Human Phenotype Ontology 
Grandparent Node:
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Conjunctivitis (HP:0000509)help
Grandparent Node:
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Keratitis (HP:0000491)help
Parent Node:
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Keratoconjunctivitis (HP:0001096)help
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Keratoconjunctivitis sicca (HP:0001097)help
Term ID: 1097
Name: Keratoconjunctivitis sicca
Synonym: Dry eye syndrome; Dry eyes; Keratitis sicca; Xerophthalmia
Definition: Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Comments:
Reference: HP:0001097
Genes and Diseases:
 
       Child Nodes:

 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:0001097HP:0001097Keratoconjunctivitis sicca0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0001097HP:0001097Keratoconjunctivitis sicca0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001097HP:0001097Keratoconjunctivitis sicca0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040283 - Occasional129
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group DHP:0040283 - Occasional106
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0001097HP:0001097Keratoconjunctivitis sicca0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0001097HP:0001097Keratoconjunctivitis sicca0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001097HP:0001097Keratoconjunctivitis sicca0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0001097HP:0001097Keratoconjunctivitis sicca0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0001097HP:0001097Keratoconjunctivitis sicca0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0001097HP:0001097Keratoconjunctivitis sicca0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0001097HP:0001097Keratoconjunctivitis sicca0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001097HP:0001097Keratoconjunctivitis sicca0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001097HP:0001097Keratoconjunctivitis sicca0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0001097HP:0001097Keratoconjunctivitis sicca0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001097HP:0001097Keratoconjunctivitis sicca0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001097HP:0001097Keratoconjunctivitis sicca0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0001097HP:0001097Keratoconjunctivitis sicca0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0001097HP:0001097Keratoconjunctivitis sicca0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001097HP:0001097Keratoconjunctivitis sicca0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001097HP:0001097Keratoconjunctivitis sicca0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0001097HP:0001097Keratoconjunctivitis sicca0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0001097HP:0001097Keratoconjunctivitis sicca0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0001097HP:0001097Keratoconjunctivitis sicca0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001097HP:0001097Keratoconjunctivitis sicca0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0001097HP:0001097Keratoconjunctivitis sicca0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0001097HP:0001097Keratoconjunctivitis sicca0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001097HP:0001097Keratoconjunctivitis sicca0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0001097HP:0001097Keratoconjunctivitis sicca0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001097HP:0001097Keratoconjunctivitis sicca0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0001097HP:0001097Keratoconjunctivitis sicca0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0001097HP:0001097Keratoconjunctivitis sicca0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0001097HP:0001097Keratoconjunctivitis sicca0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001097HP:0001097Keratoconjunctivitis sicca0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001097HP:0001097Keratoconjunctivitis sicca0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0001097HP:0001097Keratoconjunctivitis sicca0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (45) :AEBP1 BTNL2 C4A CARS1 CCR1 COL17A1 ERAP1 ERCC2 ERCC3 ERCC6 ERCC8 FAS FBN1 FGF10 FGFR2 FGFR3 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 IARS2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR MAB21L1 MEFV MPLKIP MTTP NLRP1 NOD2 RNF113A RNF125 SCN9A SREBF1 STAT4 TARS1 TLR4 UBAC2

Diseases (23) :ORPHA:536532 ORPHA:797 ORPHA:117 ORPHA:33364 ORPHA:293381 OMIM:601675 OMIM:278730 ORPHA:90324 OMIM:616914 ORPHA:2363 OMIM:148210 ORPHA:477 ORPHA:85448 OMIM:616007 ORPHA:779 OMIM:618479 OMIM:234050 ORPHA:14 OMIM:617388 OMIM:617321 OMIM:616260 OMIM:133020 OMIM:619016
 

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