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CATLPH
MCID: CHN040
MIFTS: 36

Choanal Atresia and Lymphedema (CATLPH)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Choanal Atresia and Lymphedema

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MalaCards integrated aliases for Choanal Atresia and Lymphedema:

Name: Choanal Atresia and Lymphedema 56 73 36 29 13 6 39
Catlph 56 73
Lymphedema-Posterior Choanal Atresia Syndrome 58
Lymphedema 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of edema in infancy or childhood


HPO:

31
choanal atresia and lymphedema:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Smell/Taste diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613611
KEGG 36 H01017
ICD10 via Orphanet 33 Q82.0
Orphanet 58 ORPHA99141
MedGen 41 C3150875
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Summaries for Choanal Atresia and Lymphedema

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KEGG : 36 Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of chanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis.

MalaCards based summary : Choanal Atresia and Lymphedema, also known as catlph, is related to lymphedema-distichiasis syndrome and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). The drugs Tacrolimus and Bacitracin have been mentioned in the context of this disorder. Affiliated tissues include breast, lymph node and skin, and related phenotypes are high palate and lymphedema

UniProtKB/Swiss-Prot : 73 Choanal atresia and lymphedema: A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum.

More information from OMIM: 613611
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Related Diseases for Choanal Atresia and Lymphedema

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Diseases related to Choanal Atresia and Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 582)
# Related Disease Score Top Affiliating Genes
1 lymphedema-distichiasis syndrome 12.8
2 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.7
3 hypotrichosis-lymphedema-telangiectasia syndrome 12.7
4 hereditary lymphedema ii 12.7
5 hennekam lymphangiectasia-lymphedema syndrome 1 12.7
6 lymphedema, primary, with myelodysplasia 12.6
7 cholestasis-lymphedema syndrome 12.6
8 hennekam lymphangiectasia-lymphedema syndrome 2 12.6
9 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.6
10 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.6
11 hennekam lymphangiectasia-lymphedema syndrome 3 12.6
12 hereditary lymphedema i 12.6
13 hereditary lymphedema 12.5
14 lymphedema-hypoparathyroidism syndrome 12.5
15 lymphatic malformation 1 12.5
16 lymphedema and cerebral arteriovenous anomaly 12.4
17 hereditary lymphedema id 12.4
18 lymphatic malformation 5 12.4
19 hereditary lymphedema ic 12.3
20 hereditary lymphedema ia 12.3
21 hennekam syndrome 12.3
22 primary lymphedema 12.3
23 lymphedema, cardiac septal defects, and characteristic facies 12.3
24 congenital lymphedema 12.3
25 hereditary lymphedema ib 12.3
26 yellow nail syndrome 12.3
27 agenesis of the corpus callosum and congenital lymphedema 12.2
28 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 12.2
29 lymphatic malformation 3 12.2
30 lymphatic malformation 4 12.1
31 congenital primary lymphedema of gordon 12.1
32 congenital primary lymphedema without systemic or visceral involvement 12.0
33 late-onset primary lymphedema without systemic or visceral involvement 12.0
34 genetic primary lymphedema 12.0
35 obsolete: primary lymphedema with associated anomalies 12.0
36 primary lymphedema without systemic or visceral involvement 12.0
37 obsolete: lymphedema tarda 12.0
38 obsolete: lymphedema praecox 12.0
39 celsr1-related late-onset primary lymphedema 12.0
40 disorder with multisystemic involvement and primary lymphedema 12.0
41 primary lymphedema with systemic or visceral involvement 12.0
42 gjc2-related late-onset primary lymphedema 12.0
43 obsolete: lymphedema-cleft palate syndrome 12.0
44 obsolete: mandibulofacial dysostosis-lymphedema syndrome 12.0
45 microcephaly-cutis verticis gyrata-lymphedema syndrome 12.0
46 lymphangiosarcoma 12.0
47 lymphatic malformation 6 12.0
48 lymphatic malformation 2 11.9
49 takenouchi-kosaki syndrome 11.7
50 filarial elephantiasis 11.7

Graphical network of the top 20 diseases related to Choanal Atresia and Lymphedema:



Diseases related to Choanal Atresia and Lymphedema
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Symptoms & Phenotypes for Choanal Atresia and Lymphedema

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Human phenotypes related to Choanal Atresia and Lymphedema:

31
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 lymphedema 31 HP:0001004
3 choanal atresia 31 HP:0000453
4 pericardial effusion 31 HP:0001698

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
choanal atresia

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
pericardial effusion

Muscle Soft Tissue:
lymphedema, lower extremities

Clinical features from OMIM:

613611
Sources

Drugs & Therapeutics for Choanal Atresia and Lymphedema

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Drugs for Choanal Atresia and Lymphedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
2
Bacitracin Approved, Vet_approved Phase 2, Phase 3 1405-87-4 439542 10909430
3
Polymyxin B Approved, Vet_approved Phase 2, Phase 3 1404-26-8
4
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
5 Fibrin Tissue Adhesive Phase 3
6 Hemostatics Phase 3
7 Coagulants Phase 3
8 Polymyxins Phase 2, Phase 3
9 Calcineurin Inhibitors Phase 2, Phase 3
10 Anti-Infective Agents, Local Phase 2, Phase 3
11 Gramicidin Phase 2, Phase 3
12 Omega 3 Fatty Acid Phase 3
13 Antiparasitic Agents Phase 3
14 Antiprotozoal Agents Phase 3
15 Antimalarials Phase 3
16
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
17
Selenious acid Approved, Investigational Phase 2 7783-00-8
18
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
19
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
20
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
21
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
22
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
23
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
24
Propranolol Approved, Investigational Phase 2 525-66-6 4946
25
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
Methylene blue Approved, Investigational Phase 2 61-73-4
29
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
30
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
31 Kava Approved, Investigational, Nutraceutical Phase 1, Phase 2 9000-38-8
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
33
Ubenimex Investigational Phase 2 58970-76-6
34
Horse chestnut Experimental Phase 2
35 Tocotrienol Investigational Phase 2 6829-55-6
36 Antioxidants Phase 2
37 Platelet Aggregation Inhibitors Phase 2
38 Adjuvants, Immunologic Phase 2
39 Protective Agents Phase 2
40 Pycnogenols Phase 2
41 HIV Protease Inhibitors Phase 2
42
protease inhibitors Phase 2
43 Anti-HIV Agents Phase 2
44 Endothelial Growth Factors Phase 2
45 Mitogens Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Sodium Selenite Phase 2
48 Vitamins Phase 2
49 Tocopherols Phase 2
50 Free Radical Scavengers Phase 2

Interventional clinical trials:

(show top 50) (show all 396)
# Name Status NCT ID Phase Drugs
1 Low Level Laser Treatment and Breast Cancer Related Lymphedema Completed NCT00852930 Phase 4
2 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
3 Prospective, Randomized Controlled Trial Comparing the Effect of CircAid(R) Juxta-Fit(tm) Versus Trico Bandages in the Treatment of Leg Lymphedema Completed NCT01068431 Phase 4
4 A Randomized Control Trial for Lymphocele and Lymphorrhea Control Following Inguinal and Axillary Radical Lymph Node Dissection Completed NCT02476357 Phase 4
5 Prospective, Randomized Controlled Trial Comparing the Effect of a Non-elastic Compression Device Juxta Reduction Kit (Medi ®)" Versus Elastic Class 1 Stockings (BSN Medical® in Patients Undergoing Total Knee Arthroplasty Completed NCT02375945 Phase 4
6 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
7 Individualisation du Drainage Lymphatique Des Membres inférieurs Lors du Curage Pelvien Pour Cancer gynécologique Active, not recruiting NCT01946672 Phase 4
8 Standardization of Indocyanine Green Lymphography Protocol With Exercise for Lymphedema Assessment Enrolling by invitation NCT03584633 Phase 4 Indocyanine Green
9 Use of Pulsed Electromagnetic Fields in Reducing Arm and Shoulder Complaints in Breast Cancer Patients After Lymph Node Dissection Terminated NCT01255631 Phase 4
10 A Randomized Trial of the Flexitouch Compression System as an Adjunctive Treatment for Venous Stasis Ulcer Terminated NCT00534937 Phase 4
11 Randomized Trial of Pelvic and Lower Extremity Exercise in Patients Who Underwent Pelvic Lymphadenectomy With Lower Extremity Edema-related Symptoms Unknown status NCT01849224 Phase 3
12 A Randomized Trial to Determine the Impact of Lymphedema Therapy on Quality of Life and Disease Severity in Patients With Post-Thrombotic Syndrome Unknown status NCT00633971 Phase 3
13 Prospective Randomized Study Comparing Mastectomy Outcomes With Versus Without the Application of Autologous Blood Products to the Surgical Site Unknown status NCT00802477 Phase 3
14 A Randomized Study to Prevent Lymphedema in Women Treated for Breast Cancer Completed NCT00376597 Phase 3
15 Lymphedema Treatment of Post-surgical Upper Limb of Breast Cancer Through Muscle Strengthening Associated With Complex Physical Therapy Completed NCT02574780 Phase 2, Phase 3
16 A Phase III Clinical Trial Use of TISSEEL VH Fibrin Sealant to Reduce Lymphedema Incidence After Inguinal Lymph Node Dissection Performed in the Management of Vulvar Malignancies Completed NCT00028951 Phase 3 fibrin sealant
17 DELTA - A Randomized Trial of Decongestive Lymphatic Therapy for Lymphedema in Women With Breast Cancer Completed NCT00201890 Phase 3
18 Individualisation of the Lymphatic Arm Drainage During Axillary Dissection for Breast Carcinomas. Completed NCT01146158 Phase 3
19 Does Scar Tissue Massage Improve Postoperative Pain and Function in Women With Breast Cancer? A Randomized Controlled Study. Completed NCT00175344 Phase 3
20 Efficacy of a Fibrin Sealant (Tissucol Duo®) for the Prevention of Lymphocele After Laparoscopic Pelvic Lymphadenectomy Due to Gynaecological Cancer: a Randomised Controlled Trial Completed NCT03914963 Phase 3
21 A Collagen-Fibrin Patch (Tachosil®) for the Prevention of Symptomatic Lymphoceles After Pelvic Lymphadenectomy in Women With Gynecologic Malignancies: a Randomized Clinical Trial Completed NCT01470677 Phase 3 Tachosil fibrin patch
22 Treatment of Breast Cancer-related Lymphedema With Stem Cells and Fat Grafting Recruiting NCT03776721 Phase 3
23 ARM: Axillary Reverse Mapping - A Prospective Trial to Study Rates of Lymphedema and Regional Recurrence After Sentinel Lymph Node Biopsy and Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Dissection With and Without Axillary Reverse Mapping Recruiting NCT03927027 Phase 3 Isosulfan Blue
24 Malar Bags After Lower Lid Blepharoplasty and Facelift: A Randomized Controlled Trial of the Effects of Tacrolimus Recruiting NCT03715387 Phase 2, Phase 3 Tacrolimus Topical 0.1% Topical Ointment;Polysporin Ointment
25 RT CHARM: Phase III Randomized Trial of Hypofractionated Post Mastectomy Radiation With Breast Reconstruction Recruiting NCT03414970 Phase 3
26 Evaluating the Use of Enhanced Recovery Preoperative Immunonutrition and Carbohydrate Loading Strategies in Immediate Autologous and Alloplastic Breast Reconstruction Recruiting NCT03764943 Phase 3
27 Inguinal or Ilio-inguinal Lymphadenectomy for Patients With Metastatic Melanoma to Groin Lymph Nodes and no Evidence of Pelvic Disease on PET/CT Scan - A Randomised Phase III Trial (EAGLE FM) Recruiting NCT02166788 Phase 3
28 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929134 Phase 3 Doxycycline;Placebo
29 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929121 Phase 3 Doxycycline;Placebo
30 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02927496 Phase 3 Doxycycline;Placebo
31 A Phase III Randomised Clinical Trial Comparing Sentinel Node Biopsy With No Retroperitoneal Node Dissection in Apparent Early-Stage Endometrial Cancer Not yet recruiting NCT04073706 Phase 3
32 A Prospective Randomized Single Blind Phase III Trial Comparing Flexitouch Home Maintenance Therapy to Standard Home Maintenance Therapy for Lower Extremity Lymphedema Resulting From Treatment of Gynecologic Malignancy Terminated NCT00577317 Phase 3
33 Fat Grafting Used for the Treatment of Breast Cancer Related Lymphedema in China Unknown status NCT02981485 Phase 2
34 A Limited Access Phase II Trial Utilizing Bioimpedance to Measure Lower Extremity Lymphedema Associated With the Surgical Management of a Vulvar Cancer Unknown status NCT01406769 Phase 2
35 Treatment of Breast Cancer Related Lymphedema With Cell-assisted Lipotransfer Unknown status NCT02592213 Phase 2
36 Randomized Phase II Trial Of Hyperbaric Oxygen Therapy In Patients With Chronic Arm Lymphoedema After Radiotherapy For Cancer Unknown status NCT00077090 Phase 2 hyperbaric oxygen
37 Therapeutical Assessment of Compression Armsleeves for Lymphatic Indications (Therapeutische Bewertung Von Armkompressionsstrümpfen für Lymphatische Indikationen BF09-PH-01) Unknown status NCT01318785 Phase 2
38 Treatment of Lymphedema- Application of the Kinesio Taping Unknown status NCT00155220 Phase 2
39 Axillary Reverse Mapping in Breast Cancer Unknown status NCT01038908 Phase 2
40 Efficacy Study of a Peristaltic Pulse Pneumatic Device in the Treatment of Claudication Unknown status NCT01007604 Phase 2
41 Lymphadenectomy After Neo-Adjuvant Chemotherapy in Ovarian Neoplasm Unknown status NCT01724944 Phase 1, Phase 2
42 Treatment of Arm Lymphedema in Breast Cancer Survivors: A Double-Blind, Randomized Study of Pycnogenol vs. Placebo Completed NCT00214032 Phase 2 Pycnogenol;Placebo
43 Ubenimex in Adult Patients With Lymphedema of The Lower Limb: a Phase 2, RAndomized, Double-blind, Placebo-controlled Study of Efficacy, Safety, and Pharmacokinetics (ULTRA) Completed NCT02700529 Phase 2 ubenimex
44 A Single-blind, Randomized Trial of Horse Chestnut Seed Extract for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00213928 Phase 2 Horse Chestnut Seed Extract
45 Pycnogenol for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00064857 Phase 2 Pycnogenol
46 Acupuncture for the Treatment of Chronic Lymphedema: A Feasibility Study Completed NCT01003951 Phase 2
47 A Phase II Study of VEGF Inhibition in Patients With Unilateral Upper Extremity Lymphedema Following Treatment for Cancer Completed NCT00827372 Phase 2 Pazopanib
48 A Randomized Phase II Placebo-controlled Double Blind Study of Using Selenium in the Treatment of Secondary Lymphedema in Breast Cancer Patients Completed NCT00188604 Phase 2 sodium selenite
49 The Effect of Combined Decongestive Therapy and Pneumatic Compression Pump on Body Image in Patients With Lymphedema Secondary to Breast Cancer Treatment Completed NCT02650297 Phase 1, Phase 2
50 Acupuncture for Chronic Lymphedema: A Randomized Wait-list Controlled Trial Completed NCT01706081 Phase 2

