LMPS
MCID: MLT134
MIFTS: 56

Multiple Pterygium Syndrome, Lethal Type (LMPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

MalaCards integrated aliases for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 57 72 13 39 70
Lethal Multiple Pterygium Syndrome 20 58 29 6
Lmps 57 20 58 72
Autosomal Recessive Lethal Multiple Pterygium Syndrome 58
Pterygium Syndrome, Multiple, Lethal Type 57
Multiple Pterygium Syndrome Lethal Type 20
Pterygium Syndrome Multiple Lethal Type 20

Characteristics:

Orphanet epidemiological data:

58
lethal multiple pterygium syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

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

Miscellaneous:
lethal


HPO:

31
multiple pterygium syndrome, lethal type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Multiple Pterygium Syndrome, Lethal Type

GARD : 20 Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.

MalaCards based summary : Multiple Pterygium Syndrome, Lethal Type, also known as lethal multiple pterygium syndrome, is related to cystic lymphangioma and congenital contractures, and has symptoms including edema An important gene associated with Multiple Pterygium Syndrome, Lethal Type is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways/superpathways are CREB Pathway and Acetylcholine Binding And Downstream Events. The drugs Mifepristone and Misoprostol have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and endothelial, and related phenotypes are hypertelorism and abnormal facial shape

UniProtKB/Swiss-Prot : 72 Multiple pterygium syndrome, lethal type: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.

More information from OMIM: 253290

Related Diseases for Multiple Pterygium Syndrome, Lethal Type

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 cystic lymphangioma 30.6 CHRNG CHRND CHRNA1
2 congenital contractures 29.8 RYR1 CHRNG
3 central core disease of muscle 29.7 RYR1 NEB
4 central core myopathy 29.7 RYR1 NEB
5 hydrops fetalis, nonimmune 29.4 RYR1 RAPSN CHRNA1
6 multiple pterygium syndrome, escobar variant 29.3 TIGD1 RYR1 RAPSN NEB CHRNG CHRND
7 myasthenia gravis 29.1 RYR1 RAPSN CHRNG CHRNA1
8 fetal akinesia deformation sequence 1 28.8 RYR1 RAPSN CHRNG CHRND CHRNA1
9 neuromuscular disease 28.3 RYR1 RAPSN NEB CHRNG CHRND CHRNA1
10 multiple pterygium syndrome, x-linked 11.7
11 restrictive dermopathy, lethal 11.3
12 cleft palate, isolated 10.4
13 myopathy 10.2
14 muscular atrophy 10.2
15 congenital amyoplasia 10.2
16 microphthalmia, isolated 1 10.1 CHRNG CHRND
17 myasthenic syndrome, congenital, 1b, fast-channel 10.1 CHRND CHRNA1
18 leukemia, chronic lymphocytic 10.1
19 slow-channel congenital myasthenic syndrome 10.1 CHRND CHRNA1
20 myasthenic syndrome, congenital, 1a, slow-channel 10.1 CHRND CHRNA1
21 hypertelorism 10.0
22 malignant hyperthermia 1 10.0
23 cryptorchidism, unilateral or bilateral 10.0
24 glycogen storage disease iv 10.0
25 minicore myopathy with external ophthalmoplegia 10.0
26 nemaline myopathy 2 10.0
27 bartsocas-papas syndrome 10.0
28 lymphatic malformation 7 10.0
29 scoliosis 10.0
30 omphalocele 10.0
31 intestinal atresia 10.0
32 microcephaly 10.0
33 glycogen storage disease 10.0
34 hydranencephaly 10.0
35 polyhydramnios 10.0
36 cleft lip 10.0
37 muscular dystrophy 10.0
38 triploidy 10.0
39 uniparental disomy of chromosome 2 10.0
40 multiminicore disease 10.0
41 glycogen storage disease due to glycogen branching enzyme deficiency 10.0
42 cleft lip/palate 10.0
43 nasopharyngeal carcinoma 9.9
44 pulmonary emphysema 9.9
45 oligohydramnios 9.9 CHRNG CHRND CHRNA1
46 tobacco addiction 9.9 CHRNG CHRND CHRNA1
47 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 RYR1 CHRND
48 postsynaptic congenital myasthenic syndromes 9.8 RAPSN CHRND CHRNA1
49 myasthenic syndrome, congenital, 13 9.8 RAPSN CHRND CHRNA1
50 paramyotonia congenita of von eulenburg 9.8 RYR1 CHRND

Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome, Lethal Type:



Diseases related to Multiple Pterygium Syndrome, Lethal Type

Symptoms & Phenotypes for Multiple Pterygium Syndrome, Lethal Type

Human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 abnormal facial shape 31 HP:0001999
3 flexion contracture 31 HP:0001371
4 cleft palate 31 HP:0000175
5 intrauterine growth retardation 31 HP:0001511
6 micrognathia 31 HP:0000347
7 low-set ears 31 HP:0000369
8 epicanthus 31 HP:0000286
9 cystic hygroma 31 HP:0000476
10 malignant hyperthermia 31 HP:0002047
11 fetal akinesia sequence 31 HP:0001989
12 depressed nasal ridge 31 HP:0000457
13 polyhydramnios 31 HP:0001561
14 joint dislocation 31 HP:0001373
15 short finger 31 HP:0009381
16 vertebral fusion 31 HP:0002948
17 pulmonary hypoplasia 31 HP:0002089
18 thin ribs 31 HP:0000883
19 increased susceptibility to fractures 31 HP:0002659
20 edema 31 HP:0000969
21 akinesia 31 HP:0002304
22 multiple pterygia 31 HP:0001040
23 abnormal cervical curvature 31 HP:0005905
24 amyoplasia 31 HP:0003634
25 hypoplastic heart 31 HP:0001961

