BPS
MCID: BRT059
MIFTS: 55

Bartsocas-Papas Syndrome (BPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Bartsocas-Papas Syndrome

MalaCards integrated aliases for Bartsocas-Papas Syndrome:

Name: Bartsocas-Papas Syndrome 57 73 58 72 29 6
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 57 20 39
Popliteal Pterygium Syndrome, Lethal Type 57 72 70
Multiple Pterygium Syndrome, Aslan Type 57 20 72
Bps 57 20 72
Popliteal Pterygium Syndrome Lethal Type 73 20
Autosomal Recessive Popliteal Pterygium Syndrome 58
Lethal-Type Popliteal Pterygium Syndrome 36
Lethal Popliteal Pterygium Syndrome 58
Pterygium, Popliteal, Lethal Type 57
Pterygium Popliteal Lethal Type 20
Bartsocas Papas Syndrome 20
Pterygium 44

Characteristics:

Orphanet epidemiological data:

58
bartsocas-papas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neonatal/infantile death in most patients


HPO:

31
bartsocas-papas syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Bartsocas-Papas Syndrome

KEGG : 36 Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more severe phenotype than that associated with the autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or neonatal lethality, although, in the latter case, survival into childhood and beyond has been reported. It has been shown that recessive mutations in RIPK4 cause LPPS.

MalaCards based summary : Bartsocas-Papas Syndrome, also known as popliteal pterygium syndrome, bartsocas-papas type, is related to van der woude syndrome 1 and chromosome 2q35 duplication syndrome. An important gene associated with Bartsocas-Papas Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and NF-kappaB Signaling. The drugs Hyaluronic acid and Bromfenac have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and heart, and related phenotypes are synostosis of joints and microcephaly

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1234 Definition Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

OMIM® : 57 Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). A less severe form of popliteal pterygium syndrome (119500) is caused by mutation in the IRF6 gene (607199). (263650) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Bartsocas-Papas syndrome: An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.

Wikipedia : 73 Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Related Diseases for Bartsocas-Papas Syndrome

Diseases related to Bartsocas-Papas Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 327)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 1 30.8 TP63 RIPK4 IRF6
2 chromosome 2q35 duplication syndrome 30.5 TP63 IRF6
3 cleft lip 30.4 TP63 IRF6
4 cleft lip/palate 30.4 TP63 IRF6
5 popliteal pterygium syndrome 30.3 RIPK4 IRF6
6 multiple pterygium syndrome, escobar variant 30.0 RIPK4 IRF6
7 cleft palate, isolated 29.7 TP63 IRF6
8 ankyloblepharon-ectodermal defects-cleft lip/palate 29.5 TP63 RIPK4 IRF6
9 fetal encasement syndrome 29.3 RIPK4 IRF6
10 orofacial cleft 29.1 TP63 IRF6
11 multiple pterygium syndrome, lethal type 11.6
12 pterygium, antecubital 11.5
13 multiple pterygium syndrome, x-linked 11.5
14 pterygium of conjunctiva and cornea 11.4
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 11.3
16 double pterygium 11.3
17 central pterygium 11.2
18 progressive peripheral pterygium 11.2
19 pterygium colli and mental retardation with facial and digital anomalies 11.1
20 irf6-related disorders 11.0
21 spondylohypoplasia, arthrogryposis and popliteal pterygium 11.0
22 pseudopterygium 11.0
23 noonan syndrome 1 10.9
24 pterygium colli, isolated 10.9
25 contractures, congenital, torticollis, and malignant hyperthermia 10.9
26 fetal akinesia deformation sequence 1 10.9
27 restrictive dermopathy, lethal 10.9
28 fetal akinesia deformation sequence 2 10.9
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b 10.9
30 fetal akinesia deformation sequence 3 10.8
31 bruck syndrome 10.8
32 astigmatism 10.7
33 pinguecula 10.5
34 scleritis 10.4
35 keratitis, hereditary 10.4
36 congenital amyoplasia 10.4
37 eye disease 10.3
38 chand syndrome 10.3
39 autosomal recessive disease 10.3
40 omphalocele 10.3
41 microcephaly 10.3
42 clubfoot 10.3
43 cataract 10.3
44 pyogenic granuloma 10.3
45 ifap syndrome 2 10.3
46 cystic lymphangioma 10.3
47 overgrowth syndrome 10.3
48 scoliosis 10.3
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 strabismus 10.2

