ASGD5
MCID: PTR006
MIFTS: 65

Peters Anomaly (ASGD5) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Peters Anomaly

Aliases & Descriptions for Peters Anomaly:

Name: Peters Anomaly 54 12 50 24 25 56 13 42 14
Peters Plus Syndrome 23 50 24 25 56
Krause-Kivlin Syndrome 50 25 56 69
Peters-Plus Syndrome 54 23 66 13
Peters Anomaly with Short Limb Dwarfism 50 56
Krause-Van Schooneveld-Kivlin Syndrome 25 56
Irido-Corneo-Trabecular Dysgenesis 25 29
Peters Congenital Glaucoma 25 56
Peters'-Plus Syndrome 25 29
Peters Anomaly-Short Limb Dwarfism Syndrome 25
Anterior Segment Dysgenesis 5 66
Peters' Plus Syndrome 25
Anomaly Peters 52
Asgd5 66
Ppls 66

Characteristics:

Orphanet epidemiological data:

56
peters anomaly
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
peters plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
peters-plus syndrome:
Inheritance autosomal recessive inheritance

peters anomaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060673
ICD10 33 Q13.4
Orphanet 56 ORPHA709 ORPHA708
ICD10 via Orphanet 34 Q13.4
MESH via Orphanet 43 C537884

Summaries for Peters Anomaly

UniProtKB/Swiss-Prot : 66 Anterior segment dysgenesis 5: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Peters-plus syndrome: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.

MalaCards based summary : Peters Anomaly, also known as peters plus syndrome, is related to aphakia, congenital primary and peters anomaly-cataract syndrome, and has symptoms including hypertelorism, frontal bossing and nystagmus. An important gene associated with Peters Anomaly is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Menthol and Aminocaproic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has material basis in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.

Genetics Home Reference : 25 Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.

NIH Rare Diseases : 50 peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. it may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities. the cause of peters anomaly is unknown; it may be caused by genetic factors (including alterations of several genes, like the foxc1, pax6, pitx2, or cyp1b1 genes, environmental factors, or both. the critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber. most cases of peters anomaly are sporadic or inherited in an autosomal recessive pattern. some few cases might be inherited in an autosomal dominant pattern. peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. peters anomaly is a feature of the krause-kivlin syndrome and the peters-plus syndrome. treatment depends on the problems that the patient has and may include glaucoma treatment or surgery to correct the cataracts or other lens abnormalities. last updated: 9/11/2015

