Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the periorbital region (HP:0000606)help
Grandparent Node:
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Facial edema (HP:0000282)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
Parent Node:
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Periorbital edema (HP:0100539)help
..Starting node
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Palpebral edema (HP:0100540)help
Term ID: 100540
Name: Palpebral edema
Synonym: Edema of the eyelids; Eyelid edema; Eyelid oedema; Fullness of eyelids; Oedema of the eyelids; Palpebral oedema; Puffy eyelids; Puffy lids; Swelling of eyelids
Definition: Edema in the region of the eyelids.
Comments:
Reference: HP:0100540
Genes and Diseases:
 
       Child Nodes:
........expandBlepharochalasis (HP:0010749) help
........expandLower eyelid edema (HP:0012568) help
........expandUpper eyelid edema (HP:0012724) 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:0100540HP:0100540Palpebral edema0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0100540HP:0100540Palpebral edema0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0100540HP:0100540Palpebral edema0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0100540HP:0100540Palpebral edema0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0100540HP:0100540Palpebral edema0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0100540HP:0100540Palpebral edema0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardationHP:0040283 - Occasional34
HP:0100540HP:0100540Palpebral edema0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0100540HP:0100540Palpebral edema0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0100540HP:0100540Palpebral edema0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0100540HP:0100540Palpebral edema0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0100540HP:0100540Palpebral edema0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0100540HP:0100540Palpebral edema0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent79
HP:0100540HP:0100540Palpebral edema0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent
HP:0100540HP:0100540Palpebral edema0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0100540HP:0100540Palpebral edema0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent1
HP:0100540HP:0100540Palpebral edema0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0100540HP:0100540Palpebral edema0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0100540HP:0100540Palpebral edema0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0100540HP:0100540Palpebral edema0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0100540HP:0100540Palpebral edema0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0100540HP:0100540Palpebral edema0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100540HP:0100540Palpebral edema0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0100540HP:0100540Palpebral edema0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0100540HP:0100540Palpebral edema0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040282 - Frequent276
HP:0100540HP:0100540Palpebral edema0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0100540HP:0100540Palpebral edema0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0100540HP:0100540Palpebral edema0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100540HP:0100540Palpebral edema0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0100540HP:0100540Palpebral edema0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0100540HP:0100540Palpebral edema0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0100540HP:0100540Palpebral edema0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0100540HP:0100540Palpebral edema0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0100540HP:0100540Palpebral edema0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0100540HP:0100540Palpebral edema0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0100540HP:0100540Palpebral edema0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0100540HP:0100540Palpebral edema0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0100540HP:0100540Palpebral edema0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0100540HP:0100540Palpebral edema0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0100540HP:0100540Palpebral edema0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent174
HP:0100540HP:0100540Palpebral edema0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0100540HP:0100540Palpebral edema0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0100540HP:0100540Palpebral edema0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040282 - Frequent7
HP:0100540HP:0100540Palpebral edema0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0100540HP:0100540Palpebral edema0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100540HP:0100540Palpebral edema0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0100540HP:0100540Palpebral edema0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0100540HP:0100540Palpebral edema0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040282 - Frequent1
HP:0100540HP:0012568Lower eyelid edema1 CL E G H
HP:0100540HP:0010749Blepharochalasis1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0100540HP:0010749Blepharochalasis1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0100540HP:0010749Blepharochalasis1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0100540HP:0010749Blepharochalasis1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0100540HP:0010749Blepharochalasis1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0100540HP:0012724Upper eyelid edema1FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0100540HP:0010749Blepharochalasis1GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0100540HP:0012724Upper eyelid edema1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100540HP:0012724Upper eyelid edema1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100540HP:0012724Upper eyelid edema1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0100540HP:0012724Upper eyelid edema1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68


Genes (40) :ACTB ACTG1 ADAMTS2 AIP ANTXR1 CAMTA1 CDH11 COL1A1 COL5A1 COL5A2 DNMT3B DUX4 FOXG1 FRG1 FRMD4A GNPTAB GPR101 GSN KAT6A KCTD1 KIF1A KNSTRN KPTN MED12L PEX2 PEX5 PIK3CD POU4F1 PSPH RIN2 SHANK3 SLC29A3 SLC35C1 SMCHD1 SNX14 SOX18 SPTBN1 TGFBI XPNPEP2 ZNHIT3

Diseases (37) :ORPHA:2995 OMIM:225410 ORPHA:963 ORPHA:2067 OMIM:614756 ORPHA:314647 ORPHA:1299 ORPHA:287 ORPHA:269 ORPHA:261144 OMIM:616819 ORPHA:466688 OMIM:252500 ORPHA:85448 OMIM:616268 ORPHA:2036 OMIM:181270 ORPHA:2836 ORPHA:221139 ORPHA:397612 OMIM:618872 OMIM:614866 OMIM:214110 ORPHA:79350 OMIM:613075 ORPHA:217335 ORPHA:48652 OMIM:606232 ORPHA:168569 ORPHA:99843 ORPHA:397709 OMIM:607823 ORPHA:69735 OMIM:137940 OMIM:619475 OMIM:608470 ORPHA:100057
 

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