Graphical network of the top 20 diseases related to Bartsocas-Papas Syndrome:



Diseases related to Bartsocas-Papas Syndrome

Symptoms & Phenotypes for Bartsocas-Papas Syndrome

Human phenotypes related to Bartsocas-Papas Syndrome:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 synostosis of joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0100240
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
5 talipes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001883
6 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
7 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
8 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
9 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
10 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
11 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
12 sparse or absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0200102
13 alopecia totalis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0007418
14 hypoplastic male external genitalia 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000050
15 popliteal pterygium 58 31 hallmark (90%) Very frequent (99-80%) HP:0009756
16 aplasia/hypoplasia of the distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010185
17 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
18 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
19 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
20 micrognathia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000347
21 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
22 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
23 absent thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009777
24 eyelid coloboma 31 frequent (33%) HP:0000625
25 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
26 hypertelorism 31 occasional (7.5%) HP:0000316
27 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
28 wide intermamillary distance 31 occasional (7.5%) HP:0006610
29 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
30 microphthalmia 31 occasional (7.5%) HP:0000568
31 hypoplastic scapulae 31 occasional (7.5%) HP:0000882
32 cupped ear 31 occasional (7.5%) HP:0000378
33 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
34 bilateral cryptorchidism 31 occasional (7.5%) HP:0008689
35 axillary pterygium 31 very rare (1%) HP:0001060
36 inferiorly positioned umbilicus 31 very rare (1%) HP:0032527
37 malformation of the heart and great vessels 58 Occasional (29-5%)
38 intrauterine growth retardation 31 HP:0001511
39 low-set ears 31 HP:0000369
40 cleft upper lip 31 HP:0000204
41 cleft eyelid 58 Frequent (79-30%)
42 absent eyelashes 31 HP:0000561
43 facial cleft 31 HP:0002006
44 hypoplastic labia majora 31 HP:0000059
45 anal stenosis 31 HP:0002025
46 short phalanx of finger 31 HP:0009803
47 small nail 31 HP:0001792
48 absent eyebrow 31 HP:0002223
49 anonychia 31 HP:0001798
50 skin tags 31 HP:0010609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip
filiform bands between mandible and maxilla

Head And Neck Ears:
low-set ears
cupped ears (in some patients)

Head And Neck Face:
facial cleft
hypoplastic maxilla (in some patients)
hypoplastic mandible (in some patients)

Skeletal Hands:
syndactyly
phalangeal hypoplasia
bony synostosis
thumb aplasia (in some patients)

Head And Neck Nose:
hypoplastic nose

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae (in some patients)

Skin Nails Hair Hair:
absent eyebrows (in some patients)
absent eyelashes (in some patients)
alopecia totalis (in some patients)

Abdomen External Features:
low-set umbilicus (in some patients)

Skeletal Pelvis:
hypoplasia of iliac wing (in some patients)

Skin Nails Hair Skin:
popliteal pterygium, bilateral
axillary pterygium, bilateral (in some patients)
inguinal pterygium, bilateral (in some patients)
pterygium of elbow, bilateral (in some patients)
pterygium of wrist, bilateral (in some patients)
more
Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Female:
ambiguous genitalia
hypoplastic labia majora
absent clitoris (in some patients)

Abdomen Gastrointestinal:
anal stenosis

Skin Nails Hair Nails:
hypoplastic nails
absent nails

Head And Neck Eyes:
microphthalmia (in some patients)
hypertelorism (in some patients)
ankyloblepharon filiforme
absent eyebrows (in some patients)
absent eyelashes (in some patients)
more
Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral (in some patients)

Chest Breasts:
asymmetric nipples (in some patients)
widely spaced nipples (in some patients)

Genitourinary External Genitalia Male:
hypoplastic genitalia (in some patients)

Skeletal Feet:
bony synostosis
oligosyndactyly of toes

Clinical features from OMIM®:

263650 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Bartsocas-Papas Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 IRF6 RIPK4 TP63
2 digestive/alimentary MP:0005381 9.33 IRF6 RIPK4 TP63
3 integument MP:0010771 9.13 IRF6 RIPK4 TP63
4 limbs/digits/tail MP:0005371 8.8 IRF6 RIPK4 TP63

Drugs & Therapeutics for Bartsocas-Papas Syndrome

Drugs for Bartsocas-Papas Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Bromfenac Approved Phase 4 91714-94-2 60726
3
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
4
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
5
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
6
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
13
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
14
Bevacizumab Approved, Investigational Phase 4 216974-75-3
15
Fluorouracil Approved Phase 4 51-21-8 3385
16
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
17 Pharmaceutical Solutions Phase 4
18 Anti-Bacterial Agents Phase 4
19 Ophthalmic Solutions Phase 4
20 Anti-Infective Agents Phase 4
21 Antirheumatic Agents Phase 4
22 Analgesics Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Anti-Allergic Agents Phase 4
26 Cyclosporins Phase 4
27 Antifungal Agents Phase 4
28 Calcineurin Inhibitors Phase 4
29 Dermatologic Agents Phase 4
30 Lubricant Eye Drops Phase 4
31 Viscosupplements Phase 4
32 Adjuvants, Immunologic Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Gastrointestinal Agents Phase 4
35 Antiemetics Phase 4
36 Hormones Phase 4
37 Neuroprotective Agents Phase 4
38 Methylprednisolone Acetate Phase 4
39 Antineoplastic Agents, Hormonal Phase 4
40 Protective Agents Phase 4
41 Hormone Antagonists Phase 4
42 glucocorticoids Phase 4
43 BB 1101 Phase 4
44 Angiogenesis Inhibitors Phase 4
45 Antineoplastic Agents, Immunological Phase 4
46 Immunosuppressive Agents Phase 4
47 Antimetabolites Phase 4
48 Immunologic Factors Phase 4
49 Immunoglobulins Phase 4
50 Antibodies Phase 4

Interventional clinical trials:

(show top 50) (show all 89)
# Name Status NCT ID Phase Drugs
1 Management of Recurrent Pterygium to Prevent Visual Impairment Unknown status NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
2 The Comparison of Endothelial Cell Count in Pterygium Surgery Relating to the Timing of MMC Application. Unknown status NCT02641132 Phase 4 Mitomycin C 0.02%
3 Role of Sub-Conjunctival Bevacizumab in Post Pterygium Excision Management Completed NCT01736449 Phase 4 Bevacizumab
4 Efficacy and Safety of PRO-155 (Zebesten Ofteno®) on Inflammation of the Conjunctival Surface in Subjects With Grade I-III Pterygium vs Placebo. Completed NCT03521791 Phase 4 PRO-155
5 A Randomized Clinical Trial Comparing the Intraocular Pressure Changes With the Use of Loteprednol and Dexamethasone After Pterygium Surgery Completed NCT00781300 Phase 4 Loteprednol Etabonate 0.5%;Dexamethasone 0.1%
6 A Randomized Clinical Trial: Comparison of the Efficacy of Topical 0.2% Loteprednol Etabonate and Topical 0.1% Dexamethasone in Impending Recurrent Pterygium Completed NCT04075227 Phase 4 0.2% loteprednol etabonate;0.1% dexamethasone
7 Bromfenac Ophthalmic Solution 0.1% for Postoperative Ocular Pain and Inflammation Related To Pterygium Surgery Completed NCT04022811 Phase 4 0.1% bromfenac
8 Efficacy of Topical Cyclosporine 0.05% in the Prevention of Ocular Surface Inflammation Secondary to Pterygia Completed NCT00383396 Phase 4 Topical Cyclosporine
9 Dextenza in Pterygium Surgery Recruiting NCT04403516 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg;Prednisolone Acetate 1%
10 DEXTENZA for the Treatment of Post-Surgical Pain and Inflammation ComparEd to StandaRd of Care Topical Cortico-Steroid Treatment In PatientS Who Undergo BilaTeral Pterygium Surgery PERSIST Study Recruiting NCT04351737 Phase 4 Intracanalicular Dexamethasone, (0.4 mg) Insert;Prednisolone Acetate
11 Outpatient Performed Pterygium Surgery Study Not yet recruiting NCT03037736 Phase 4 5-Fluorouracil;Bevacizumab;Normal saline
12 A Randomized Controlled Trial of Intralesional Bevacizumab Injection on Primary Pterygium: Preliminary Results Unknown status NCT01380678 Phase 3 Intralesional injection of bevacizumab;Topical antihistamine and vasoconstrictor
13 Study of the Safety and Effectiveness of the Ologen(OculusGen) Collagen Matrix Implant as an Aid in Glaucoma and Pterygium Surgery Unknown status NCT00478790 Phase 3
14 Comparison of Cut and Paste With Sutured Autograft Pterygium Excision Unknown status NCT00326560 Phase 3
15 Topical Bevacizumab 0.05% Eye Drops for Preventing Recurrent Pterygium, A Randomized, Double-masked, Controlled Trial Completed NCT01311960 Phase 3 bevacizumab eye drop 0.05%;normal saline 0.9%
16 Intralesional Ranibizumab on Pterygium Vascularity, Size and Recurrence Rate: a Pilot Study Completed NCT02342392 Phase 2, Phase 3 ranibizumab
17 Randomized Controlled Trial to Compare Fibrin Glue and Suture in Primary Pterygium Excision With Amniotic Membrane Transplantation Completed NCT00457223 Phase 2, Phase 3
18 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
19 Pterygium Treatment Using Single Beta-therapy as Adjuvant Treatment Compared to Conjunctival Autograft Completed NCT01024257 Phase 3
20 Interventional Trial of Subconjunctival Bevacizumab in Recurrent Pterygium Completed NCT01744756 Phase 2, Phase 3 Bevacizumab
21 Evaluation of Tranilast as Adjunctive Therapy Before Primary Pterygium Excision Compared With Conjunctival Autograft Completed NCT01003613 Phase 3 Tranilast, and Tissucol
22 Study of the Safety and Effectiveness of the OculusGen Collagen Matrix Implant as an Aid in Glaucoma and Pterygium Surgery Completed NCT00321035 Phase 3
23 Study of the Safety and Effectiveness of the Ologen (OculusGen) Collagen Matrix Implant as an Aid in Glaucoma and Pterygium Surgery Completed NCT00320957 Phase 3
24 Study of the Safety and Effectiveness of the Ologen (OculusGen) Collagen Matrix Implant as an Aid in Glaucoma and Pterygium Surgery Completed NCT00320762 Phase 3
25 Corneal Epithelium Repair and Therapy Using Autologous Limbal Stem Cell Transplantation Unknown status NCT02148016 Phase 1, Phase 2 Levofloxacin;Betamethasone;Limbal stem cells (LSCs)
