EVMPS
MCID: ESC003
MIFTS: 59

Escobar Syndrome (EVMPS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Escobar Syndrome

Aliases & Descriptions for Escobar Syndrome:

Name: Escobar Syndrome 54 50 24 25 56 66 13
Multiple Pterygium Syndrome 12 50 24 25 66 14
Pterygium 12 42 14 69
Escobar Variant Multiple Pterygium Syndrome 50 56 29
Pterygium Syndrome 50 25 66
Evmps 50 56 66
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome 50 56
Autosomal Recessive Multiple Pterygium Syndrome 50 56
Multiple Pterygium Syndrome, Escobar Variant 54 66
Pterygium Colli Syndrome 50 66
Pterygium Universale 50 66
Multiple Pterygium Syndrome, Non-Lethal Type 66
Multiple Pterygium Syndrome Nonlethal Type 50
Nonlethal Type Multiple Pterygium Syndrome 66
Multiple Pterygium Syndrome Escobar Type 50
Familial Pterygium Syndrome 25
Surfer's Eye 12

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive multiple pterygium syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
escobar syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 265000
Disease Ontology 12 DOID:0002116 DOID:0080110
ICD9CM 35 372.4 372.40
MeSH 42 D011625
Orphanet 56 ORPHA2990
ICD10 via Orphanet 34 Q79.8
MedGen 40 CN031762
UMLS 69 C0033999

Summaries for Escobar Syndrome

NIH Rare Diseases : 50 multiple pterygium syndrome, escobar type is characterized by webbing of skin (pterygium) and a lack of muscle movement (akinesia) that occur before birth. the pterygium typically affect the neck, fingers, elbows, and/or knees. individuals with multiple pterygium syndrome, escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of the spine (scoliosis), and distinctive facial features. males with this condition can have undescended testes (cryptorchidism).  mutations in the chrng gene cause most cases of this disorder. it tends to be inherited in an autosomal recessive fashion. while there is still no cure for this disorder, treatment options will depend on the type and severity of symptoms. last updated: 11/16/2016

MalaCards based summary : Escobar Syndrome, also known as multiple pterygium syndrome, is related to multiple pterygium syndrome, lethal type and myopathy, and has symptoms including hypertelorism, low-set ears and pectus excavatum. An important gene associated with Escobar Syndrome is CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and CREB Pathway. The drugs Dexamethasone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.

Genetics Home Reference : 25 Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

OMIM : 54 Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing... (265000) more...

UniProtKB/Swiss-Prot : 66 Multiple pterygium syndrome, Escobar variant: Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis.

Wikipedia : 71 Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Related Diseases for Escobar Syndrome

Diseases in the Escobar Syndrome family:

Escobar Syndrome, Type B

Diseases related to Escobar Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, lethal type 33.4 CHRNA1 CHRNE
2 myopathy 29.5 RYR1 TPM2
3 popliteal pterygium syndrome 1 12.3
4 pterygium of conjunctiva and cornea 12.2
5 popliteal pterygium syndrome 2, lethal type 12.1
6 pterygium, antecubital 12.1
7 popliteal pterygium syndrome, bartsocas-papas type 11.9
8 double pterygium 11.9
9 escobar syndrome, type b 11.8
10 multiple pterygium syndrome, x-linked 11.8
11 pterygium colli and mental retardation with facial and digital anomalies 11.8
12 pterygium colli mental retardation digital anomalies 11.7
13 central pterygium 11.7
14 progressive peripheral pterygium 11.7
15 spondylohypoplasia, arthrogryposis and popliteal pterygium 11.7
16 chrna1-related multiple pterygium syndrome, lethal type 11.7
17 chrnd-related multiple pterygium syndrome, lethal type 11.7
18 multiple pterygium syndrome, dominant 11.7
19 van der woude syndrome 11.1
20 fetal akinesia deformation sequence 11.1
21 arthrogryposis, distal, type 8 11.0
22 irf6-related disorders 10.9
23 noonan syndrome 1 10.7
24 pinguecula 10.2
25 scleritis 10.2
26 endotheliitis 10.2
27 granulomatous orchitis 10.2 CHRND CHRNG
28 amelogenesis imperfecta, type iia5 10.1 CHRND CHRNG
29 marden-walker syndrome 10.1 MYH3 TPM2
30 nemaline myopathy 4, autosomal dominant 10.1 MYH3 TPM2
31 cascade stomach 10.1 CHRNA1 CHRND CHRNG
32 congenital disorder of glycosylation, type iid 10.1 MYH3 TPM2
33 tooth agenesis, selective, 1, with or without orofacial cleft 10.1 CHRNA1 CHRND CHRNG
34 carney complex variant 10.0 MYH3 TPM2
35 nephrotic syndrome 10.0 MYH3 TPM2
36 astigmatism 10.0
37 cataract 9.9
38 atrioventricular septal defect 9.9 MYH3 TPM2
39 microcephaly and chorioretinopathy 2 9.9 RYR1 TPM2
40 conjunctivochalasis 9.9
41 burns 9.8
42 keratitis 9.8
43 syngnathia 9.8
44 squamous cell carcinoma 9.8
45 sosby syndrome 9.8 CHRNA1 CHRNB1 CHRND CHRNE
46 inverse marcus-gunn phenomenon 9.8 CHRNA1 CHRNB1 CHRND CHRNE
47 acneiform dermatitis 9.8 CHRNA1 CHRNB1 CHRND CHRNE
48 conus medullaris neoplasm 9.8 CHRNA1 CHRNB1 CHRND CHRNE
49 mesomelic dysplasia, kantaputra type 9.8 CHRNA1 CHRND CHRNG RYR1
50 turner syndrome 9.7

