EVMPS
MCID: MLT163
MIFTS: 63

Multiple Pterygium Syndrome, Escobar Variant (EVMPS)

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

Aliases & Classifications for Multiple Pterygium Syndrome, Escobar Variant

MalaCards integrated aliases for Multiple Pterygium Syndrome, Escobar Variant:

Name: Multiple Pterygium Syndrome, Escobar Variant 57 72
Multiple Pterygium Syndrome 57 12 73 20 43 58 72 36 44 15
Escobar Syndrome 57 20 43 58 72 13
Pterygium 12 15 17 70 32
Autosomal Recessive Multiple Pterygium Syndrome 20 58 29 6
Pterygium Syndrome 57 20 43 72
Evmps 57 20 58 72
Pterygium Colli Syndrome 57 20 72
Pterygium Universale 57 20 72
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome 20 58
Escobar Variant Multiple Pterygium Syndrome 20 58
Pterygium Colli 73 6
Multiple Pterygium Syndrome, Non-Lethal Type 72
Multiple Pterygium Syndrome, Nonlethal Type 57
Multiple Pterygium Syndrome Nonlethal Type 20
Nonlethal Type Multiple Pterygium Syndrome 72
Pterygium Syndrome, Multiple, Escobar Type 39
Multiple Pterygium Syndrome Escobar Type 20
Familial Pterygium Syndrome 43
Surfer's Eye 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive multiple pterygium syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients are ambulatory
allelic to multiple pterygium syndrome, lethal type


HPO:

31
multiple pterygium syndrome, escobar variant:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Multiple Pterygium Syndrome, Escobar Variant

MedlinePlus Genetics : 43 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.The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.

MalaCards based summary : Multiple Pterygium Syndrome, Escobar Variant, also known as multiple pterygium syndrome, is related to fetal akinesia deformation sequence 1 and cystic lymphangioma. An important gene associated with Multiple Pterygium Syndrome, Escobar Variant is CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Acetylcholine Binding And Downstream Events. The drugs Hyaluronic acid and Bromfenac have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and testes, and related phenotypes are scoliosis and webbed neck

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

GARD : 20 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.

OMIM® : 57 Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types. (265000) (Updated 05-Apr-2021)

KEGG : 36 The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease.

UniProtKB/Swiss-Prot : 72 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 : 73 Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Related Diseases for Multiple Pterygium Syndrome, Escobar Variant

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

(show top 50) (show all 333)
# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 1 31.9 RAPSN DOK7 CHRNG CHRND CHRNB1 CHRNA1
2 cystic lymphangioma 31.1 ERCC6 CHRNG CHRND CHRNA1
3 congenital contractures 30.7 TNNT3 CHRNG
4 distal arthrogryposis 30.5 TPM2 TNNT3 TNNI2 RAPSN MYH3 CHRNG
5 oligohydramnios 30.4 CHRNG CHRND CHRNA1
6 ptosis 30.4 RAPSN PISRT1 DOK7 CHRNG CHRND CHRNB1
7 multiple pterygium syndrome, lethal type 30.4 TIGD1 RAPSN CHRNG CHRND CHRNA1
8 spondylocarpotarsal synostosis syndrome 30.2 TNNT3 TNNI2 MYH3 CHRNG
9 neuromuscular disease 30.2 RAPSN ERCC6 DOK7 CHRNG CHRND CHRNB1
10 myasthenia gravis 30.1 RAPSN CHRNG CHRNA1
11 congenital myasthenic syndrome 29.8 TPM2 TP53 RAPSN ERCC6 DOK7 CHRNG
12 popliteal pterygium syndrome 11.9
13 bartsocas-papas syndrome 11.8
14 multiple pterygium syndrome, x-linked 11.6
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 11.5
16 pterygium of conjunctiva and cornea 11.4
17 pterygium, antecubital 11.4
18 double pterygium 11.3
19 noonan syndrome 1 11.3
20 central pterygium 11.2
21 progressive peripheral pterygium 11.2
22 van der woude syndrome 1 11.2
23 pterygium colli and mental retardation with facial and digital anomalies 11.1
24 irf6-related disorders 11.0
25 restrictive dermopathy, lethal 11.0
26 fetal akinesia deformation sequence 2 11.0
27 spondylohypoplasia, arthrogryposis and popliteal pterygium 11.0
28 fetal akinesia deformation sequence 3 11.0
29 pseudopterygium 11.0
30 pterygium colli, isolated 10.9
31 bruck syndrome 10.8
32 astigmatism 10.7
33 pinguecula 10.5
34 nevus of ota 10.4 TP53 BRAF
35 microphthalmia, isolated 1 10.4 CHRNG CHRND
36 muscular disease 10.4 TP53 MYH3 ERCC6
37 scleritis 10.4
38 spitz nevus 10.4 TP53 BRAF
39 keratitis, hereditary 10.4
40 slow-channel congenital myasthenic syndrome 10.4 CHRND CHRNB1 CHRNA1
41 myasthenic syndrome, congenital, 1b, fast-channel 10.4 CHRND CHRNA1
42 myasthenic syndrome, congenital, 1a, slow-channel 10.4 CHRND CHRNB1 CHRNA1
43 cleft lip 10.4
44 arthrogryposis, distal, type 5d 10.4 TNNT3 TNNI2 MYH3
45 sclerosteosis 2 10.4 RAPSN DOK7
46 fissured tongue 10.4 TNNT3 TNNI2
47 eye disease 10.4
48 arthrogryposis, distal, type 2b1 10.3 TPM2 TNNT3 TNNI2 MYH3
49 arthrogryposis, distal, type 10 10.3 TPM2 TNNT3 TNNI2 MYH3
50 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.3 TPM2 TNNT3 TNNI2

Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome, Escobar Variant:



Diseases related to Multiple Pterygium Syndrome, Escobar Variant

Symptoms & Phenotypes for Multiple Pterygium Syndrome, Escobar Variant

Human phenotypes related to Multiple Pterygium Syndrome, Escobar Variant:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
3 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
5 symphalangism affecting the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009773
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
7 popliteal pterygium 58 31 hallmark (90%) Very frequent (99-80%) HP:0009756
8 multiple pterygia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001040
9 antecubital pterygium 58 31 hallmark (90%) Very frequent (99-80%) HP:0009760
10 axillary pterygium 31 hallmark (90%) HP:0001060
11 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
15 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
18 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
19 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
20 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
23 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
24 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
25 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
26 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
27 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
28 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
29 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
30 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
31 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
32 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
33 abnormal foot morphology 31 frequent (33%) HP:0001760
34 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
35 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
36 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
37 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
38 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
39 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
40 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
41 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
42 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
43 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
44 nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003764
45 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
46 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
47 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
48 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
49 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
50 rib fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000902

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
anterior clefting of vertebral bodies
fusion of cervical vertebrae

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Growth Height:
short stature

Head And Neck Face:
micrognathia
long face
long philtrum
flat, expressionless face

Head And Neck Neck:
neck pterygia

Respiratory:
neonatal respiratory distress

Genitourinary External Genitalia Male:
hypospadias

Skeletal:
arthrogryposis multiplex congenita

Respiratory Lung:
pulmonary hypoplasia

Genitourinary External Genitalia Female:
absence of labia majora

Chest Diaphragm:
diaphragmatic hernia
eventration of diaphragm

Skin Nails Hair Skin:
pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas

Prenatal Manifestations Movement:
reduced fetal movement

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures
epicanthal folds

Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
cleft palate
downturned corners of mouth
high-arched palate
small mouth
difficulty in opening mouth

Head And Neck Ears:
low-set ears
hearing loss, conductive

Skeletal Feet:
talipes equinovarus
camptodactyly
talipes calcaneovalgus
rocker-bottom feet

Skeletal Hands:
arachnodactyly
camptodactyly
syndactyly

Chest Ribs Sternum Clavicles And Scapulae:
rib fusion
long clavicles

Chest Breasts:
hypoplastic nipples

Skeletal Limbs:
dislocated radial head
dysplastic patella
flexion contractures
absent patella

Neurologic Central Nervous System:
normal intelligence

Skeletal Pelvis:
dislocation of hip

Muscle Soft Tissue:
reduced muscle mass

Prenatal Manifestations Delivery:
intrauterine death

Clinical features from OMIM®:

265000 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.6 RAPSN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 CHRNA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.6 IRF6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.6 CHRNA1 IRF6 RAPSN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 CHRNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.6 IRF6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.6 RAPSN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.6 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.6 IRF6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 CHRNA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 IRF6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 CHRNA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 IRF6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.6 CHRNA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 CHRNA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 CHRNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.6 RAPSN

MGI Mouse Phenotypes related to Multiple Pterygium Syndrome, Escobar Variant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.17 BRAF DNAJC21 ERCC6 IRF6 TNNI2 TNNT3

Drugs & Therapeutics for Multiple Pterygium Syndrome, Escobar Variant

Drugs for Multiple Pterygium Syndrome, Escobar Variant (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
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
6
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
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
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
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 Analgesics, Non-Narcotic Phase 4
18 Pharmaceutical Solutions Phase 4
19 Analgesics Phase 4
20 Ophthalmic Solutions Phase 4
21 Antirheumatic Agents Phase 4
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4
23 Anti-Bacterial Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Cyclosporins Phase 4
26 Dermatologic Agents Phase 4
27 Calcineurin Inhibitors Phase 4
28 Antifungal Agents Phase 4
29 Anti-Allergic Agents Phase 4
30 Adjuvants, Immunologic Phase 4
31 Lubricant Eye Drops Phase 4
32 Viscosupplements Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Neuroprotective Agents Phase 4
35 Gastrointestinal Agents Phase 4
36 Protective Agents Phase 4
37 Hormone Antagonists Phase 4
38 glucocorticoids Phase 4
39 Antiemetics Phase 4
40 Methylprednisolone Acetate Phase 4
41 Hormones Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 BB 1101 Phase 4
44 Angiogenesis Inhibitors Phase 4
45 Antineoplastic Agents, Immunological Phase 4
46 Immunosuppressive Agents Phase 4
47 Immunologic Factors Phase 4
48 Antimetabolites Phase 4
49 Antibodies Phase 4
50 Immunoglobulins 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 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
4 Role of Sub-Conjunctival Bevacizumab in Post Pterygium Excision Management Completed NCT01736449 Phase 4 Bevacizumab
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 Bromfenac Ophthalmic Solution 0.1% for Postoperative Ocular Pain and Inflammation Related To Pterygium Surgery Completed NCT04022811 Phase 4 0.1% bromfenac
7 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
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 Comparison of Cut and Paste With Sutured Autograft Pterygium Excision Unknown status NCT00326560 Phase 3
14 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
15 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
16 Randomized Controlled Trial to Compare Fibrin Glue and Suture in Primary Pterygium Excision With Amniotic Membrane Transplantation Completed NCT00457223 Phase 2, Phase 3
17 Intralesional Ranibizumab on Pterygium Vascularity, Size and Recurrence Rate: a Pilot Study Completed NCT02342392 Phase 2, Phase 3 ranibizumab
18 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%
19 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
20 Study of the Safety and Effectiveness of the OculusGen Collagen Matrix Implant as an Aid in Glaucoma and Pterygium Surgery Completed NCT00321035 Phase 3
21 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
22 Evaluation of Tranilast as Adjunctive Therapy Before Primary Pterygium Excision Compared With Conjunctival Autograft Completed NCT01003613 Phase 3 Tranilast, and Tissucol
23 Pterygium Treatment Using Single Beta-therapy as Adjuvant Treatment Compared to Conjunctival Autograft Completed NCT01024257 Phase 3
24 Interventional Trial of Subconjunctival Bevacizumab in Recurrent Pterygium Completed NCT01744756 Phase 2, Phase 3 Bevacizumab
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 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
32 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
33 Safety and Efficacy of Cyclosporine Ophthalmic Emulsion in Patients With Primary Pterygium Completed NCT01109056 Phase 2 cyclosporine ophthalmic emulsion 0.05%;Vehicle
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 Tissue Engineering Conjunctiva Transplantation and Conjunctival Sac Formation for the Treatment of Pterygium and Atretoblepharia Unknown status NCT02911532
41 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%
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 Controlled Trial Comparing Bandage Contact Lens and Oral Analgesics Versus Patching and Oral Analgesics for Pain Following Pterygium Surgery Unknown status NCT01249235
50 Prospective Randomized Pilot Study Comparing the Surgical Times Between Inferior Versus Superior Conjunctival Autografts for Primary Pterygia Unknown status NCT01261455

