP:0012841Retinal vascular tortuosity0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0012841HP:0012841Retinal vascular tortuosity0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0012841HP:0012841Retinal vascular tortuosity0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0012841HP:0012841Retinal vascular tortuosity0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0012841HP:0001136Retinal arteriolar tortuosity1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0012841HP:0000631Retinal arterial tortuosity1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0012841HP:0001136Retinal arteriolar tortuosity1ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0012841HP:0001136Retinal arteriolar tortuosity1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0012841HP:0001136Retinal arteriolar tortuosity1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0012841HP:0001136Retinal arteriolar tortuosity1COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of.193
HP:0012841HP:0001136Retinal arteriolar tortuosity1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0012841HP:0000631Retinal arterial tortuosity1COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0012841HP:0001136Retinal arteriolar tortuosity1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0012841HP:0001136Retinal arteriolar tortuosity1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0012841HP:0001136Retinal arteriolar tortuosity1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional109
HP:0012841HP:0001136Retinal arteriolar tortuosity1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0012841HP:0001136Retinal arteriolar tortuosity1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0012841HP:0001136Retinal arteriolar tortuosity1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0012841HP:0001136Retinal arteriolar tortuosity1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0012841HP:0001136Retinal arteriolar tortuosity1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0012841HP:0001136Retinal arteriolar tortuosity1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0012841HP:0001136Retinal arteriolar tortuosity1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional125
HP:0012841HP:0001136Retinal arteriolar tortuosity1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0012841HP:0001136Retinal arteriolar tortuosity1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0012841HP:0001136Retinal arteriolar tortuosity1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0012841HP:0001136Retinal arteriolar tortuosity1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0012841HP:0000631Retinal arterial tortuosity1ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0012841HP:0000631Retinal arterial tortuosity1ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0012841HP:0001136Retinal arteriolar tortuosity1NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional39
HP:0012841HP:0000631Retinal arterial tortuosity1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0012841HP:0001136Retinal arteriolar tortuosity1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012841HP:0000631Retinal arterial tortuosity1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012841HP:0001136Retinal arteriolar tortuosity1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0012841HP:0001136Retinal arteriolar tortuosity1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012841HP:0001136Retinal arteriolar tortuosity1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0012841HP:0007768Central retinal vessel vascular tortuosity2SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent


Genes (56) :ARVCF ATP6 BAZ1B BCL7B BUD23 CENPF CLIP2 COL4A1 COMT COX1 COX3 CYTB DGCR2 DGCR6 DGCR8 DNAJC30 EIF4H ELN ESS2 ETHE1 FKBP6 FZD4 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA IFT172 JMJD1C LAMB2 LIMK1 LRP5 METTL27 MLXIPL NCF1 ND1 ND2 ND4 ND4L ND5 ND6 NDP NDUFS2 NEK1 PAX6 RFC2 RREB1 SEC24C SELENOI STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D WT1

Diseases (22) :ORPHA:567 ORPHA:104 OMIM:535000 ORPHA:644 ORPHA:904 OMIM:243605 OMIM:611773 OMIM:175780 ORPHA:73229 OMIM:180000 OMIM:192430 OMIM:619382 OMIM:194050 ORPHA:51188 ORPHA:90050 OMIM:619471 OMIM:609049 OMIM:305390 ORPHA:2751 OMIM:106210 ORPHA:506353 OMIM:618768
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.