Graphical network of the top 20 diseases related to Escobar Syndrome:



Diseases related to Escobar Syndrome

Symptoms & Phenotypes for Escobar Syndrome

Symptoms by clinical synopsis from OMIM:

265000

Clinical features from OMIM:

265000

Human phenotypes related to Escobar Syndrome:

56 32 (show top 50) (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 low-set ears 56 32 Frequent (79-30%) HP:0000369
3 pectus excavatum 56 32 Very frequent (99-80%) HP:0000767
4 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
5 high palate 56 32 Frequent (79-30%) HP:0000218
6 ptosis 56 32 Frequent (79-30%) HP:0000508
7 gait disturbance 56 32 Occasional (29-5%) HP:0001288
8 failure to thrive 56 32 Occasional (29-5%) HP:0001508
9 scoliosis 56 32 Very frequent (99-80%) HP:0002650
10 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
11 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
12 microcephaly 56 32 Frequent (79-30%) HP:0000252
13 short stature 56 32 Frequent (79-30%) HP:0004322
14 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
15 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
16 cleft palate 56 32 Occasional (29-5%) HP:0000175
17 long philtrum 56 32 Occasional (29-5%) HP:0000343
18 micrognathia 56 32 Frequent (79-30%) HP:0000347
19 aplasia/hypoplasia of the abdominal wall musculature 56 32 Frequent (79-30%) HP:0010318
20 strabismus 56 32 Occasional (29-5%) HP:0000486
21 epicanthus 56 32 Frequent (79-30%) HP:0000286
22 dolichocephaly 56 32 Occasional (29-5%) HP:0000268
23 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
24 abnormality of the aortic valve 56 32 Occasional (29-5%) HP:0001646
25 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
26 low posterior hairline 56 32 Occasional (29-5%) HP:0002162
27 webbed neck 56 32 Very frequent (99-80%) HP:0000465
28 nevus 56 32 Occasional (29-5%) HP:0003764
29 abnormality of the foot 56 32 Frequent (79-30%) HP:0001760
30 aortic dilatation 56 32 Occasional (29-5%) HP:0001724
31 arthrogryposis multiplex congenita 56 32 Frequent (79-30%) HP:0002804
32 hypogonadism 56 32 Frequent (79-30%) HP:0000135
33 telecanthus 56 32 Frequent (79-30%) HP:0000506
34 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
35 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
36 aplasia/hypoplasia of the skin 56 32 Frequent (79-30%) HP:0008065
37 conductive hearing impairment 56 32 Occasional (29-5%) HP:0000405
38 long face 56 32 Frequent (79-30%) HP:0000276
39 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
40 pointed chin 56 32 Frequent (79-30%) HP:0000307
41 spina bifida occulta 56 32 Occasional (29-5%) HP:0003298
42 vertebral segmentation defect 56 32 Frequent (79-30%) HP:0003422
43 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
44 facial asymmetry 56 32 Frequent (79-30%) HP:0000324
45 symphalangism affecting the phalanges of the hand 56 32 Very frequent (99-80%) HP:0009773
46 rib fusion 56 32 Occasional (29-5%) HP:0000902
47 scrotal hypoplasia 56 32 Occasional (29-5%) HP:0000046
48 pulmonary hypoplasia 56 32 Occasional (29-5%) HP:0002089
49 neonatal respiratory distress 56 32 Frequent (79-30%) HP:0002643
50 abnormality of the tongue 56 32 Occasional (29-5%) HP:0000157