Search NIH Clinical Center for Multiple Pterygium Syndrome, Escobar Variant

Cochrane evidence based reviews: multiple pterygium syndrome

Genetic Tests for Multiple Pterygium Syndrome, Escobar Variant

Genetic tests related to Multiple Pterygium Syndrome, Escobar Variant:

# Genetic test Affiliating Genes
1 Autosomal Recessive Multiple Pterygium Syndrome 29 CHRNG

Anatomical Context for Multiple Pterygium Syndrome, Escobar Variant

MalaCards organs/tissues related to Multiple Pterygium Syndrome, Escobar Variant:

40
Eye, Lung, Testes, Skeletal Muscle, Tongue, Heart, Endothelial

Publications for Multiple Pterygium Syndrome, Escobar Variant

Articles related to Multiple Pterygium Syndrome, Escobar Variant:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. 57 6 61
25608830 2015
2
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 6 57 61
16826531 2006
3
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. 61 6 57
15704180 2005
4
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 6 57
16826520 2006
5
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 6 61
22167768 2012
6
Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation. 57 61
17431910 2007
7
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? 61 57
16964621 2006
8
Two sisters with Escobar syndrome. 61 57
7677145 1995
9
Lingua cochlearis in multiple pterygium syndrome. 57 61
8267008 1993
10
Multiple pterygium syndrome: a relatively common disorder among Arabs. 57 61
2074567 1990
11
Multiple pterygium syndrome. An overview. 57 61
3289375 1988
12
Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood. 57 61
3409934 1988
13
Multiple pterygium syndrome: evolution of the phenotype. 61 57
3430553 1987
14
Limb pterygium syndromes: a review and report of eleven patients. 57 61
7124793 1982
15
Multiple pterygium syndrome. 61 57
7468651 1980
16
Multiple pterygium syndrome. 57 61
655146 1978
17
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6
26752647 2016
18
A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family. 57
16158430 2005
19
Familial pterygium syndrome. 57
7460367 1980
20
Pterygium syndrome. 57
933128 1976
21
[Observations on the Prune-Belly syndrome]. 57
124115 1975
22
Arthrogryposis multiplex congenita. Case report of two siblings. 57
4881898 1968
23
Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene. 20
25411939 2015
24
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. 61
33190635 2020
25
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. 61
32902138 2020
26
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy. 61
33558124 2020
27
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. 61
33060286 2020
28
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. 61
32092148 2020
29
Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages. 61
31512356 2019
30
Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up. 61
30654650 2019
31
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 61
31059209 2019
32
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. 61
30868735 2019
33
Lethal multiple pterygium syndrome. 61
31068350 2019
34
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. 61
30652412 2019
35
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor. 61
32587836 2019
36
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses. 61
29891879 2018
37
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. 61
29399782 2018
38
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report. 61
27987045 2017
39
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. 61
28336317 2017
40
Anaesthetic management of a patient with multiple pterygium syndrome for elective caesarean section. 61
28684141 2017
41
Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome. 61
27902173 2016
42
[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature]. 61
28267910 2016
43
Multiple pterygium syndrome: Challenge for anesthesiologist. 61
27375397 2016
44
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. 61
27245440 2016
45
Lethal multiple pterygium syndrome. 61
27843868 2016
46
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. 61
26932181 2016
47
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 61
25957469 2015
48
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 61
25476234 2014
49
[Fetal Escobar syndrome--a case report]. 61
25219146 2014
50
Nonlethal multiple pterygium syndrome: Escobar syndrome. 61
24472885 2014