26 Assessment of the Efficacy of Ocular Dipyridamole in the Treatment of Dry Eye Symptomology in Subjects With Pterygium Unknown status NCT02782260 Phase 2 Dipyridamole;Placebo
27 Phase 2 Ziv-aflibercept in Ocular Disease Short and Long-term Study Unknown status NCT02486484 Phase 2 ziv-aflibercept
28 The Use of Natural Latex Biomembrane in Ocular Surface Reconstruction and Pterygium Completed NCT01250353 Phase 2
29 A Pilot Study to Assess Safety and Efficacy of Intraoperative Topical Mitomycin C and Bevacizumab (Avastin) Applied to Bare Sclera in Pterygium Surgery Completed NCT01115517 Phase 2 Bevacizumab;Mitomycin C
30 The Effect of Bevacizumab (Avastin) on Pterygium Completed NCT00592176 Phase 2 local injection of bevacizumab
31 A Multicenter, Prospective, Randomized, Double-Masked, Phase 2 Study Evaluating the Safety, Tolerability, and Efficacy of Topical AG-86893 in Patients With Pterygium Completed NCT03533244 Phase 2 0.1% AG-86893 Eye Drops;0.3% AG-86893 Eye Drops;Vehicle Eye Drops
32 Safety and Efficacy of Cyclosporine Ophthalmic Emulsion in Patients With Primary Pterygium Completed NCT01109056 Phase 2 cyclosporine ophthalmic emulsion 0.05%;Vehicle
33 A Phase 2a Multicenter, Randomized, Vehicle-Controlled, Dose Escalating Study to Evaluate the Safety, Efficacy and Pharmacokinetics of CBT-001 Ophthalmic Solution in Patients With Primary or Recurrent Pterygium Completed NCT03049852 Phase 2 CBT-001 single dose;Vehicle;CBT-001 Multi-dose
34 Amniotic Membrane Associated With Conjunctival Autograft Versus Conjunctival Autograft for Recurrent Pterygia Unknown status NCT00802620 Phase 1
35 Ranibizumab for the Inhibition of Neovascularization in Pterygia Completed NCT00768963 Phase 1 ranibizumab;ranibizumab
36 Conjunctival Autografting Alone or Combined With Subconjunctival Bevacizumab for Primary Pterygium Treatment. Completed NCT01686529 Phase 1 Subconjuntival bevacizumab injection
37 The Use of Ranibizumab to Control Pterygium Growth in Recurrences and in Non-surgical Primary Lesions. Completed NCT01169909 Phase 1 Ranibizumab
38 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of Ocular Surface Reconstruction Completed NCT00344201 Phase 1
39 Phase 1 Study of Applying Fibrin Glue in Patients With Corneal Ulcer or Patients Requiring Wound Closure by Suture Withdrawn NCT00155402 Phase 1 tissue fibrin glue application (Tisseel)
40 A Randomized Clinical Trial Comparing the Effect of Moxifloxacin Versus Gatifloxacin Following Pterygium Excision on Corneal Epithelial Healing and Epithelial Toxicity. Unknown status NCT00892918 Moxifloxacin ophthalmic solution 0.5% ; Gatifloxacin ophthalmic solution 0.3%
41 Tissue Engineering Conjunctiva Transplantation and Conjunctival Sac Formation for the Treatment of Pterygium and Atretoblepharia Unknown status NCT02911532
42 Intraoperative Mitomycin C Application, Amniotic Membrane Transplantation and Conjunctival Autograft After Primary Pterygium Excision: A Multi-center Randomized Clinical Trial Unknown status NCT02102776
43 A Randomized Controlled Clinical Trial of Corneal Epithelial Autograft for Pterygium Unknown status NCT03217500
44 Evaluation of Alcohol 20% for Separation of Pterygium Tissue During Pterygium Surgery and Comparison of Three Different Methods of Wound Closure in Pterygium Surgery: Bare Sclera, Sliding Flap, Amniotic Membrane With Biological Glue Unknown status NCT00704977
45 A Comparison Between Surgical Techniques for Securing Conjunctival Autografting in Primary Pterygium Surgery Unknown status NCT03301974
46 A Novel Technique for the Removal of Pterygiums Unknown status NCT02321150
47 Surgical Result of Primary/Recurrent Pterygium by Pterygium Extended Removal Followed by Fibrin Glue Assisted Amniotic Membrane Transplantation Unknown status NCT02015000
48 Effect of Pterygium Excision on IOL Power Calculation: Concurrent Cataract and Pterygium Unknown status NCT00563667
49 Prospective Randomized Pilot Study Comparing the Surgical Times Between Inferior Versus Superior Conjunctival Autografts for Primary Pterygia Unknown status NCT01261455
50 Prospective Randomized Controlled Trial Comparing Bandage Contact Lens and Oral Analgesics Versus Patching and Oral Analgesics for Pain Following Pterygium Surgery Unknown status NCT01249235

