Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Ptosis (HP:0000508)help
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Bilateral ptosis (HP:0001488)help
Term ID: 1488
Name: Bilateral ptosis
Synonym: Drooping of both upper eyelids
Definition:
Comments:
Reference: HP:0001488
Genes and Diseases:
 
       Child Nodes:
........expandCongenital bilateral ptosis (HP:0007911) help

 Sister Nodes: 
..expandCongenital ptosis (HP:0007970) help
..expandHorner syndrome (HP:0002277) help
..expandProgressive ptosis (HP:0007838) help
..expandUnilateral ptosis (HP:0007687) 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:0001488HP:0001488Bilateral ptosis0ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040283 - Occasional245
HP:0001488HP:0001488Bilateral ptosis0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0001488HP:0001488Bilateral ptosis0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0001488HP:0001488Bilateral ptosis0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0001488HP:0001488Bilateral ptosis0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001488HP:0001488Bilateral ptosis0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0001488HP:0001488Bilateral ptosis0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0001488HP:0001488Bilateral ptosis0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0001488HP:0001488Bilateral ptosis0CDC42BPB CL E G H95781738OMIM:619841
HP:0001488HP:0001488Bilateral ptosis0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0001488HP:0001488Bilateral ptosis0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0001488HP:0001488Bilateral ptosis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001488HP:0001488Bilateral ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001488HP:0001488Bilateral ptosis0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040283 - Occasional284
HP:0001488HP:0001488Bilateral ptosis0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0001488HP:0001488Bilateral ptosis0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040281 - Very frequent80
HP:0001488HP:0001488Bilateral ptosis0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0001488HP:0001488Bilateral ptosis0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0001488HP:0001488Bilateral ptosis0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0001488HP:0001488Bilateral ptosis0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0001488HP:0001488Bilateral ptosis0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0001488HP:0001488Bilateral ptosis0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0001488HP:0001488Bilateral ptosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0001488HP:0001488Bilateral ptosis0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0001488HP:0001488Bilateral ptosis0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0001488HP:0001488Bilateral ptosis0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040283 - Occasional127
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0001488HP:0001488Bilateral ptosis0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0001488HP:0001488Bilateral ptosis0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001488HP:0001488Bilateral ptosis0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0001488HP:0001488Bilateral ptosis0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001488HP:0001488Bilateral ptosis0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0001488HP:0001488Bilateral ptosis0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001488HP:0001488Bilateral ptosis0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0001488HP:0001488Bilateral ptosis0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001488HP:0001488Bilateral ptosis0NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040283 - Occasional34
HP:0001488HP:0001488Bilateral ptosis0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0001488HP:0001488Bilateral ptosis0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0001488HP:0001488Bilateral ptosis0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0001488HP:0001488Bilateral ptosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0001488HP:0001488Bilateral ptosis0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0001488HP:0001488Bilateral ptosis0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001488HP:0001488Bilateral ptosis0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0001488HP:0001488Bilateral ptosis0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0001488HP:0001488Bilateral ptosis0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0001488HP:0001488Bilateral ptosis0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0001488HP:0001488Bilateral ptosis0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0001488HP:0001488Bilateral ptosis0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0001488HP:0001488Bilateral ptosis0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0001488HP:0001488Bilateral ptosis0PDZD8 CL E G H11898726974OMIM:620021
HP:0001488HP:0001488Bilateral ptosis0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0001488HP:0001488Bilateral ptosis0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0001488HP:0001488Bilateral ptosis0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0001488HP:0001488Bilateral ptosis0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001488HP:0001488Bilateral ptosis0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0001488HP:0001488Bilateral ptosis0RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0001488HP:0001488Bilateral ptosis0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0001488HP:0001488Bilateral ptosis0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0001488HP:0001488Bilateral ptosis0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0001488HP:0001488Bilateral ptosis0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0001488HP:0001488Bilateral ptosis0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040282 - Frequent43
HP:0001488HP:0001488Bilateral ptosis0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0001488HP:0001488Bilateral ptosis0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0001488HP:0001488Bilateral ptosis0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0001488HP:0001488Bilateral ptosis0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent110
HP:0001488HP:0001488Bilateral ptosis0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0001488HP:0001488Bilateral ptosis0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0001488HP:0001488Bilateral ptosis0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0001488HP:0001488Bilateral ptosis0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0001488HP:0001488Bilateral ptosis0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0001488HP:0001488Bilateral ptosis0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0001488HP:0001488Bilateral ptosis0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0001488HP:0001488Bilateral ptosis0TYMS CL E G H729812441OMIM:6200401
HP:0001488HP:0001488Bilateral ptosis0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0001488HP:0001488Bilateral ptosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001488HP:0001488Bilateral ptosis0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0001488HP:0007911Congenital bilateral ptosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001488HP:0007911Congenital bilateral ptosis1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0001488HP:0007911Congenital bilateral ptosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (72) :ABCC8 ACBD5 ADNP AEBP1 ATP6V1B2 AUTS2 CDC42BPB CERT1 CHRNG CLCN3 COL25A1 COL2A1 COLQ DBH DGUOK DNM1L FLNA GCK GSN IDUA IGF1 INS ISCU KCNH1 KCNJ11 KDM1A KDM6A KIF21A KMT2D LAMB2 LRP12 MAF NAA10 NARS2 NDUFAF3 NDUFB8 NDUFS2 NGLY1 NOVA2 NRAS ODC1 OGDHL OPA1 PACS1 PAH PAX6 PDX1 PDZD8 PHOX2A PLEC POLG POLRMT RAD21 RNASEH1 RRM2B RYR1 SCO2 SETD5 SOS1 SPECC1L STAC3 STAT3 SURF1 TBC1D24 TK2 TUBA1A TUBB2B TUBB3 TYMS WT1 ZFHX4 ZNF407

Diseases (59) :ORPHA:79134 ORPHA:99885 OMIM:618863 ORPHA:404448 ORPHA:536532 OMIM:618000 ORPHA:79500 ORPHA:352490 OMIM:619841 OMIM:616351 OMIM:265000 OMIM:619512 ORPHA:91411 ORPHA:485 ORPHA:98915 ORPHA:230 ORPHA:329314 ORPHA:330050 ORPHA:555877 ORPHA:85448 OMIM:607014 ORPHA:73272 OMIM:255125 ORPHA:420561 OMIM:618856 ORPHA:477993 OMIM:147920 OMIM:135700 OMIM:164310 ORPHA:1272 OMIM:300855 ORPHA:70474 ORPHA:404454 OMIM:618859 OMIM:613224 ORPHA:544488 OMIM:619701 ORPHA:1215 ORPHA:329224 ORPHA:2209 OMIM:106210 OMIM:620021 OMIM:602078 ORPHA:254361 OMIM:258450 OMIM:619743 OMIM:614701 OMIM:611376 ORPHA:329336 OMIM:619542 ORPHA:404440 OMIM:610733 OMIM:145420 ORPHA:168572 ORPHA:254875 ORPHA:467166 ORPHA:300570 OMIM:620040 OMIM:619557
 

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