UMLS symptoms related to Escobar Syndrome:


arthralgia, joint swelling

GenomeRNAi Phenotypes related to Escobar Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.07 CHRNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.07 CHRNB1 CHRNA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.07 TPM2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.07 RYR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.07 TPM2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.07 RYR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.07 TPM2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.07 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.07 RYR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.07 CHRNA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.07 RYR1 CHRNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.07 RYR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.07 TPM2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.07 CHRNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.07 CHRNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.07 CHRNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.07 CHRNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.07 CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.07 CHRNA1 CHRNB1 TPM2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.07 CHRNA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.07 TPM2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.07 RYR1 TPM2 CHRNA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.07 CHRNB1 CHRNA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.07 CHRNA1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.07 RYR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.07 CHRNB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.07 CHRNB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.07 RYR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.07 CHRNA1

Drugs & Therapeutics for Escobar Syndrome

Drugs for Escobar Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 129)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
5
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
8
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
9
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
10
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
11
Fluorouracil Approved Phase 4 51-21-8 3385
12 Estradiol valerate Phase 4 979-32-8
13 Dexamethasone acetate Phase 4 1177-87-3
14 glucocorticoids Phase 4,Phase 1,Phase 2
15 Mitomycins Phase 4,Phase 2
16 Contraceptive Agents Phase 4
17 Contraceptives, Oral Phase 4
18 Tetrahydrozoline Phase 4,Phase 3,Phase 2
19 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
20 Hormone Antagonists Phase 4,Phase 1,Phase 2
21 Ophthalmic Solutions Phase 4,Phase 3,Phase 2
22 Dexamethasone 21-phosphate Phase 4
23 Hormones Phase 4,Phase 1,Phase 2
24 Peripheral Nervous System Agents Phase 4,Phase 3
25 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
27 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Anti-Allergic Agents Phase 4,Phase 3
29 Estradiol 17 beta-cypionate Phase 4
30 Estradiol 3-benzoate Phase 4
31 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
32 Polyestradiol phosphate Phase 4
33 Anti-Infective Agents Phase 4,Phase 1,Phase 2
34 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
36 BB 1101 Phase 4
37 Autonomic Agents Phase 4,Phase 3
38
Cyproterone Phase 4 2098-66-0 5284537
39 Alkylating Agents Phase 4,Phase 2
40
protease inhibitors Phase 4
41 Gastrointestinal Agents Phase 4
42 Contraceptive Agents, Male Phase 4
43 HIV Protease Inhibitors Phase 4
44 Dermatologic Agents Phase 4,Phase 2
45 Androgen Antagonists Phase 4
46 Androgens Phase 4
47 Hypoglycemic Agents Phase 4
48 Estrogens Phase 4
49 Immunosuppressive Agents Phase 4,Phase 2
50 Antiemetics Phase 4

Interventional clinical trials:

(show top 50) (show all 71)
id Name Status NCT ID Phase
1 Role of Sub-Conjunctival Bevacizumab in Post Pterygium Excision Management Completed NCT01736449 Phase 4
2 Efficacy of Topical Cyclosporine 0.05% in the Prevention of Ocular Surface Inflammation Secondary to Pterygia Completed NCT00383396 Phase 4
3 Intraocular Pressure With Loteprednol and Dexamethasone Completed NCT00781300 Phase 4
4 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
5 Pterygium Head Body MMC1: Two Different Surgical Procedures and Their Effect on Endothelial Cell Count. Not yet recruiting NCT02641132 Phase 4
6 Strategies for Management of Recurrent Pterygium Not yet recruiting NCT02530801 Phase 4
7 Outpatient Performed Pterygium Surgery Study Not yet recruiting NCT03037736 Phase 4
8 Comparison of Glue With Sutures for Pterygium Surgery Unknown status NCT00326560 Phase 3
9 Intralesional Bevacizumab Injection on Primary Pterygium Unknown status NCT01380678 Phase 3
10 Ologen(Oculusgen)-Glaucoma and Pterygium Historical Control Study in China Shanghai Sixth People's Hospital Unknown status NCT00478790 Phase 3
11 Comparison Amongst Scleral, Corneal and Amniotic Membrane Grafts to Restore Scleral Thinning Unknown status NCT00801073 Phase 2, Phase 3
12 Intralesional Ranibizumab on Pterygium Vascularity, Size and Recurrence Rate: a Pilot Study Completed NCT02342392 Phase 2, Phase 3
13 Subconjunctival Bevacizumab and Recurrent Pterygium Completed NCT01744756 Phase 2, Phase 3
14 To Compare Fibrin Glue and Suture in Primary Pterygium Excision With Amniotic Membrane Transplantation Completed NCT00457223 Phase 2, Phase 3
15 Ologen (OculusGen)-Glaucoma and Pterygium Historical Control Study in China Beijing Hospital Completed NCT00320762 Phase 3
16 Evaluation of Tranilast to Treat Pterygium Before Excision Completed NCT01003613 Phase 3
17 Ologen (OculusGen)-Glaucoma and Pterygium Historical Control Study in Beijing Remin Hospital Completed NCT00321035 Phase 3
18 Topical Bevacizumab for Preventing Recurrent Pterygium Completed NCT01311960 Phase 3
19 Ologen (OculusGen)-Glaucoma and Pterygium Historical Control Study in China Zhong-Shan Hospital Completed NCT00320957 Phase 3
20 Pterygium Treatment Using Single Beta-therapy as Adjuvant Treatment Compared to Conjunctival Autograft Completed NCT01024257 Phase 3
21 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Transplantation Completed NCT00346450 Phase 3
22 Corneal Epithelium Repair and Therapy Using Autologous Limbal Stem Cell Transplantation Unknown status NCT02148016 Phase 1, Phase 2
23 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
24 The Use of Natural Latex Biomembrane in Ocular Surface Reconstruction Completed NCT01250353 Phase 2
25 The Effect of Bevacizumab (Avastin) on Pterygium Completed NCT00592176 Phase 2
26 Safety Study of Avastin Used as Adjunctive Therapy in Pterygium Surgery Completed NCT01115517 Phase 2
27 Safety and Efficacy of Cyclosporine Ophthalmic Emulsion in Patients With Primary Pterygium Completed NCT01109056 Phase 2
28 Ziv-aflibercept in Ocular Disease Requiring Anti-VEGF Injection Recruiting NCT02486484 Phase 2
29 Safety and Efficacy of CBT-001 Ophthalmic Solution in Patients With Pterygium Not yet recruiting NCT03049852 Phase 2
30 Assessment of the Efficacy of Ocular Dipyridamole in the Treatment of Dry Eye Symptomology in Subjects With Pterygium Not yet recruiting NCT02782260 Phase 2
31 Amniotic Membrane Associated With Conjunctival Autograft Versus Conjunctival Autograft for Recurrent Pterygia Unknown status NCT00802620 Phase 1
32 Bevacizumab for Primary Pterygium Treatment Completed NCT01686529 Phase 1
33 Bevacizumab Injection for Recurrent Pterygium Completed NCT02007174 Phase 1
34 Efficacy and Safety of Sub-tenon Ranibizumab for Recurrent Pterygia Completed NCT01169909 Phase 1
35 Ranibizumab for the Inhibition of Neovascularization in Pterygia Completed NCT00768963 Phase 1
36 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of External Eye Surgery Completed NCT00344201 Phase 1
37 The Application of Fibrin Glue in Ocular Surface Diseases Withdrawn NCT00155402 Phase 1
38 Alcohol 20% for Separation of Pterygium and Comparison of Different Wound Closure Methods Unknown status NCT00704977
39 Surgical Result of Pterygium Extended Removal Followed by Fibrin Glue Assisted Amniotic Membrane Transplantation Unknown status NCT02015000
40 Prospective Randomized Pilot Study Comparing Inferior Versus Superior Conjunctival Autografts for Primary Pterygia Unknown status NCT01261455
41 Surgical Treatment of Concurrent Cataract and Primary Pterygium Unknown status NCT00563277
42 A Novel Technique for the Removal of Pterygiums Unknown status NCT02321150
43 Effect of Pterygium Excision on Intraocular Lens Power Calculation for Subsequent Cataract Operation Unknown status NCT00563667
44 Effect of Moxifloxacin Versus Gatifloxacin on Corneal Epithelium Following Pterygium Excision Unknown status NCT00892918
45 Bandage Contact Lens and Oral Analgesics Versus Patching and Oral Analgesics for Pain Following Pterygium Surgery Unknown status NCT01249235
46 Robotic Surgery of the Ocular Surface Unknown status NCT02116062
47 Using Impression Cytology to Observe the Cytological Changes of Ocular Surface Cells in Various Ocular Surface Disorders Unknown status NCT01387971
48 Determinants of Pterygium Occurrence and Recurrence in a Rural African Population Completed NCT00713180
49 Clinical Analysis of Recurrence Patterns Following Conjunctival Autografts for Pterygium Surgery Completed NCT02059837
50 Conjunctival Autologous Transplantation Using Fibrin Glue in Primary Pterygia Completed NCT00949728

