Human Phenotype Ontology 
Grandparent Node:
expand
Localized skin lesion (HP:0011355)help
Parent Node:
expand
Capillary malformation (HP:0025104)help
Parent Node:
expand
Nevus (HP:0003764)help
..Starting node
..expand
Nevus flammeus (HP:0001052)help
Term ID: 1052
Name: Nevus flammeus
Synonym: Nevus simplex; port-wine stain
Definition: A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Comments:
Reference: HP:0001052
Genes and Diseases:
 
       Child Nodes:
........expandNevus flammeus of the forehead (HP:0007413) help
........expandNevus flammeus nuchae (HP:0007616) help
........expandNaevus flammeus of the eyelid (HP:0010733) help

 Sister Nodes: 
..expandAtypical nevi in non-sun exposed areas (HP:0001074) help
..expandAtypical nevus (HP:0001062) help
..expandBlue nevus (HP:0100814) help
..expandCongenital panfollicular nevus (HP:0025471) help
..expandConnective tissue nevi (HP:0100898) help
..expandEpidermal nevus (HP:0010816) help
..expandMelanocytic nevus (HP:0000995) help
..expandNevus of Ota (HP:0009920) help
..expandNevus sebaceus (HP:0025511) help
..expandNevus spilus (HP:0025510) help
..expandNumerous nevi (HP:0001054) 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:0001052HP:0001052Nevus flammeus0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040281 - Very frequent145
HP:0001052HP:0001052Nevus flammeus0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001052HP:0001052Nevus flammeus0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0001052HP:0001052Nevus flammeus0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001052HP:0001052Nevus flammeus0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001052HP:0001052Nevus flammeus0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0001052HP:0001052Nevus flammeus0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0CYP1B1 CL E G H15452597ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent101
HP:0001052HP:0001052Nevus flammeus0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0001052HP:0001052Nevus flammeus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0001052HP:0001052Nevus flammeus0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0001052HP:0001052Nevus flammeus0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0001052HP:0001052Nevus flammeus0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001052HP:0001052Nevus flammeus0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001052HP:0001052Nevus flammeus0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0001052HP:0001052Nevus flammeus0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0001052HP:0001052Nevus flammeus0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040281 - Very frequent7
HP:0001052HP:0001052Nevus flammeus0GNAQ CL E G H27764390OMIM:163000Nevi flammei, familial multiple.7
HP:0001052HP:0001052Nevus flammeus0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001052HP:0001052Nevus flammeus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001052HP:0001052Nevus flammeus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001052HP:0001052Nevus flammeus0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0001052HP:0001052Nevus flammeus0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0001052HP:0001052Nevus flammeus0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0001052HP:0001052Nevus flammeus0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0001052HP:0001052Nevus flammeus0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0001052HP:0001052Nevus flammeus0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0001052HP:0001052Nevus flammeus0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0001052HP:0001052Nevus flammeus0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0001052HP:0001052Nevus flammeus0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0LTBP2 CL E G H40536715ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent123
HP:0001052HP:0001052Nevus flammeus0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0001052HP:0001052Nevus flammeus0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001052HP:0001052Nevus flammeus0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001052HP:0001052Nevus flammeus0MYOC CL E G H46537610ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent47
HP:0001052HP:0001052Nevus flammeus0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001052HP:0001052Nevus flammeus0NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndromeHP:0040283 - Occasional9
HP:0001052HP:0001052Nevus flammeus0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001052HP:0001052Nevus flammeus0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0001052HP:0001052Nevus flammeus0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0001052HP:0001052Nevus flammeus0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0001052HP:0001052Nevus flammeus0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0001052HP:0001052Nevus flammeus0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001052HP:0001052Nevus flammeus0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0001052HP:0001052Nevus flammeus0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001052HP:0001052Nevus flammeus0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0001052HP:0001052Nevus flammeus0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0001052HP:0001052Nevus flammeus0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0001052HP:0001052Nevus flammeus0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001052HP:0001052Nevus flammeus0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0TEK CL E G H701011724ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent78
HP:0001052HP:0001052Nevus flammeus0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001052HP:0001052Nevus flammeus0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001052HP:0001052Nevus flammeus0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001052HP:0001052Nevus flammeus0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0001052HP:0001052Nevus flammeus0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0001052HP:0007616Nevus flammeus nuchae1 CL E G H
HP:0001052HP:0010733Naevus flammeus of the eyelid1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0001052HP:0007413Nevus flammeus of the forehead1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0001052HP:0007413Nevus flammeus of the forehead1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001052HP:0007413Nevus flammeus of the forehead1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001052HP:0010733Naevus flammeus of the eyelid1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0001052HP:0010733Naevus flammeus of the eyelid1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001052HP:0010733Naevus flammeus of the eyelid1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001052HP:0010733Naevus flammeus of the eyelid1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001052HP:0007413Nevus flammeus of the forehead1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0001052HP:0007413Nevus flammeus of the forehead1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040281 - Very frequent43
HP:0001052HP:0007413Nevus flammeus of the forehead1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0001052HP:0010733Naevus flammeus of the eyelid1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0001052HP:0007413Nevus flammeus of the forehead1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001052HP:0007413Nevus flammeus of the forehead1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0001052HP:0010733Naevus flammeus of the eyelid1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98


Genes (57) :ASXL1 ASXL2 BAZ1B BCL7B BUD23 CDK10 CDK13 CDKN1C CLIP2 CYP1B1 DIS3L2 DNAJC30 DVL1 DVL3 EDEM3 EIF4H ELN FGFR1 FKBP6 FZD2 GNAQ GTF2I GTF2IRD1 GTF2IRD2 H19 H19-ICR IGF2 KCNQ1 KCNQ1OT1 KRAS LBR LIMK1 LTBP2 MED25 METTL27 MLXIPL MYOC NCF1 NEK9 NXN PIK3CA PLP1 PUF60 RBM8A RFC2 ROR2 SETBP1 SLC26A2 SMC3 STX1A TBL2 TEK TGFB3 TMEM270 TRIM37 VPS37D WNT5A

Diseases (32) :ORPHA:97297 OMIM:605039 OMIM:617190 ORPHA:904 OMIM:617694 OMIM:617360 OMIM:130650 ORPHA:98976 ORPHA:2849 ORPHA:3107 OMIM:180700 OMIM:619493 ORPHA:2396 ORPHA:624 OMIM:163000 ORPHA:231140 OMIM:618019 ORPHA:464738 ORPHA:64754 ORPHA:1507 ORPHA:60040 ORPHA:280229 ORPHA:508488 ORPHA:508498 OMIM:274000 ORPHA:3320 OMIM:268310 OMIM:616078 OMIM:222600 OMIM:610759 OMIM:615582 OMIM:253250
 

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