Variations for Multiple Pterygium Syndrome, Escobar Variant

ClinVar genetic disease variations for Multiple Pterygium Syndrome, Escobar Variant:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNG NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) Duplication Pathogenic 18338 rs863223313 GRCh37: 2:233405370-233405371
GRCh38: 2:232540660-232540661
2 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) SNV Pathogenic 18339 rs121912671 GRCh37: 2:233410280-233410280
GRCh38: 2:232545570-232545570
3 CHRNG NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) SNV Pathogenic 18340 rs267606726 GRCh37: 2:233405391-233405391
GRCh38: 2:232540681-232540681
4 CHRNG NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) SNV Pathogenic 18341 rs121912672 GRCh37: 2:233404782-233404782
GRCh38: 2:232540072-232540072
5 CHRNG CHRNG, 1-BP DUP, 459A Duplication Pathogenic 29583 GRCh37:
GRCh38:
6 CHRNG NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) SNV Pathogenic 217751 rs765746795 GRCh37: 2:233406161-233406161
GRCh38: 2:232541451-232541451
7 CHRNG NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) SNV Pathogenic 18336 rs267606725 GRCh37: 2:233404470-233404470
GRCh38: 2:232539760-232539760
8 CHRNG NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) SNV Pathogenic 816828 rs1574643342 GRCh37: 2:233405312-233405312
GRCh38: 2:232540602-232540602
9 CHRNG NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) SNV Pathogenic 548021 rs764266722 GRCh37: 2:233405097-233405097
GRCh38: 2:232540387-232540387
10 DNAJC21 NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) SNV Pathogenic 598950 rs771063992 GRCh37: 5:34937536-34937536
GRCh38: 5:34937431-34937431
11 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) SNV Pathogenic 930743 GRCh37: 2:233409184-233409184
GRCh38: 2:232544474-232544474
12 CHRNG NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) Deletion Pathogenic 419026 rs747067203 GRCh37: 2:233406134-233406135
GRCh38: 2:232541424-232541425
13 CHRNG NM_005199.5(CHRNG):c.753_754del (p.Val253fs) Deletion Pathogenic 18342 rs767503038 GRCh37: 2:233407740-233407741
GRCh38: 2:232543030-232543031
14 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp) SNV Pathogenic 12347 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
15 CHRNG NM_005199.5(CHRNG):c.459dup (p.Val154fs) Duplication Pathogenic 449338 rs774279192 GRCh37: 2:233406191-233406192
GRCh38: 2:232541481-232541482
16 CHRNG NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) SNV Pathogenic/Likely pathogenic 18337 rs121912670 GRCh37: 2:233407702-233407702
GRCh38: 2:232542992-232542992
17 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Likely pathogenic 13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
18 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1364_1365AG[1] (p.His457fs) Microsatellite Likely pathogenic 800757 rs1309599304 GRCh37: 2:233409596-233409597
GRCh38: 2:232544886-232544887
19 CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) SNV Likely pathogenic 397615 rs777219451 GRCh37: 2:233405327-233405327
GRCh38: 2:232540617-232540617
20 CHRNG NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) SNV Uncertain significance 376837 rs148468628 GRCh37: 2:233404771-233404771
GRCh38: 2:232540061-232540061
21 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
22 PRKAG2 NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) SNV Uncertain significance 374128 rs368637364 GRCh37: 7:151372600-151372600
GRCh38: 7:151675514-151675514
23 CHRNG NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) SNV Uncertain significance 423846 rs186589083 GRCh37: 2:233404776-233404776
GRCh38: 2:232540066-232540066
24 CHRNG NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) SNV Uncertain significance 1031515 GRCh37: 2:233404783-233404783
GRCh38: 2:232540073-232540073
25 CHRNG NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) SNV Uncertain significance 335008 rs554907332 GRCh37: 2:233408404-233408404
GRCh38: 2:232543694-232543694
