Human Phenotype Ontology 
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Glaucoma (HP:0000501)help
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Developmental glaucoma (HP:0001087)help
Term ID: 1087
Name: Developmental glaucoma
Synonym: Childhood glaucoma; Infantile glaucoma; Paediatric glaucoma; Pediatric glaucoma
Definition: Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
Comments:
Reference: HP:0001087
Genes and Diseases:
 
       Child Nodes:
........expandBuphthalmos (HP:0000557) help
........expandPrimary congenital glaucoma (HP:0008007) help
........expandLate onset congenital glaucoma (HP:0008041) help

 Sister Nodes: 
..expandAngle closure glaucoma (HP:0012109) help
..expandOcular hypertension (HP:0007906) help
..expandOpen angle glaucoma (HP:0012108) 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:0001087HP:0001087Developmental glaucoma0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001087HP:0001087Developmental glaucoma0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0001087HP:0001087Developmental glaucoma0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001087HP:0001087Developmental glaucoma0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0001087HP:0001087Developmental glaucoma0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0001087HP:0001087Developmental glaucoma0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0001087HP:0001087Developmental glaucoma0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0001087HP:0001087Developmental glaucoma0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001087HP:0001087Developmental glaucoma0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B101
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040282 - Frequent101
HP:0001087HP:0001087Developmental glaucoma0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0001087HP:0001087Developmental glaucoma0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0001087HP:0001087Developmental glaucoma0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0001087HP:0001087Developmental glaucoma0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0001087HP:0001087Developmental glaucoma0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0001087HP:0001087Developmental glaucoma0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040283 - Occasional493
HP:0001087HP:0001087Developmental glaucoma0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040282 - Frequent63
HP:0001087HP:0001087Developmental glaucoma0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040282 - Frequent23
HP:0001087HP:0001087Developmental glaucoma0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 13
HP:0001087HP:0001087Developmental glaucoma0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0001087HP:0001087Developmental glaucoma0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0001087HP:0001087Developmental glaucoma0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0001087HP:0001087Developmental glaucoma0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0001087HP:0001087Developmental glaucoma0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001087HP:0001087Developmental glaucoma0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0001087HP:0001087Developmental glaucoma0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0001087HP:0001087Developmental glaucoma0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001087HP:0001087Developmental glaucoma0LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D123
HP:0001087HP:0001087Developmental glaucoma0LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B123
HP:0001087HP:0001087Developmental glaucoma0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001087HP:0001087Developmental glaucoma0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitusHP:0040284 - Very rare
HP:0001087HP:0001087Developmental glaucoma0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0001087HP:0001087Developmental glaucoma0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0001087HP:0001087Developmental glaucoma0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0001087HP:0001087Developmental glaucoma0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0001087HP:0001087Developmental glaucoma0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040282 - Frequent194
HP:0001087HP:0001087Developmental glaucoma0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040282 - Frequent51
HP:0001087HP:0001087Developmental glaucoma0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0001087HP:0001087Developmental glaucoma0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0001087HP:0001087Developmental glaucoma0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0001087HP:0001087Developmental glaucoma0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0001087HP:0001087Developmental glaucoma0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0001087HP:0001087Developmental glaucoma0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0001087HP:0001087Developmental glaucoma0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0001087HP:0001087Developmental glaucoma0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001087HP:0001087Developmental glaucoma0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001087HP:0001087Developmental glaucoma0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001087HP:0001087Developmental glaucoma0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001087HP:0001087Developmental glaucoma0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001087HP:0001087Developmental glaucoma0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001087HP:0001087Developmental glaucoma0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001087HP:0001087Developmental glaucoma0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001087HP:0001087Developmental glaucoma0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001087HP:0001087Developmental glaucoma0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001087HP:0001087Developmental glaucoma0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001087HP:0001087Developmental