Search NIH Clinical Center for Bartsocas-Papas Syndrome

Cochrane evidence based reviews: pterygium

Genetic Tests for Bartsocas-Papas Syndrome

Genetic tests related to Bartsocas-Papas Syndrome:

# Genetic test Affiliating Genes
1 Bartsocas-Papas Syndrome 29 RIPK4

Anatomical Context for Bartsocas-Papas Syndrome

MalaCards organs/tissues related to Bartsocas-Papas Syndrome:

40
Eye, Endothelial, Heart, Kidney, Lung, Skin, Myeloid

Publications for Bartsocas-Papas Syndrome

Articles related to Bartsocas-Papas Syndrome:

(show all 45)
# Title Authors PMID Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 57 6 61
28940926 2017
2
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. 57 6 61
22197488 2012
3
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. 61 57 6
22197489 2012
4
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. 61 6 57
23074676 2011
5
Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs. 61 57 6
15264293 2004
6
Autosomal recessive multiple pterygium syndrome: a new variant? 6 57
10925380 2000
7
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. 57 61
14608644 2003
8
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. 61 57
11343344 2001
9
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. 61 57
9738862 1998
10
New case of Bartsocas-Papas syndrome surviving at 20 months. 57 61
1632449 1992
11
Bartsocas-Papas syndrome: three familial cases from Spain. 57 61
1867261 1991
12
The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. 57 61
6720749 1984
13
The lethal multiple pterygium syndromes. 57
6539071 1984
14
Limb pterygium syndromes: a review and report of eleven patients. 57
7124793 1982
15
Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. 57
4339984 1972
16
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. 61
33713555 2021
17
Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia. 61
33529824 2021
18
Periderm: Life-cycle and function during orofacial and epidermal development. 61
28803895 2019
19
Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity. 61
29706531 2018
20
A Family from Turkey with Bartsocas-Papas Syndrome. 61
28416941 2017
21
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. 61
25275471 2016
22
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. 61
26129644 2015
23
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 61
25784454 2015
24
CT and MRI of congenital nasal lesions in syndromic conditions. 61
25573243 2015
25
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. 61
25430793 2015
26
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 61
25691407 2015
27
Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation. 61
25246526 2014
28
Periderm prevents pathological epithelial adhesions during embryogenesis. 61
25133425 2014
29
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. 61
23278251 2013
30
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 61
23610050 2013
31
Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling. 61
23371553 2013
32
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. 61
22876587 2012
33
Bartsocas-Papas syndrome. 61
18820389 2008
34
Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia. 61
17457955 2007
35
Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report. 61
16925011 2006
36
Spectrum of features in pterygium syndrome. 61
16644513 2006
37
Bartsocas-Papas syndrome in a Pakistani family from Kuwait. 61
15297688 2004
38
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. 61
12575021 2003
39
The first description of lethal pterygium syndrome with facial clefting(Bartsocas-Papas syndrome) in 1600. 61
10819643 2000
40
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. 61
10517476 1999
41
Supernumerary nipples in a Bartsocas-Papas patient in a consanguineous Iranian family. 61
10319208 1999
42
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? 61
7856636 1994
43
Nosological difference between the Bartsocas-Papas syndrome and lethal multiple pterygium syndrome. 61
3377016 1988
44
Pathogenetic analysis of certain developmental and genetic ectodermal defects. 61
3052621 1988
45
Bartsocas-Papas syndrome. A case report. 61
2984611 1985