Wikipedia : 71 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

Description from OMIM: 604229 261540
GeneReviews: NBK1464

Related Diseases for Peters Anomaly

Diseases related to Peters Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 aphakia, congenital primary 31.3 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 peters anomaly-cataract syndrome 11.9
3 anterior segment mesenchymal dysgenesis 10.9
4 corneal opacification and other ocular anomalies 10.9
5 iridogoniodysgenesis, type 2 10.9
6 iridogoniodysgenesis, type 1 10.9
7 branchiootic syndrome 1 10.9
8 anterior segment dysgenesis 8 10.9
9 kcnj10-related pendred syndrome 10.3 FOXC1 PAX6
10 scapuloperoneal syndrome, myopathic type 10.3 FOXC1 PITX2
11 hypotrichosis, congenital, with juvenile macular dystrophy 10.3 MAF PITX2
12 cardiac arrhythmia, ankyrin-b-related 10.3 FOXC1 PITX2
13 pituitary hormone deficiency, combined, 4 10.3 CYP1B1 MYOC
14 conjunctival folliculosis 10.3 CYP1B1 FOXC1 PITX2
15 orbital granuloma 10.3 FOXC1 PAX6 PITX2
16 cornea plana 10.3 FOXC1 PAX6 PITX2
17 cicatricial ectropion 10.2 B3GLCT HDAC9
18 hereditary xanthinuria 10.2 CYP1B1 MYOC PITX2
19 red-green color vision defects 10.2 CYP1B1 FOXC1 MYOC
20 skin granular cell tumor 10.2 FOXC1 HDAC9 PAX6 PITX2
21 lactocele 10.2 CYP1B1 MYOC TGFB2
22 opisthorchiasis 10.2 CYP1B1 MYOC
23 colorectal cancer 5 10.2 CYP1B1 MYOC TGFB2
24 cornelia de lange syndrome 5 10.2 CYP1B1 FOXE3 PAX6
25 chronic tympanitis 10.1 CYP1B1 FOXC1 HDAC9 MYOC
26 deafness, autosomal recessive 91 10.1 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
27 pseudopterygium 10.1 FOXE3 PAX6 PITX3
28 nevoid hypermelanosis, linear and whorled 10.1 CYP1B1 FOXC1 HDAC9 MYOC PITX2
29 meier-gorlin syndrome 1 10.0 FOXE3 HDAC9 PAX6 PITX3
30 ring dermoid of cornea 10.0 PAX6 PITX2 PITX3 SHOX
31 hypertrophy of breast 10.0 CYP1B1 FOXC1 MYOC PAX6 PITX2 TGFB2
32 hypervitaminosis d 10.0 MYOC PITX3
33 cataract 9.9
34 persistent hyperplastic primary vitreous 9.9
35 rippling muscle disease 2 9.9 FOXE3 PXDN
36 myopia 7 9.9 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
37 lymphoma 9.9
38 retinitis 9.8
39 chorioretinitis 9.8
40 sclerocornea 9.8
41 aniridia 9.8
42 corneal staphyloma 9.8
43 hypothyroidism 9.8
44 hydrocephalus 9.8
45 hypoplastic left heart syndrome 9.8
46 congenital hypothyroidism 9.8
47 encephalocele 9.8
48 cri-du-chat syndrome 9.7
49 unilateral retinoblastoma 9.7
50 wagr syndrome 9.7

Graphical network of the top 20 diseases related to Peters Anomaly:



Diseases related to Peters Anomaly

Symptoms & Phenotypes for Peters Anomaly

Symptoms by clinical synopsis from OMIM:

261540

Clinical features from OMIM:

604229 261540

Human phenotypes related to Peters Anomaly:

56 32 (show top 50) (show all 114)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 frontal bossing 56 32 Frequent (79-30%) HP:0002007
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
6 cataract 56 32 Frequent (79-30%) HP:0000518
7 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 56 32 Occasional (29-5%) HP:0005280
9 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
10 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
11 short nose 56 32 Occasional (29-5%) HP:0003196
12 microcephaly 56 32 Occasional (29-5%) HP:0000252
13 anteverted nares 56 32 Occasional (29-5%) HP:0000463
14 visual impairment 56 32 Occasional (29-5%) HP:0000505
15 optic atrophy 56 32 Occasional (29-5%) HP:0000648
16 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
17 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
18 prominent forehead 56 32 Frequent (79-30%) HP:0011220
19 cleft palate 56 32 Frequent (79-30%) HP:0000175
20 long philtrum 56 32 Very frequent (99-80%) HP:0000343
21 micrognathia 56 32 Very frequent (99-80%) HP:0000347
22 micromelia 56 32 Very frequent (99-80%) HP:0002983
23 short foot 56 32 Very frequent (99-80%) HP:0001773
24 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
25 wide intermamillary distance 56 32 Occasional (29-5%) HP:0006610
26 webbed neck 56 32 Frequent (79-30%) HP:0000465
27 short toe 56 32 Very frequent (99-80%) HP:0001831
28 anterior hypopituitarism 56 32 Occasional (29-5%) HP:0000830
29 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
30 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
31 wide mouth 56 32 Occasional (29-5%) HP:0000154
32 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
33 hypospadias 56 32 Frequent (79-30%) HP:0000047
34 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
35 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
36 glaucoma 56 32 Very frequent (99-80%) HP:0000501
37 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
38 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
39 conductive hearing impairment 56 32 Occasional (29-5%) HP:0000405
40 upslanted palpebral fissure 56 32 Frequent (79-30%) HP:0000582
41 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
42 anal atresia 56 32 Occasional (29-5%) HP:0002023
43 round face 56 32 Very frequent (99-80%) HP:0000311
44 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
45 thin upper lip vermilion 56 32 Very frequent (99-80%) HP:0000219
46 sacral dimple 56 32 Occasional (29-5%) HP:0000960
47 pulmonic stenosis 56 32 Frequent (79-30%) HP:0001642
48 abnormality of the cardiac septa 56 32 Frequent (79-30%) HP:0001671
49 spina bifida occulta 56 32 Occasional (29-5%) HP:0003298
50 disproportionate short-limb short stature 56 32 Very frequent (99-80%) HP:0008873