Search NIH Clinical Center for Escobar Syndrome

Cochrane evidence based reviews: pterygium

Genetic Tests for Escobar Syndrome

Genetic tests related to Escobar Syndrome:

id Genetic test Affiliating Genes
1 Multiple Pterygium Syndrome Escobar Type 29
2 Escobar Syndrome 24
3 Multiple Pterygium Syndrome 24

Anatomical Context for Escobar Syndrome

MalaCards organs/tissues related to Escobar Syndrome:

39
Skin, Eye, Testes, Heart, Tongue, Skeletal Muscle, Lung

Publications for Escobar Syndrome

Articles related to Escobar Syndrome:

(show all 21)
id Title Authors Year
1
EP10.30: A rare case of recurrent Escobar syndrome diagnosed on ultrasound. ( 27646517 )
2016
2
Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene. ( 25411939 )
2015
3
Chronic abdominal pain in a patient with escobar syndrome. ( 25196531 )
2015
4
Escobar syndrome with heterotaxia and esophageal atresia: case report. ( 25365855 )
2014
5
Nonlethal multiple pterygium syndrome: Escobar syndrome. ( 24472885 )
2014
6
Airway management in Escobar syndrome: A formidable challenge. ( 24403623 )
2013
7
Is webbing (pterygia) a constant feature in patients with Escobar syndrome? ( 24254455 )
2013
8
Neuromotor synapses in Escobar syndrome. ( 24038971 )
2013
9
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. ( 23448903 )
2013
10
Escobar syndrome mimicing congenital patellar syndrome. ( 25610221 )
2012
11
Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. ( 22486906 )
2012
12
Escobar syndrome in three male patients of same family. ( 21814339 )
2011
13
Anesthesic management for escobar syndrome: case report. ( 21541234 )
2011
14
Escobar syndrome: is this child prone to malignant hyperthermia? ( 19076525 )
2009
15
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. ( 19155175 )
2009
16
Lumbar epidural anesthesia for the child with Escobar syndrome. ( 16719892 )
2006
17
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. ( 16826520 )
2006
18
Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. ( 18751807 )
2005
19
Escobar syndrome. ( 15330967 )
2004
20
Extensor-tendon hypoplasia and multiple pterygia: Escobar syndrome in a 7-year-old boy. ( 12479430 )
2002
21
Scoliosis in Escobar syndrome (multiple pterygium syndrome). Description of two cases. ( 9009416 )
1996

Variations for Escobar Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Escobar Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 CHRNG p.Val107Gly VAR_030753 rs267606726
2 CHRNG p.Arg239Cys VAR_030755 rs121912670

