Term ID:
621
Name:
Entropion
Synonym:
Eyelid folded in; Eyelid turned in; Inverted eyelid
Definition:
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Comments:
Reference:
HP:0000621
Genes and Diseases: Child Nodes: ........Upper eyelid entropion (HP:0025607) ........Involutional entropion (HP:0031736) ........Cicatricial entropion (HP:0031737) ........Mechanical entropion (HP:0031738) Sister Nodes: ..Abnormal eyelash morphology (HP:0000499) ..Abnormal levator palpebrae superioris morphology (HP:3000072) ..Abnormality of the palpebral fissures (HP:0008050) ..Accessory eyelid (HP:0430008) ..Ankyloblepharon (HP:0009755) ..Aplasia/Hypoplasia of the eyelid (HP:0011226) ..Blepharitis (HP:0000498) ..Blepharospasm (HP:0000643) ..Dermatochalasis (HP:0010750) ..Ectropion (HP:0000656) ..Epiblepharon (HP:0011225) ..Epicanthus (HP:0000286) ..Erythema of the eyelids (HP:0040323) ..Euryblepharon (HP:0012905) ..Eyelid apraxia (HP:0000658) ..Eyelid retraction (HP:0500043) ..Heliotrope rash of eyelid (HP:0030845) ..Hooded eyelid (HP:0030820) ..Hyperpigmentation of eyelids (HP:0007406) ..Lagophthalmos (HP:0030001) ..Lipomas of eyelids (HP:0040164) ..Microblepharia (HP:0430010) ..Nodular changes affecting the eyelids (HP:0010732) ..Palpebral edema (HP:0100540) ..Palpebral thickening (HP:0030939) ..Symblepharon (HP:0430007) ..Telecanthus (HP:0000506) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0000621 HP:0000621 Entropion 0 ALDH1A3 CL E G H 220 409 OMIM:615113 Microphthalmia, isolated 8 HP:0040283 - Occasional 10 HP:0000621 HP:0000621 Entropion 0 ATP6V1A CL E G H 523 851 OMIM:617403 Cutis laxa, autosomal recessive, type IID . 3 HP:0000621 HP:0000621 Entropion 0 ATP6V1E1 CL E G H 529 857 OMIM:617402 Cutis laxa, autosomal recessive, type IIC . 2 HP:0000621 HP:0000621 Entropion 0 DDB2 CL E G H 1643 2718 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 30 HP:0000621 HP:0000621 Entropion 0 DDB2 CL E G H 1643 2718 OMIM:278740 Xeroderma pigmentosum, complementation group E . 30 HP:0000621 HP:0000621 Entropion 0 ERCC2 CL E G H 2068 3434 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 106 HP:0000621 HP:0000621 Entropion 0 ERCC2 CL E G H 2068 3434 OMIM:278730 Xeroderma pigmentosum, complementation group D . 106 HP:0000621 HP:0000621 Entropion 0 ERCC3 CL E G H 2071 3435 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 54 HP:0000621 HP:0000621 Entropion 0 ERCC4 CL E G H 2072 3436 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 158 HP:0000621 HP:0000621 Entropion 0 ERCC5 CL E G H 2073 3437 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 83 HP:0000621 HP:0000621 Entropion 0 ERCC6 CL E G H 2074 3438 OMIM:278800 De Sanctis-Cacchione syndrome . 199 HP:0000621 HP:0000621 Entropion 0 GMNN CL E G H 51053 17493 OMIM:616835 Meier-Gorlin syndrome 6 . 3 HP:0000621 HP:0000621 Entropion 0 HLA-B CL E G H 3106 4932 ORPHA:36426 Stevens-Johnson syndrome HP:0040283 - Occasional 4 HP:0000621 HP:0000621 Entropion 0 IKZF1 CL E G H 10320 13176 ORPHA:36426 Stevens-Johnson syndrome HP:0040283 - Occasional 8 HP:0000621 HP:0000621 Entropion 0 LMNA CL E G H 4000 6636 ORPHA:1662 Restrictive dermopathy HP:0040281 - Very frequent 645 HP:0000621 HP:0000621 Entropion 0 POLH CL E G H 5429 9181 OMIM:278750 Xeroderma pigmentosum, Variant type . 155 HP:0000621 HP:0000621 Entropion 0 POLR3A CL E G H 11128 30074 OMIM:264090 Wiedemann-Rautenstrauch syndrome . 138 HP:0000621 HP:0000621 Entropion 0 POLR3A CL E G H 11128 30074 ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0040281 - Very frequent 138 HP:0000621 HP:0000621 Entropion 0 PPP2R1A CL E G H 5518 9302 ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 13 HP:0000621 HP:0000621 Entropion 0 TP63 CL E G H 8626 15979 ORPHA:1896 EEC syndrome HP:0040283 - Occasional 140 HP:0000621 HP:0000621 Entropion 0 XPA CL E G H 7507 12814 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 34 HP:0000621 HP:0000621 Entropion 0 XPA CL E G H 7507 12814 OMIM:278700 Xeroderma pigmentosum, complementation group A . 34 HP:0000621 HP:0000621 Entropion 0 XPC CL E G H 7508 12816 ORPHA:910 Xeroderma pigmentosum HP:0040283 - Occasional 86 HP:0000621 HP:0000621 Entropion 0 XPC CL E G H 7508 12816 OMIM:278720 Xeroderma pigmentosum, complementation group C . 86 HP:0000621 HP:0000621 Entropion 0 ZMPSTE24 CL E G H 10269 12877 ORPHA:1662 Restrictive dermopathy HP:0040281 - Very frequent 83 HP:0000621 HP:0000621 Entropion 0 ZMPSTE24 CL E G H 10269 12877 OMIM:275210 Restrictive dermopathy, lethal . 83 HP:0000621 HP:0031738 Mechanical entropion 1 CL E G H HP:0000621 HP:0031737 Cicatricial entropion 1 CL E G H HP:0000621 HP:0031736 Involutional entropion 1 CL E G H HP:0000621 HP:0025607 Upper eyelid entropion 1 PPP2R1A CL E G H 5518 9302 ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0040283 - Occasional 13
Genes (20) :ALDH1A3 ATP6V1A ATP6V1E1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GMNN HLA-B IKZF1 LMNA POLH POLR3A PPP2R1A TP63 XPA XPC ZMPSTE24 Diseases (18) :OMIM:615113 OMIM:617403 OMIM:617402 ORPHA:910 OMIM:278740 OMIM:278730 OMIM:278800 OMIM:616835 ORPHA:36426 ORPHA:1662 OMIM:278750 OMIM:264090 ORPHA:3455 ORPHA:457284 ORPHA:1896 OMIM:278700 OMIM:278720 OMIM:275210
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.