Human Phenotype Ontology 
Grandparent Node:
expandAbnormal venous morphology (HP:0002624)help
Parent Node:
expandVenous insufficiency (HP:0005293)help
..Starting node
..expandVaricose veins (HP:0002619)help
Term ID: 2619
Name: Varicose veins
Synonym:
Definition: Enlarged and tortuous veins.
Comments:
Reference: HP:0002619
Genes and Diseases:
 
       Child Nodes:
........expandVenous varicosities of celiac and mesenteric vessels (HP:0002626) help
........expandVulval varicose vein (HP:0100677) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002619HP:0002619Varicose veins0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0002619HP:0002619Varicose veins0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0002619HP:0002619Varicose veins0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002619HP:0002619Varicose veins0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0002619HP:0002619Varicose veins0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0002619HP:0002619Varicose veins0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0002619HP:0002619Varicose veins0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0002619HP:0002619Varicose veins0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002619HP:0002619Varicose veins0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 7.3
HP:0002619HP:0002619Varicose veins0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040283 - Occasional3
HP:0002619HP:0002619Varicose veins0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0002619HP:0002619Varicose veins0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0002619HP:0002619Varicose veins0FLT4 CL E G H23243767ORPHA:79452Milroy diseaseHP:0040282 - Frequent90
HP:0002619HP:0002619Varicose veins0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0002619HP:0002619Varicose veins0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040282 - Frequent20
HP:0002619HP:0002619Varicose veins0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0002619HP:0002619Varicose veins0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002619HP:0002619Varicose veins0GJC2 CL E G H5716517494ORPHA:79452Milroy diseaseHP:0040282 - Frequent37
HP:0002619HP:0002619Varicose veins0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0002619HP:0002619Varicose veins0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0002619HP:0002619Varicose veins0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0002619HP:0002619Varicose veins0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040283 - Occasional93
HP:0002619HP:0002619Varicose veins0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0002619HP:0002619Varicose veins0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III.36
HP:0002619HP:0002619Varicose veins0PIK3CA CL E G H52908975OMIM:613089Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.162
HP:0002619HP:0002619Varicose veins0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040282 - Frequent88
HP:0002619HP:0002619Varicose veins0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002619HP:0002619Varicose veins0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002619HP:0002619Varicose veins0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0002619HP:0002619Varicose veins0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0002619HP:0002619Varicose veins0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0002619HP:0002619Varicose veins0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0002619HP:0002619Varicose veins0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0002619HP:0002619Varicose veins0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0002619HP:0002619Varicose veins0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002619HP:0002619Varicose veins0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0002619HP:0100677Vulval varicose vein1 CL E G H
HP:0002619HP:0002626Venous varicosities of celiac and mesenteric vessels1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186


Genes (30) :AEBP1 ARVCF CLCNKB COL3A1 COMT ENG EPHB4 FIBP FLT4 FOXC2 G6PC3 GBA1 GJC2 GP1BB HIRA JMJD1C KIF5A NOTCH3 PIEZO1 PIK3CA RASA1 RREB1 SEC24C SLC12A3 SLC29A3 SMAD2 SMAD3 TBX1 UFD1 VHL

Diseases (26) :ORPHA:536532 ORPHA:567 ORPHA:358 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:187300 OMIM:617300 ORPHA:90186 ORPHA:500095 OMIM:617107 ORPHA:79452 OMIM:153400 ORPHA:33001 OMIM:612541 ORPHA:2072 ORPHA:100991 OMIM:125310 OMIM:616843 OMIM:613089 ORPHA:90307 ORPHA:168569 OMIM:602782 OMIM:619656 OMIM:613795 OMIM:263400
 

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