ClinVar genetic disease variations for Escobar Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHRNG NM_005199.4(CHRNG): c.13C> T (p.Gln5Ter) single nucleotide variant Pathogenic rs267606725 GRCh37 Chromosome 2, 233404470: 233404470
2 CHRNG NM_005199.4(CHRNG): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs121912670 GRCh37 Chromosome 2, 233407702: 233407702
3 CHRNG NM_005199.4(CHRNG): c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro) duplication Pathogenic rs863223313 GRCh37 Chromosome 2, 233405372: 233405380
4 CHRNG NM_005199.4(CHRNG): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs121912671 GRCh37 Chromosome 2, 233410280: 233410280
5 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh37 Chromosome 2, 233405391: 233405391
6 CHRNG NM_005199.4(CHRNG): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs121912672 GRCh37 Chromosome 2, 233404782: 233404782
7 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh37 Chromosome 2, 233407740: 233407741
8 CHRNG CHRNG, 1-BP DUP, 459A duplication Pathogenic
9 CHRNG NM_005199.4(CHRNG): c.117dupC (p.Asn40Glnfs) duplication Pathogenic rs797044677 GRCh37 Chromosome 2, 233404763: 233404763
10 CHRNG NM_005199.4(CHRNG): c.428C> G (p.Pro143Arg) single nucleotide variant Pathogenic rs765746795 GRCh37 Chromosome 2, 233406161: 233406161

Expression for Escobar Syndrome

Search GEO for disease gene expression data for Escobar Syndrome.

Pathways for Escobar Syndrome

Pathways related to Escobar Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
2
Show member pathways
12.74 CHRNA1 CHRND CHRNE CHRNG RYR1
3
Show member pathways
12.6 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4
Show member pathways
12.48 CHRNA1 CHRND CHRNE CHRNG
5 11.26 MYH3 TPM2
6
Show member pathways
11.19 CHRNA1 CHRND CHRNE CHRNG
7 10.1 CHRNA1 CHRNB1 CHRND CHRNE RYR1

GO Terms for Escobar Syndrome

Cellular components related to Escobar Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.87 CHRNA1 CHRNB1 CHRND CHRNE CHRNG FRAS1
2 cell junction GO:0030054 9.65 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
3 synapse GO:0045202 9.55 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4 postsynaptic membrane GO:0045211 9.35 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
5 acetylcholine-gated channel complex GO:0005892 9.02 CHRNA1 CHRNB1 CHRND CHRNE CHRNG

Biological processes related to Escobar Syndrome according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 CHRNA1 CHRNB1 CHRND CHRNE CHRNG RYR1
2 ion transmembrane transport GO:0034220 9.88 CHRNA1 CHRNB1 CHRND CHRNE RYR1
3 cation transmembrane transport GO:0098655 9.77 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4 regulation of membrane potential GO:0042391 9.76 CHRNA1 CHRNB1 CHRND CHRNE
5 response to nicotine GO:0035094 9.73 CHRNA1 CHRND CHRNE CHRNG
6 excitatory postsynaptic potential GO:0060079 9.72 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
7 cation transport GO:0006812 9.71 CHRNA1 CHRNB1 CHRND
8 skeletal muscle contraction GO:0003009 9.71 CHRNA1 CHRNB1 CHRND MYH3
9 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
10 muscle contraction GO:0006936 9.63 CHRNB1 CHRND CHRNE CHRNG RYR1 TPM2
11 embryonic limb morphogenesis GO:0030326 9.58 FRAS1 MYH3
12 skin development GO:0043588 9.58 FRAS1 RYR1
13 muscle filament sliding GO:0030049 9.57 MYH3 TPM2
14 neuromuscular process GO:0050905 9.56 CHRNA1 CHRND
15 musculoskeletal movement GO:0050881 9.52 CHRNA1 CHRND
16 skeletal muscle tissue growth GO:0048630 9.51 CHRNA1 CHRND
17 neuromuscular synaptic transmission GO:0007274 9.35 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
18 synaptic transmission, cholinergic GO:0007271 9.02 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
19 transport GO:0006810 10.02 CHRNA1 CHRNB1 CHRND CHRNE CHRNG RYR1

Molecular functions related to Escobar Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.67 CHRNA1 CHRNB1 CHRND RYR1
2 extracellular ligand-gated ion channel activity GO:0005230 9.65 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
3 acetylcholine receptor activity GO:0015464 9.62 CHRNA1 CHRNB1 CHRNE CHRNG
4 ligand-gated ion channel activity GO:0015276 9.55 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
5 channel activity GO:0015267 9.4 CHRNB1 CHRNG
6 acetylcholine binding GO:0042166 9.35 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.02 CHRNA1 CHRNB1 CHRND CHRNE CHRNG

Sources for Escobar Syndrome

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....