Search NIH Clinical Center for Choanal Atresia and Lymphedema

Cochrane evidence based reviews: lymphedema

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Genetic Tests for Choanal Atresia and Lymphedema

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Genetic tests related to Choanal Atresia and Lymphedema:

# Genetic test Affiliating Genes
1 Choanal Atresia and Lymphedema 29 PTPN14
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Anatomical Context for Choanal Atresia and Lymphedema

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MalaCards organs/tissues related to Choanal Atresia and Lymphedema:

40
Breast, Lymph Node, Skin, Endothelial, Heart, Testes, Lung
Sources

Publications for Choanal Atresia and Lymphedema

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Articles related to Choanal Atresia and Lymphedema:

# Title Authors PMID Year
1
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. 56 6
20826270 2010
2
Choanal atresia and lymphedema. 61 56
1872518 1991
3
Inheritance of posterior choanal atresia. 56
7158640 1982
Sources

Variations for Choanal Atresia and Lymphedema

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ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN14 PTPN14, 2,016-BP DELdeletion Pathogenic 6620
2 PTPN14 NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)insertion Pathogenic 599260 rs1558092113 1:214588012-214588013 1:214414669-214414670
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Expression for Choanal Atresia and Lymphedema

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Search GEO for disease gene expression data for Choanal Atresia and Lymphedema.
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Pathways for Choanal Atresia and Lymphedema

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GO Terms for Choanal Atresia and Lymphedema

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Sources for Choanal Atresia and Lymphedema

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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