UMLS symptoms related to Peters Anomaly:


seizures

MGI Mouse Phenotypes related to Peters Anomaly:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 PAX6 PITX2 PITX3 PXDN RBL2 SOX3
2 growth/size/body region MP:0005378 10.2 EXT1 EYA1 FOXC1 HDAC9 MAF PAX6
3 craniofacial MP:0005382 10.16 EXT1 EYA1 FOXC1 MAF PAX6 PITX2
4 nervous system MP:0003631 10.11 EXT1 EYA1 FOXC1 MAF PAX6 PITX2
5 embryo MP:0005380 10.1 EXT1 EYA1 FOXC1 PAX6 PITX2 RBL2
6 endocrine/exocrine gland MP:0005379 10.08 EYA1 FOXC1 PAX6 PITX2 PITX3 RBL2
7 muscle MP:0005369 9.95 TGFB2 EYA1 FOXC1 HDAC9 PAX6 PITX2
8 limbs/digits/tail MP:0005371 9.91 EXT1 FOXC1 PITX2 PXDN RBL2 TGFB2
9 reproductive system MP:0005389 9.86 EYA1 FOXC1 PAX6 PITX2 PITX3 RBL2
10 pigmentation MP:0001186 9.72 FOXC1 PAX6 PITX2 PITX3 PXDN
11 respiratory system MP:0005388 9.7 EYA1 FOXC1 PAX6 PITX2 PITX3 RBL2
12 skeleton MP:0005390 9.61 SOX3 TGFB2 EXT1 EYA1 FOXC1 PAX6
13 vision/eye MP:0005391 9.4 TGFB2 CYP1B1 EXT1 EYA1 FOXC1 MAF

Drugs & Therapeutics for Peters Anomaly

Drugs for Peters Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 347)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 4 2216-51-5 16666
2
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
3
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
4
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
5
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 1 147127-20-6 464205
6
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
7
Bosentan Approved, Investigational Phase 4,Phase 3 147536-97-8 104865
8
Bevacizumab Approved, Investigational Phase 4,Phase 1,Phase 2 216974-75-3
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10
Ticagrelor Approved Phase 4 274693-27-5 9871419
11
Ticlopidine Approved Phase 4 55142-85-3 5472
12
Warfarin Approved Phase 4 81-81-2 6691 54678486
13
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
14 Antifibrinolytic Agents Phase 4
15 Coagulants Phase 4
16 Hemostatics Phase 4
17 Anti-HIV Agents Phase 4,Phase 3,Phase 2
18 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
20 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Lamivudine, zidovudine drug combination Phase 4
22 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
23 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2
24 Antihypertensive Agents Phase 4,Phase 3
25 Endothelin Receptor Antagonists Phase 4,Phase 3
26 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
27 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Analgesics Phase 4,Phase 3,Phase 2
29 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
30 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
31 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
32 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
35 Platelet Aggregation Inhibitors Phase 4,Phase 3
36 Antipyretics Phase 4
37 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3
38 Fibrinolytic Agents Phase 4
39 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
40 Purinergic P2 Receptor Antagonists Phase 4
41 Purinergic P2Y Receptor Antagonists Phase 4
42
Cobicistat Approved Phase 3 1004316-88-4
43
Maraviroc Approved, Investigational Phase 3 376348-65-1 3002977
44
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
45
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
46
Cytarabine Approved, Investigational Phase 3,Phase 2 147-94-4 6253
47
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
48
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
49
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
50
Didanosine Approved Phase 3,Phase 2 69655-05-6 50599