Variations for Bartsocas-Papas Syndrome

ClinVar genetic disease variations for Bartsocas-Papas Syndrome:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIPK4 NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) SNV Pathogenic 30511 rs387906921 GRCh37: 21:43164110-43164110
GRCh38: 21:41743950-41743950
2 RIPK4 NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) SNV Pathogenic 30512 rs387906922 GRCh37: 21:43176917-43176917
GRCh38: 21:41756757-41756757
3 RIPK4 NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) SNV Pathogenic 30513 rs387906923 GRCh37: 21:43176797-43176797
GRCh38: 21:41756637-41756637
4 RIPK4 RIPK4, 1-BP INS, 777A Insertion Pathogenic 30514 GRCh37:
GRCh38:
5 RIPK4 NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) Duplication Pathogenic 585265 rs1569100177 GRCh37: 21:43164162-43164163
GRCh38: 21:41744002-41744003
6 RIPK4 NM_020639.3(RIPK4):c.2071G>T (p.Glu691Ter) SNV Pathogenic 1033542 GRCh37: 21:43161282-43161282
GRCh38: 21:41741122-41741122
7 RIPK4 NM_020639.3(RIPK4):c.832+2T>C SNV Conflicting interpretations of pathogenicity 716721 rs146341788 GRCh37: 21:43166771-43166771
GRCh38: 21:41746611-41746611
8 RIPK4 NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) SNV Uncertain significance 898401 GRCh37: 21:43166793-43166793
GRCh38: 21:41746633-41746633
9 RIPK4 NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) SNV Uncertain significance 898402 GRCh37: 21:43166850-43166850
GRCh38: 21:41746690-41746690
10 RIPK4 NM_020639.3(RIPK4):c.504C>T (p.Asn168=) SNV Uncertain significance 898403 GRCh37: 21:43171376-43171376
GRCh38: 21:41751216-41751216
11 RIPK4 NM_020639.3(RIPK4):c.*1420T>G SNV Uncertain significance 899294 GRCh37: 21:43159578-43159578
GRCh38: 21:41739418-41739418
12 RIPK4 NM_020639.3(RIPK4):c.*1376C>T SNV Uncertain significance 899295 GRCh37: 21:43159622-43159622
GRCh38: 21:41739462-41739462
13 RIPK4 NM_020639.3(RIPK4):c.*1206A>G SNV Uncertain significance 899296 GRCh37: 21:43159792-43159792
GRCh38: 21:41739632-41739632
14 RIPK4 NM_020639.3(RIPK4):c.*1203A>T SNV Uncertain significance 899297 GRCh37: 21:43159795-43159795
GRCh38: 21:41739635-41739635
15 RIPK4 NM_020639.3(RIPK4):c.*1192A>G SNV Uncertain significance 899298 GRCh37: 21:43159806-43159806
GRCh38: 21:41739646-41739646
16 RIPK4 NM_020639.3(RIPK4):c.*273A>C SNV Uncertain significance 899358 GRCh37: 21:43160725-43160725
GRCh38: 21:41740565-41740565
17 RIPK4 NM_020639.3(RIPK4):c.*416C>T SNV Uncertain significance 898254 GRCh37: 21:43160582-43160582
GRCh38: 21:41740422-41740422
18 RIPK4 NM_020639.3(RIPK4):c.*298A>G SNV Uncertain significance 898255 GRCh37: 21:43160700-43160700
GRCh38: 21:41740540-41740540
19 RIPK4 NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) SNV Uncertain significance 898315 GRCh37: 21:43161491-43161491
GRCh38: 21:41741331-41741331
20 RIPK4 NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) SNV Uncertain significance 898316 GRCh37: 21:43161574-43161574
GRCh38: 21:41741414-41741414
21 RIPK4 NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) SNV Uncertain significance 898317 GRCh37: 21:43161659-43161659
GRCh38: 21:41741499-41741499
22 RIPK4 NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) SNV Uncertain significance 898318 GRCh37: 21:43161792-43161792
GRCh38: 21:41741632-41741632
23 RIPK4 NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) SNV Uncertain significance 896810 GRCh37: 21:43187143-43187143
GRCh38: 21:41766983-41766983
24 RIPK4 NM_020639.3(RIPK4):c.*204G>A SNV Uncertain significance 899360 GRCh37: 21:43160794-43160794
GRCh38: 21:41740634-41740634
25 RIPK4 NM_020639.3(RIPK4):c.*173C>T SNV Uncertain significance 899361 GRCh37: 21:43160825-43160825
GRCh38: 21:41740665-41740665
26 RIPK4 NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) SNV Uncertain significance 1033541 GRCh37: 21:43161842-43161842
GRCh38: 21:41741682-41741682
27 RIPK4 NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) SNV Uncertain significance 781521 rs201802815 GRCh37: 21:43161076-43161076
GRCh38: 21:41740916-41740916
28 RIPK4 NM_020639.3(RIPK4):c.1195+8G>C SNV Uncertain significance 896752 GRCh37: 21:43164034-43164034
GRCh38: 21:41743874-41743874