26 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) SNV Uncertain significance 235605 rs71421651 GRCh37: 2:233410388-233410388
GRCh38: 2:232545678-232545678
27 CHRNG , TIGD1 NM_005199.5(CHRNG):c.*591_*592insTT Insertion Uncertain significance 335025 rs1553578776 GRCh37: 2:233411016-233411017
GRCh38: 2:232546306-232546307
28 CHRNG NM_005199.5(CHRNG):c.806-13C>T SNV Uncertain significance 335006 rs375760045 GRCh37: 2:233407972-233407972
GRCh38: 2:232543262-232543262
29 CHRNG , TIGD1 NM_005199.5(CHRNG):c.*589_*590dup Duplication Uncertain significance 335024 rs1553578775 GRCh37: 2:233411014-233411015
GRCh38: 2:232546304-232546305
30 CHRNG NM_005199.5(CHRNG):c.471C>T (p.Phe157=) SNV Uncertain significance 259668 rs143272752 GRCh37: 2:233406204-233406204
GRCh38: 2:232541494-232541494
31 CHRNG , TIGD1 NM_005199.5(CHRNG):c.*609_*612dup Duplication Uncertain significance 335028 rs57021172 GRCh37: 2:233411018-233411019
GRCh38: 2:232546308-232546309
32 CHRNG NM_005199.5(CHRNG):c.543G>A (p.Gln181=) SNV Uncertain significance 259669 rs753990044 GRCh37: 2:233407169-233407169
GRCh38: 2:232542459-232542459
33 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) SNV Uncertain significance 335011 rs760473901 GRCh37: 2:233409254-233409254
GRCh38: 2:232544544-232544544
34 CHRNG NM_005199.5(CHRNG):c.57G>C (p.Gly19=) SNV Uncertain significance 334998 rs753421728 GRCh37: 2:233404703-233404703
GRCh38: 2:232539993-232539993
35 CHRNG , TIGD1 NM_005199.5(CHRNG):c.*126C>T SNV Uncertain significance 335018 rs369614677 GRCh37: 2:233410552-233410552
GRCh38: 2:232545842-232545842
36 CHRND NM_000751.3(CHRND):c.*149A>G SNV Uncertain significance 334979 rs114315112 GRCh37: 2:233400171-233400171
GRCh38: 2:232535461-232535461
37 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) SNV Uncertain significance 335014 rs138232636 GRCh37: 2:233409610-233409610
GRCh38: 2:232544900-232544900
38 CHRND NM_000751.3(CHRND):c.*623_*627dup Duplication Uncertain significance 334987 rs886055785 GRCh37: 2:233400643-233400644
GRCh38: 2:232535933-232535934
39 CHRND NM_000751.3(CHRND):c.*144_*145insAG Insertion Uncertain significance 334977 rs530814490 GRCh37: 2:233400165-233400166
GRCh38: 2:232535455-232535456
40 CHRNA1 NM_000079.4(CHRNA1):c.779-12del Deletion Uncertain significance 332444 rs67309103 GRCh37: 2:175614909-175614909
GRCh38: 2:174750181-174750181
41 CHRNG NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) SNV Uncertain significance 433175 rs771588131 GRCh37: 2:233405321-233405321
GRCh38: 2:232540611-232540611
42 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) SNV Uncertain significance 235269 rs145433186 GRCh37: 2:233409156-233409156
GRCh38: 2:232544446-232544446
43 CHRNG NM_005199.5(CHRNG):c.951C>A (p.Ile317=) SNV Uncertain significance 199105 rs75369104 GRCh37: 2:233408325-233408325
GRCh38: 2:232543615-232543615
44 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) SNV Uncertain significance 335015 rs764228635 GRCh37: 2:233410295-233410295
GRCh38: 2:232545585-232545585
45 CHRNG NM_005199.5(CHRNG):c.357C>T (p.Asp119=) SNV Uncertain significance 335001 rs749995118 GRCh37: 2:233406090-233406090
GRCh38: 2:232541380-232541380
46 CHRNG NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) SNV Uncertain significance 335007 rs145830034 GRCh37: 2:233408302-233408302
GRCh38: 2:232543592-232543592
47 CHRNG NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) SNV Uncertain significance 335003 rs756232748 GRCh37: 2:233406193-233406193
GRCh38: 2:232541483-232541483
48 CHRNG NM_005199.5(CHRNG):c.474C>T (p.Pro158=) SNV Uncertain significance 335004 rs145907618 GRCh37: 2:233406207-233406207
GRCh38: 2:232541497-232541497
49 CHRNG , TIGD1 NM_005199.5(CHRNG):c.*611_*612dup Duplication Uncertain significance 335027 rs57021172 GRCh37: 2:233411018-233411019
GRCh38: 2:232546308-232546309
50 CHRNA1 NM_001039523.3(CHRNA1):c.854-12_854-11del Deletion Uncertain significance 332443 rs1491478953 GRCh37: 2:175614908-175614909
GRCh38: 2:174750180-174750181