Interventional clinical trials:

(show top 50) (show all 175)
id Name Status NCT ID Phase
1 The 3DKnee™ System: A Post-Market Study Completed NCT00764673 Phase 4
2 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4
3 Should my New Knee Rotate? Completed NCT02892838 Phase 4
4 PREventing Progression of Adipose Tissue Redistribution Completed NCT00389194 Phase 4
5 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4
6 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4
7 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4
8 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4
9 Diindolylmethane in Treating Patients With Abnormal Cervical Cells Completed NCT00462813 Phase 3
10 Randomized Trial of a Nutritional Supplement in Alzheimer's Disease Completed NCT00678431 Phase 3
11 Open-Label Pilot Study to Evaluate Switching From a Regimen Consisting of Raltegravir Plus Emtricitabine/Tenofovir DF Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Completed NCT01533259 Phase 3
12 Efficacy and Safety of Oral Bosentan on Healing/Prevention of Digital (Finger) Ulcers in Patients With Scleroderma Completed NCT00077584 Phase 3
13 Expanded Access Program for Maraviroc At Multiple Centers Completed NCT00426660 Phase 3
14 Axitinib (AG 013736) As Second Line Therapy For Metastatic Renal Cell Cancer Completed NCT00678392 Phase 3
15 S0106 Cytarabine and Daunorubicin w/ or w/o Gemtuzumab Followed By HD Cytarabine and Either Gemtuzumab or Nothing in de Novo AML Completed NCT00085709 Phase 3
16 Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment Completed NCT01363011 Phase 3
17 Phase 3 Study of Sofosbuvir and Ribavirin Completed NCT01497366 Phase 3
18 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
19 A Phase 3 Study to Evaluate Combination Therapy With Daclatasvir and Sofosbuvir in the Treatment of HIV and Hepatitis C Virus Coinfection. Completed NCT02032888 Phase 3
20 Study of Asimadoline to Treat Diarrhea-Predominant Irritable Bowel Syndrome (D-IBS) Completed NCT01100684 Phase 3
21 UNITY 1: A Study of an Investigational Treatment Regimen of Daclatasvir (DCV) + Asunaprevir (ASV) + BMS-791325 in a Fixed Dose Combination (the DCV 3DAA (Direct Acting Antiviral) Regimen) for 12 Weeks for the Treatment of Chronic Hepatitis C Virus (HCV) G Completed NCT01979939 Phase 3
22 Study to Determine Efficacy and Safety of Lenalidomide Plus Low-dose Dexamethasone Versus Melphalan, Prednisone, Thalidomide in Patients With Previously Untreated Multiple Myeloma Completed NCT00689936 Phase 3
23 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3
24 A Study of the Efficacy and Safety of Pregabalin as Add-On Therapy for Partial Onset Seizures in Children Ages 4-16 Years Completed NCT01389596 Phase 3
25 Blood Pressure, Cerebral Blood Flow and Cognition in Spinal Cord Injury Recruiting NCT02307565 Phase 3
26 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
27 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3
28 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
29 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
30 NBTXR3 Crystalline Nanoparticles and Radiation Therapy in Treating and Randomized Patients in Two Arms With Soft Tissue Sarcoma of the Extremity and Trunk Wall Recruiting NCT02379845 Phase 2, Phase 3
31 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
32 Study of Chemotherapy in Combination With All-trans Retinoic Acid (ATRA) With or Without Gemtuzumab Ozogamicin in Patients With Acute Myeloid Leukemia (AML) and Mutant Nucleophosmin-1 (NPM1) Gene Mutation Recruiting NCT00893399 Phase 3
33 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL Recruiting NCT03019185 Phase 2, Phase 3
34 The Testosterone Trial in Older Men Active, not recruiting NCT00799617 Phase 3
35 Clinical Study to Assess the Long-term Safety and Tolerability of ACT 064992 in Patients With Symptomatic Pulmonary Arterial Hypertension Active, not recruiting NCT00667823 Phase 3
36 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3
37 Empirical Versus Preemptive Antifungal Therapy Active, not recruiting NCT01288378 Phase 3
38 Caspofungin Acetate or Fluconazole in Preventing Invasive Fungal Infections in Patients With Acute Myeloid Leukemia Who Are Undergoing Chemotherapy Active, not recruiting NCT01307579 Phase 3
39 Open-label Safety Study of E/C/F/TAF (Genvoya®) in HIV-1 Positive Patients With Mild to Moderate Renal Impairment Active, not recruiting NCT01818596 Phase 3
40 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
41 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Not yet recruiting NCT03179631 Phase 3
42 Ponatinib for Squamous Cell Lung and Head and Neck Cancers Terminated NCT01761747 Phase 2, Phase 3
43 Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 Phase 3
44 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
45 Treatment of Parkinson Disease and Multiple System Atrophy Using Intranasal Insulin. Completed NCT02064166 Phase 2
46 Erythropoietin Therapy for Subarachnoid Hemorrhage Completed NCT00140010 Phase 2
47 Imaging in MGUS, SMM and MM Completed NCT01237054 Phase 2
48 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
49 Lenalidomide in Treating Older Patients With Acute Myeloid Leukemia Completed NCT00352365 Phase 2
50 Study of Mapatumumab in Combination With Bortezomib (Velcade) and Bortezomib Alone in Subjects With Relapsed or Refractory Multiple Myeloma Completed NCT00315757 Phase 2

