Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Generalized abnormality of skin (HP:0011354)help
..Starting node
..expand
Flushing (HP:0031284)help
Term ID: 31284
Name: Flushing
Synonym:
Definition: Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.
Comments:
Reference: HP:0031284
Genes and Diseases:
 
       Child Nodes:
........expandFacial flushing after alcohol intake (HP:0001033) help

 Sister Nodes: 
..expandAbnormality of subcutaneous fat tissue (HP:0001001) help
..expandCutaneous photosensitivity (HP:0000992) help
..expandDermatological manifestations of systemic disorders (HP:0001005) help
..expandDesquamation of skin soon after birth (HP:0007549) help
..expandEctodermal dysplasia (HP:0000968) help
..expandFragile skin (HP:0001030) help
..expandGeneralized papillary lesions (HP:0007482) help
..expandPoor wound healing (HP:0001058) help
..expandPrematurely aged appearance (HP:0007495) help
..expandSubcutaneous calcification (HP:0007618) help
..expandVascular skin abnormality (HP:0011276) 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:0031284HP:0031284Flushing0ADGRE2 CL E G H308173337OMIM:125630Dermodistortive urticaria2
HP:0031284HP:0031284Flushing0ALDH2 CL E G H217404OMIM:610251Alcohol sensitivity, acute1
HP:0031284HP:0031284Flushing0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0031284HP:0031284Flushing0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0031284HP:0031284Flushing0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0031284HP:0031284Flushing0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0031284HP:0031284Flushing0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0031284HP:0031284Flushing0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0031284HP:0031284Flushing0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0031284HP:0031284Flushing0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0031284HP:0031284Flushing0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0031284HP:0031284Flushing0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0031284HP:0031284Flushing0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional172
HP:0031284HP:0031284Flushing0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0031284HP:0031284Flushing0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0031284HP:0031284Flushing0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0031284HP:0031284Flushing0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0031284HP:0031284Flushing0HNF4A CL E G H31725024OMIM:125850Maturity-onset diabetes of the young, type 1.138
HP:0031284HP:0031284Flushing0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0031284HP:0031284Flushing0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0031284HP:0031284Flushing0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0031284HP:0031284Flushing0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0031284HP:0031284Flushing0MAOA CL E G H41286833OMIM:300615Brunner syndromeHP:0040284 - Very rare22
HP:0031284HP:0031284Flushing0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0031284HP:0031284Flushing0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0031284HP:0031284Flushing0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0031284HP:0031284Flushing0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional4
HP:0031284HP:0031284Flushing0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional7
HP:0031284HP:0031284Flushing0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0031284HP:0031284Flushing0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0031284HP:0031284Flushing0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0031284HP:0031284Flushing0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0031284HP:0031284Flushing0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0031284HP:0031284Flushing0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0031284HP:0031284Flushing0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0031284HP:0031284Flushing0SCN9A CL E G H633510597OMIM:167400Paroxysmal extreme pain disorder.318
HP:0031284HP:0031284Flushing0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0031284HP:0031284Flushing0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0031284HP:0031284Flushing0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0031284HP:0031284Flushing0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0031284HP:0031284Flushing0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0031284HP:0031284Flushing0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0031284HP:0031284Flushing0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0031284HP:0031284Flushing0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0031284HP:0031284Flushing0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0031284HP:0031284Flushing0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0031284HP:0031284Flushing0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0031284HP:0031284Flushing0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0031284HP:0031284Flushing0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0031284HP:0031284Flushing0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0031284HP:0031284Flushing0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0031284HP:0031284Flushing0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0031284HP:0031284Flushing0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0031284HP:0031284Flushing0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0031284HP:0031284Flushing0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0031284HP:0031284Flushing0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0031284HP:0001033Facial flushing after alcohol intake1ALDH2 CL E G H217404OMIM:610251Alcohol sensitivity, acute.1


Genes (47) :ADGRE2 ALDH2 APC2 ASXL1 ATP1A2 ATP1A3 ATRX BRAF CACNA1A CBL CDH23 DEPDC5 DLST DNMT3A EPAS1 FH HNF4A HPGD KIF1B KIT MAOA MAX MDH2 NF1 NPRL2 NPRL3 NR3C1 NSD1 RET RUNX1 RYR1 SCN9A SDHA SDHAF2 SDHB SDHC SDHD SETD2 SLC1A3 SLC25A11 SRSF2 TET2 TMEM127 TP53 USP48 USP8 VHL

Diseases (17) :OMIM:125630 OMIM:610251 ORPHA:821 ORPHA:98850 ORPHA:98849 ORPHA:2131 ORPHA:96253 ORPHA:98820 ORPHA:29072 ORPHA:276621 OMIM:125850 OMIM:259100 ORPHA:79455 OMIM:300615 OMIM:162300 ORPHA:466650 OMIM:167400
 

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