glaucoma0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0001087HP:0001087Developmental glaucoma0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0001087HP:0001087Developmental glaucoma0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0001087HP:0001087Developmental glaucoma0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001087HP:0001087Developmental glaucoma0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0001087HP:0001087Developmental glaucoma0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0001087HP:0001087Developmental glaucoma0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0001087HP:0001087Developmental glaucoma0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001087HP:0001087Developmental glaucoma0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001087HP:0001087Developmental glaucoma0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001087HP:0001087Developmental glaucoma0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001087HP:0001087Developmental glaucoma0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001087HP:0001087Developmental glaucoma0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001087HP:0001087Developmental glaucoma0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001087HP:0001087Developmental glaucoma0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001087HP:0001087Developmental glaucoma0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001087HP:0001087Developmental glaucoma0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001087HP:0001087Developmental glaucoma0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0001087HP:0001087Developmental glaucoma0TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B78
HP:0001087HP:0001087Developmental glaucoma0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0001087HP:0001087Developmental glaucoma0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001087HP:0001087Developmental glaucoma0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0001087HP:0008007Primary congenital glaucoma1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0001087HP:0000557Buphthalmos1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0001087HP:0000557Buphthalmos1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0001087HP:0000557Buphthalmos1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0001087HP:0000557Buphthalmos1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0001087HP:0000557Buphthalmos1CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0001087HP:0008041Late onset congenital glaucoma1CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0001087HP:0008007Primary congenital glaucoma1CYP1B1 CL E G H15452597OMIM:600975Glaucoma 3, primary infantile, B.101
HP:0001087HP:0000557Buphthalmos1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040283 - Occasional108
HP:0001087HP:0000557Buphthalmos1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0001087HP:0000557Buphthalmos1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0001087HP:0000557Buphthalmos1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0001087HP:0000557Buphthalmos1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0001087HP:0000557Buphthalmos1FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001087HP:0000557Buphthalmos1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0001087HP:0000557Buphthalmos1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0001087HP:0000557Buphthalmos1GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0001087HP:0000557Buphthalmos1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0001087HP:0008007Primary congenital glaucoma1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001087HP:0008007Primary congenital glaucoma1LTBP2 CL E G H40536715OMIM:613086Glaucoma 3, primary congenital, D.123
HP:0001087HP:0008007Primary congenital glaucoma1LTBP2 CL E G H40536715OMIM:600975Glaucoma 3, primary infantile, B.123
HP:0001087HP:0000557Buphthalmos1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0001087HP:0000557Buphthalmos1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0001087HP:0000557Buphthalmos1NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0001087HP:0000557Buphthalmos1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0001087HP:0000557Buphthalmos1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0001087HP:0000557Buphthalmos1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001087HP:0000557Buphthalmos1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0001087HP:0000557Buphthalmos1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0001087HP:0000557Buphthalmos1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0001087HP:0000557Buphthalmos1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0001087HP:0000557Buphthalmos1PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0001087HP:0008007Primary congenital glaucoma1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0001087HP:0000557Buphthalmos1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001087HP:0000557Buphthalmos1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001087HP:0008007Primary congenital glaucoma1TEK CL E G H701011724OMIM:600975Glaucoma 3, primary infantile, B.78
HP:0001087HP:0000557Buphthalmos1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (71) :ADA2 ADAMTSL1 ADAR AKT1 ATOH7 B3GAT3 CANT1 CHST3 CYP1B1 DAG1 FGFR2 FKRP FKTN FLNA FOXC1 FOXE3 FUT8 FZD4 GATA1 GLIS3 GNAQ IFIH1 LARGE1 LMX1B LSM11 LTBP2 MAB21L1 MAFA NCAPG2 NDP OCRL PAX6 PITX2 POMGNT1 POMT1 POMT2 PTEN PXDN PYCR1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMHD1 SBF2 SH3PXD2B SRY TEK TREX1 TSR2 TWIST1

Diseases (35) :ORPHA:124 ORPHA:521445 ORPHA:51 ORPHA:744 ORPHA:91495 OMIM:221900 OMIM:245600 OMIM:251450 OMIM:617315 OMIM:231300 OMIM:600975 ORPHA:708 ORPHA:370997 OMIM:616538 OMIM:101400 OMIM:236670 ORPHA:90652 OMIM:618005 OMIM:610199 OMIM:185300 ORPHA:2614 OMIM:613086 OMIM:618479 OMIM:147630 OMIM:618460 OMIM:310600 ORPHA:534 OMIM:253280 OMIM:613150 OMIM:269400 OMIM:614438 OMIM:105650 ORPHA:99956 OMIM:249420 ORPHA:1772
 

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