Search NIH Clinical Center for Peters Anomaly

Cochrane evidence based reviews: peters anomaly

Genetic Tests for Peters Anomaly

Genetic tests related to Peters Anomaly:

id Genetic test Affiliating Genes
1 Irido-Corneo-Trabecular Dysgenesis 29
2 Peters Plus Syndrome 29 24 B3GLCT
3 Peters Anomaly 29 24 PITX2 CYP1B1 PAX6

Anatomical Context for Peters Anomaly

MalaCards organs/tissues related to Peters Anomaly:

39
Eye, Bone, Skin, Kidney, Uterus

Publications for Peters Anomaly

Articles related to Peters Anomaly:

(show top 50) (show all 71)
id Title Authors Year
1
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. ( 28529272 )
2017
2
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
3
Long-Term Clinical Course in Eyes With Peters Anomaly. ( 28207433 )
2017
4
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. ( 27218149 )
2016
5
Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities. ( 27843434 )
2016
6
8q21.11 microdeletion in two patients with syndromic peters anomaly. ( 27378168 )
2016
7
Optimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography. ( 27660330 )
2016
8
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
9
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. ( 26684045 )
2016
10
Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2). ( 25727582 )
2015
11
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
12
A Case of WAGR Syndrome with Peters' Anomaly. ( 25902081 )
2015
13
Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly. ( 26177727 )
2015
14
Incidence of peters anomaly and congenital opacity. ( 25474236 )
2015
15
Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2. ( 26703482 )
2015
16
A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review. ( 26496717 )
2015
17
Peters Anomaly. ( 26711294 )
2015
18
Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. ( 24977984 )
2014
19
Intravitreal Injection of Bevacizumab for Retinopathy of Prematurity in an Infant with Peters Anomaly. ( 25408672 )
2014
20
Whole exome sequence analysis of Peters anomaly. ( 25182519 )
2014
21
Peters anomaly in a red kangaroo (Macropus rufus). ( 25314851 )
2014
22
Peters' anomaly imaged with an infrared anterior segment camera. ( 23927449 )
2014
23
Long-term visual outcomes of penetrating keratoplasty for Peters anomaly. ( 23052716 )
2013
24
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. ( 24104853 )
2013
25
A simple and easy method using rigid endoscope to detect iridocorneal and keratolenticular adhesions in peters' anomaly. ( 24348409 )
2013
26
Spontaneous corneal perforation in an eye with Peters' anomaly. ( 23990702 )
2013
27
Peters' anomaly. ( 23650461 )
2013
28
Cataract surgery for tilted lens in peters' anomaly type 2. ( 24163681 )
2013
29
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. ( 23217015 )
2013
30
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. ( 24024747 )
2013
31
Posterior lamellar keratoplasty (DSAEK) in Peters anomaly. ( 22790185 )
2012
32
Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report. ( 22251706 )
2012
33
A case of aniridia with unilateral Peters anomaly. ( 21397818 )
2011
34
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. ( 21976945 )
2011
35
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma. ( 22606460 )
2011
36
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. ( 21150893 )
2011
37
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. ( 21067481 )
2010
38
Unilateral retinoblastoma in an eye with Peters anomaly. ( 20451864 )
2010
39
Classic galactosemia presenting with unilateral Peters' anomaly. ( 20516712 )
2010
40
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 19461663 )
2010
41
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. ( 20405024 )
2010
42
Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling. ( 19509472 )
2009
43
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. ( 18616618 )
2009
44
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. ( 18498376 )
2008
45
Anterior segment dysgenesis: Peters anomaly and sclerocornea. ( 18427259 )
2008
46
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. ( 17994562 )
2007
47
Further support of the role of CYP1B1 in patients with Peters anomaly. ( 16735991 )
2006
48
Corneal perforation with secondary congenital aphakia in Peters anomaly. ( 15604880 )
2005
49
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. ( 16250223 )
2005
50
A compound heterozygous change found in Peters' anomaly. ( 15682044 )
2005

Variations for Peters Anomaly

UniProtKB/Swiss-Prot genetic disease variations for Peters Anomaly:

66
id Symbol AA change Variation ID SNP ID
1 PAX6 p.Arg26Gly VAR_003810 rs121907913
2 PAX6 p.Val53Asp VAR_008700
3 PAX6 p.Ser363Pro VAR_017544

ClinVar genetic disease variations for Peters Anomaly:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 B3GLCT NM_194318.3(B3GLCT): c.660+1G> A single nucleotide variant Pathogenic rs80338851 GRCh37 Chromosome 13, 31843415: 31843415
2 B3GLCT NM_194318.3(B3GLCT): c.347+5G> A single nucleotide variant Pathogenic rs80338850 GRCh37 Chromosome 13, 31821241: 31821241
3 B3GLCT B3GALTL, IVS6, G-A, +1 single nucleotide variant Pathogenic
4 B3GLCT B3GALTL, 1-BP INS, 230T insertion Pathogenic
5 B3GLCT NM_194318.3(B3GLCT): c.1178G> A (p.Gly393Glu) single nucleotide variant Pathogenic rs267606675 GRCh37 Chromosome 13, 31891816: 31891816
6 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
7 B3GLCT NM_194318.3(B3GLCT): c.1098T> A (p.Tyr366Ter) single nucleotide variant Pathogenic rs80338852 GRCh37 Chromosome 13, 31891736: 31891736
8 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
9 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
10 B3GLCT NM_194318.3(B3GLCT): c.1067_1082del16 (p.Ile356Thrfs) deletion Pathogenic rs794727108 GRCh37 Chromosome 13, 31891705: 31891720
11 B3GLCT NM_194318.3(B3GLCT): c.1065-1G> A single nucleotide variant Pathogenic rs371904655 GRCh37 Chromosome 13, 31891702: 31891702
12 CYP1B1 NM_000104.3(CYP1B1): c.1063_1075delCGAGTGCAGGCAG (p.Arg355Asnfs) deletion Pathogenic GRCh37 Chromosome 2, 38298422: 38298434

