Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Lacrimation abnormality (HP:0000632)help
..Starting node
..expand
Decreased lacrimation (HP:0000633)help
Term ID: 633
Name: Decreased lacrimation
Synonym: Decreased tear secretion
Definition: Abnormally decreased lacrimation, that is, reduced ability to produce tears.
Comments:
Reference: HP:0000633
Genes and Diseases:
 
       Child Nodes:
........expandAlacrima (HP:0000522) help

 Sister Nodes: 
..expandEpiphora (HP:0009926) help
..expandGustatory lacrimation (HP:0100274) 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:0000633HP:0000633Decreased lacrimation0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000633HP:0000633Decreased lacrimation0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2HP:0040283 - Occasional132
HP:0000633HP:0000633Decreased lacrimation0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000633HP:0000633Decreased lacrimation0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0000633HP:0000633Decreased lacrimation0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0000633HP:0000633Decreased lacrimation0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0000633HP:0000633Decreased lacrimation0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0000633HP:0000633Decreased lacrimation0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0000633HP:0000633Decreased lacrimation0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0000633HP:0000633Decreased lacrimation0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000633HP:0000633Decreased lacrimation0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000633HP:0000633Decreased lacrimation0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0000633HP:0000633Decreased lacrimation0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000633HP:0000633Decreased lacrimation0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000633HP:0000633Decreased lacrimation0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000633HP:0000633Decreased lacrimation0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040282 - Frequent92
HP:0000633HP:0000633Decreased lacrimation0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000633HP:0000633Decreased lacrimation0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0000633HP:0000633Decreased lacrimation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000633HP:0000633Decreased lacrimation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000633HP:0000633Decreased lacrimation0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000633HP:0000633Decreased lacrimation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0000633HP:0000633Decreased lacrimation0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000633HP:0000633Decreased lacrimation0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000633HP:0000633Decreased lacrimation0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000633HP:0000633Decreased lacrimation0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0000633HP:0000633Decreased lacrimation0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0000633HP:0000633Decreased lacrimation0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000633HP:0000633Decreased lacrimation0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0000633HP:0000633Decreased lacrimation0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040282 - Frequent61
HP:0000633HP:0000633Decreased lacrimation0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0000633HP:0000522Alacrima1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000633HP:0000522Alacrima1CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0000633HP:0000522Alacrima1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0000633HP:0000522Alacrima1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0000633HP:0000522Alacrima1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000633HP:0000522Alacrima1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000633HP:0000522Alacrima1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000633HP:0000522Alacrima1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000633HP:0000522Alacrima1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0000633HP:0000522Alacrima1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000633HP:0000522Alacrima1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000633HP:0000522Alacrima1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000633HP:0000522Alacrima1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000633HP:0000522Alacrima1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000633HP:0000522Alacrima1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000633HP:0000522Alacrima1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000633HP:0000522Alacrima1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0000633HP:0000522Alacrima1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040283 - Occasional27


Genes (25) :AAAS ALX4 AP1B1 CLDN10 DST ELP1 ERCC4 ERCC6 ERCC8 FGF10 FGFR2 FGFR3 FOXL2 GMPPA LIFR MADD MAPT NGLY1 PAX1 PIGQ PRDM12 SETBP1 SLC12A2 SOX10 TRAPPC11

Diseases (27) :OMIM:231550 OMIM:613451 OMIM:242150 OMIM:617671 OMIM:614653 ORPHA:1764 OMIM:223900 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:149730 ORPHA:572333 OMIM:615510 OMIM:601559 OMIM:619004 OMIM:619005 ORPHA:240071 ORPHA:404454 OMIM:615273 OMIM:615560 OMIM:618548 OMIM:616488 ORPHA:798 OMIM:619080 OMIM:609136 ORPHA:163746 OMIM:615356
 

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