UniProtKB/Swiss-Prot genetic disease variations for Multiple Pterygium Syndrome, Escobar Variant:

72
# Symbol AA change Variation ID SNP ID
1 CHRNG p.Val107Gly VAR_030753 rs267606726
2 CHRNG p.Arg239Cys VAR_030755 rs121912670

Expression for Multiple Pterygium Syndrome, Escobar Variant

Search GEO for disease gene expression data for Multiple Pterygium Syndrome, Escobar Variant.

Pathways for Multiple Pterygium Syndrome, Escobar Variant

Pathways related to Multiple Pterygium Syndrome, Escobar Variant according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

GO Terms for Multiple Pterygium Syndrome, Escobar Variant

Cellular components related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.91 RAPSN DOK7 CHRNG CHRND CHRNB1 CHRNA1
2 cell junction GO:0030054 9.87 RAPSN IRF6 DOK7 CHRNG CHRND CHRNB1
3 neuron projection GO:0043005 9.77 CHRNG CHRND CHRNB1 CHRNA1 BRAF
4 postsynaptic membrane GO:0045211 9.55 RAPSN CHRNG CHRND CHRNB1 CHRNA1
5 integral component of postsynaptic specialization membrane GO:0099060 9.43 CHRND CHRNB1 CHRNA1
6 troponin complex GO:0005861 9.4 TNNT3 TNNI2
7 neuromuscular junction GO:0031594 9.26 RAPSN CHRND CHRNB1 CHRNA1
8 acetylcholine-gated channel complex GO:0005892 8.8 CHRND CHRNB1 CHRNA1

Biological processes related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.84 CHRNG CHRND CHRNB1 CHRNA1
2 chemical synaptic transmission GO:0007268 9.83 RAPSN CHRNG CHRND CHRNB1 CHRNA1
3 regulation of membrane potential GO:0042391 9.76 CHRNG CHRND CHRNB1 CHRNA1
4 excitatory postsynaptic potential GO:0060079 9.71 CHRNG CHRND CHRNB1 CHRNA1
5 cation transport GO:0006812 9.7 CHRND CHRNB1 CHRNA1
6 nervous system process GO:0050877 9.67 CHRNG CHRND CHRNB1 CHRNA1
7 regulation of postsynaptic membrane potential GO:0060078 9.62 CHRNG CHRND CHRNB1 CHRNA1
8 response to X-ray GO:0010165 9.56 TP53 ERCC6
9 muscle filament sliding GO:0030049 9.56 TPM2 TNNT3 TNNI2 MYH3
10 regulation of muscle contraction GO:0006937 9.55 TNNT3 TNNI2
11 regulation of ATPase activity GO:0043462 9.51 TPM2 TNNT3
12 musculoskeletal movement GO:0050881 9.49 CHRND CHRNA1
13 skeletal muscle tissue growth GO:0048630 9.48 CHRND CHRNA1
14 synaptic transmission, cholinergic GO:0007271 9.46 RAPSN CHRNG CHRNB1 CHRNA1
15 muscle contraction GO:0006936 9.43 TPM2 TNNT3 TNNI2 CHRNG CHRND CHRNB1
16 skeletal muscle contraction GO:0003009 9.1 TNNT3 TNNI2 MYH3 CHRND CHRNB1 CHRNA1

Molecular functions related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 CHRNG CHRND CHRNB1 CHRNA1
2 ion channel activity GO:0005216 9.71 CHRNG CHRND CHRNB1 CHRNA1
3 neurotransmitter receptor activity GO:0030594 9.62 CHRNG CHRND CHRNB1 CHRNA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.54 CHRND CHRNB1 CHRNA1
5 acetylcholine receptor activity GO:0015464 9.43 CHRNG CHRNB1 CHRNA1
6 acetylcholine binding GO:0042166 9.33 CHRND CHRNB1 CHRNA1
7 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNG CHRND CHRNB1 CHRNA1
8 acetylcholine-gated cation-selective channel activity GO:0022848 8.92 CHRNG CHRND CHRNB1 CHRNA1

Sources for Multiple Pterygium Syndrome, Escobar Variant

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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