Copy number variations for Peters Anomaly from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 76126 13 27800000 32900000 Deletion B3GALTL Peters Plus syndrome
2 76127 13 27800000 32900000 Deletion BRCA2 Peters Plus syndrome
3 76128 13 27800000 32900000 Deletion FRY Peters Plus syndrome
4 76129 13 27800000 32900000 Deletion HSPH1 Peters Plus syndrome
5 76130 13 27800000 32900000 Deletion LGR8 Peters Plus syndrome
6 76131 13 27800000 32900000 Deletion LOC196545 Peters Plus syndrome
7 76132 13 27800000 32900000 Deletion gene Peters Plus syndrome

Expression for Peters Anomaly

Search GEO for disease gene expression data for Peters Anomaly.

Pathways for Peters Anomaly

Pathways related to Peters Anomaly according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 EXT1 FOXC1 PAX6 PITX2

GO Terms for Peters Anomaly

Cellular components related to Peters Anomaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.92 FOXE3 HDAC9 PITX2 RBL2

Biological processes related to Peters Anomaly according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 FOXC1 MAF PAX6 TGFB2
2 transcription from RNA polymerase II promoter GO:0006366 9.91 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
3 brain development GO:0007420 9.89 EXT1 FOXC1 PAX6 PITX2
4 heart development GO:0007507 9.88 FOXC1 HDAC9 PITX2 TGFB2
5 skeletal system development GO:0001501 9.81 EXT1 FOXC1 SHOX TGFB2
6 animal organ morphogenesis GO:0009887 9.78 EYA1 PAX6 PITX2 PITX3
7 blood vessel development GO:0001568 9.71 FOXC1 PAX6 TGFB2
8 cell development GO:0048468 9.7 FOXE3 MAF TGFB2
9 collagen fibril organization GO:0030199 9.67 CYP1B1 FOXC1 TGFB2
10 pituitary gland development GO:0021983 9.63 PAX6 PITX2 SOX3
11 negative regulation of neurogenesis GO:0050768 9.62 PAX6 PITX3
12 camera-type eye development GO:0043010 9.62 FOXC1 FOXE3 PAX6 PITX2
13 establishment of mitotic spindle orientation GO:0000132 9.61 EYA1 PAX6
14 cardiac muscle cell proliferation GO:0060038 9.61 FOXC1 TGFB2
15 lens fiber cell differentiation GO:0070306 9.6 MAF PITX3
16 salivary gland morphogenesis GO:0007435 9.58 PAX6 TGFB2
17 cornea development in camera-type eye GO:0061303 9.57 FOXE3 PAX6
18 lacrimal gland development GO:0032808 9.56 FOXC1 PAX6
19 trabecular meshwork development GO:0002930 9.43 CYP1B1 FOXE3
20 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
21 lens development in camera-type eye GO:0002088 9.26 FOXE3 MAF PAX6 PITX3
22 eye development GO:0001654 9.02 CPAMD8 FOXC1 FOXE3 PAX6 TGFB2
23 transcription, DNA-templated GO:0006351 10.14 EYA1 FOXC1 FOXE3 HDAC9 MAF PAX6
24 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.09 EYA1 FOXC1 MAF PAX6 PITX2 PITX3
25 regulation of transcription, DNA-templated GO:0006355 10.03 EYA1 FOXC1 FOXE3 HDAC9 MAF PAX6
26 positive regulation of transcription, DNA-templated GO:0045893 10.02 EYA1 FOXC1 PAX6 PITX2 PITX3

Molecular functions related to Peters Anomaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.8 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3
3 transcription factor binding GO:0008134 9.67 FOXC1 HDAC9 PAX6 PITX2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.62 FOXC1 FOXE3 PAX6 PITX2
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.26 FOXC1 MAF PAX6 SHOX
6 sequence-specific DNA binding GO:0043565 9.17 FOXC1 FOXE3 MAF PAX6 PITX2 PITX3

Sources for Peters Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....