29 RIPK4 NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) SNV Uncertain significance 746355 rs200420912 GRCh37: 21:43164100-43164100
GRCh38: 21:41743940-41743940
30 RIPK4 NM_020639.3(RIPK4):c.252G>A (p.Val84=) SNV Uncertain significance 734574 rs138268998 GRCh37: 21:43176907-43176907
GRCh38: 21:41756747-41756747
31 RIPK4 NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) SNV Uncertain significance 897148 GRCh37: 21:43161312-43161312
GRCh38: 21:41741152-41741152
32 RIPK4 NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) SNV Uncertain significance 897149 GRCh37: 21:43161352-43161352
GRCh38: 21:41741192-41741192
33 RIPK4 NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) SNV Uncertain significance 897150 GRCh37: 21:43161358-43161358
GRCh38: 21:41741198-41741198
34 RIPK4 NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) SNV Uncertain significance 897225 GRCh37: 21:43164131-43164131
GRCh38: 21:41743971-41743971
35 RIPK4 NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) SNV Uncertain significance 897226 GRCh37: 21:43164158-43164158
GRCh38: 21:41743998-41743998
36 RIPK4 NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) SNV Uncertain significance 897227 GRCh37: 21:43164198-43164198
GRCh38: 21:41744038-41744038
37 RIPK4 NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) SNV Uncertain significance 897228 GRCh37: 21:43165956-43165956
GRCh38: 21:41745796-41745796
38 RIPK4 NM_020639.3(RIPK4):c.*1447A>C SNV Uncertain significance 898191 GRCh37: 21:43159551-43159551
GRCh38: 21:41739391-41739391
39 RIPK4 NM_020639.3(RIPK4):c.*701A>G SNV Uncertain significance 898251 GRCh37: 21:43160297-43160297
GRCh38: 21:41740137-41740137
40 RIPK4 NM_020639.3(RIPK4):c.*637G>A SNV Uncertain significance 898252 GRCh37: 21:43160361-43160361
GRCh38: 21:41740201-41740201
41 RIPK4 NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) SNV Uncertain significance 816789 rs773070455 GRCh37: 21:43161672-43161672
GRCh38: 21:41741512-41741512
42 RIPK4 NM_020639.3(RIPK4):c.*1172T>C SNV Uncertain significance 895205 GRCh37: 21:43159826-43159826
GRCh38: 21:41739666-41739666
43 RIPK4 NM_020639.3(RIPK4):c.*1151G>A SNV Uncertain significance 895206 GRCh37: 21:43159847-43159847
GRCh38: 21:41739687-41739687
44 RIPK4 NM_020639.3(RIPK4):c.*1117T>C SNV Uncertain significance 895207 GRCh37: 21:43159881-43159881
GRCh38: 21:41739721-41739721
45 RIPK4 NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) SNV Uncertain significance 895414 GRCh37: 21:43176882-43176882
GRCh38: 21:41756722-41756722
46 RIPK4 NM_020639.3(RIPK4):c.*824C>T SNV Uncertain significance 896620 GRCh37: 21:43160174-43160174
GRCh38: 21:41740014-41740014
47 RIPK4 NM_020639.3(RIPK4):c.*823A>G SNV Uncertain significance 896621 GRCh37: 21:43160175-43160175
GRCh38: 21:41740015-41740015
48 RIPK4 NM_020639.3(RIPK4):c.*961G>A SNV Uncertain significance 895209 GRCh37: 21:43160037-43160037
GRCh38: 21:41739877-41739877
49 RIPK4 NM_020639.3(RIPK4):c.*161G>A SNV Uncertain significance 895259 GRCh37: 21:43160837-43160837
GRCh38: 21:41740677-41740677
50 RIPK4 NM_020639.3(RIPK4):c.*72C>T SNV Uncertain significance 895260 GRCh37: 21:43160926-43160926
GRCh38: 21:41740766-41740766

UniProtKB/Swiss-Prot genetic disease variations for Bartsocas-Papas Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 RIPK4 p.Ile81Asn VAR_067331 rs387906922
2 RIPK4 p.Ile121Asn VAR_067332 rs387906923
3 RIPK4 p.Thr184Ile VAR_067333

Expression for Bartsocas-Papas Syndrome

Search GEO for disease gene expression data for Bartsocas-Papas Syndrome.

Pathways for Bartsocas-Papas Syndrome

Pathways related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 TP63 IRF6
2 11.67 RIPK4 IRF6
3 11.08 TP63 IRF6
4 9.53 TP63 IRF6

GO Terms for Bartsocas-Papas Syndrome

Biological processes related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 8.96 TP63 IRF6
2 cranial skeletal system development GO:1904888 8.62 TP63 IRF6

Molecular functions related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 TP63 IRF6
2 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 TP63 IRF6

Sources for Bartsocas-Papas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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