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
epicanthal folds

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears

Metabolic Features:
malignant hyperthermia

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal Spine:
abnormal cervical curvature
spinal fusion

Head And Neck Nose:
flat nose

Skeletal:
fractures
congenital bone fusions

Respiratory Lung:
hypoplastic lungs

Muscle Soft Tissue:
generalized amyoplasia

Head And Neck Mouth:
cleft palate
cleft lip/palate

Head And Neck Face:
micrognathia
dysmorphic facies

Head And Neck Neck:
cystic hygroma
jugular lymphatic obstruction sequence

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
multiple pterygia

Cardiovascular Heart:
hypoplastic heart

Skeletal Limbs:
flexion contractures
joint dislocations

Prenatal Manifestations:
hydrops

Skeletal Hands:
microbrachydactyly

Neurologic Central Nervous System:
early severe fetal akinesia sequence

Clinical features from OMIM®:

253290 (Updated 05-Apr-2021)

UMLS symptoms related to Multiple Pterygium Syndrome, Lethal Type:


edema

GenomeRNAi Phenotypes related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.44 RAPSN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.44 CHRNA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.44 CHRNA1 RAPSN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.44 CHRNA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.44 RAPSN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.44 CHRNA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.44 CHRNA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.44 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.44 CHRNA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 CHRNA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.44 CHRNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.44 RAPSN

MGI Mouse Phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CHRNG NEB RAPSN RYR1

Drugs & Therapeutics for Multiple Pterygium Syndrome, Lethal Type

Drugs for Multiple Pterygium Syndrome, Lethal Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
2
Misoprostol Approved Phase 3 59122-46-2 5282381
3 Gastrointestinal Agents Phase 3
4 Contraceptives, Postcoital Phase 3
5 Hormone Antagonists Phase 3
6 Contraceptives, Oral Phase 3
7 Contraceptive Agents Phase 3
8 Hormones Phase 3
9 Anti-Ulcer Agents Phase 3
10 Antacids Phase 3
11
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
12
Belinostat Approved, Investigational Phase 2 866323-14-0
13
rituximab Approved Phase 2 174722-31-7 10201696
14 Analgesics, Non-Narcotic Phase 2
15 Cyclooxygenase 2 Inhibitors Phase 2
16 Analgesics Phase 2
17 Cyclooxygenase Inhibitors Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19 Histone Deacetylase Inhibitors Phase 2
20 Antirheumatic Agents Phase 2
21 Antineoplastic Agents, Immunological Phase 2
22 Immunologic Factors Phase 2
23 Antibodies Phase 2
24 Immunoglobulins, Intravenous Phase 2
25 Immunoglobulins Phase 2
26 Antibodies, Monoclonal Phase 2
27
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
28
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
29
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
30 Vaccines Phase 1
31 Immunosuppressive Agents Phase 1
32 Alkylating Agents Phase 1
33
Fluticasone Approved, Experimental 90566-53-3 62924
34
Benralizumab Approved, Investigational 1044511-01-4
35
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
36 Anti-Inflammatory Agents
37 Neurotransmitter Agents
38 Adrenergic Agonists
39
Salmeterol xinafoate 94749-08-3 56801
40 Adrenergic beta-Agonists
41 Adrenergic Agents
42 Dermatologic Agents
43 Bronchodilator Agents
44 Anti-Allergic Agents
45 Anti-Asthmatic Agents
46 Respiratory System Agents
47 Vitamins
48 Omega 3 Fatty Acid
49 Whey Protein
50 Calciferol

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial to Compare Sublingual and Buccal Misoprostol Regimens After Mifepristone for Termination of Pregnancy 13 - 21 Weeks From Last Menstrual Period (LMP) Unknown status NCT02708446 Phase 4 Mifepristone;Buccal misoprostol;Sublingual misoprostol
2 Acceptability and Feasibility of Medical Abortion in Singapore: A Study of 800 μg Buccal Misoprostol Following 200 mg Mifepristone for Abortion Through 70 Days Gestation Completed NCT02985229 Phase 3 Mifepristone;Misoprostol
3 Mifepristone and Misoprostol for 2nd Trimester Termination of Pregnancy (13-22 Weeks LMP) in Burkina Faso Recruiting NCT03269279 Phase 3 Mifepristone;Misoprostol
4 Mifepristone and Misoprostol Versus Misoprostol Alone for Mid-trimester Termination of Pregnancy (14-21 Weeks LMP): A Randomized-controlled Double-blinded Trial Terminated NCT00957346 Phase 3 Mifepristone+misoprostol;Placebo+Misoprostol
5 Phase II Clinical Trial of Tumour Vaccination By Intradermal Delivery of Autologous Dendritic Cells Transduced With Adenoviral Vector (AD5F35) Expressing Latent Membrane Protein-1 (LMP-1) and Latent Membrane Protein-2 (LMP-2) Genes in Combination With Celecoxib in Patient With Metastatic Nasopharyngeal Carcinoma Unknown status NCT00589186 Phase 2 celecoxib
6 A Phase 2 Study of PXD101 in Platinum Resistant Epithelial Ovarian Tumors and Micropapillary/Borderline (LMP) Ovarian Tumors Completed NCT00301756 Phase 2 Belinostat
7 A Pilot Study of Rituximab (RTX) and Third Party Latent Membrane Protein (LMP)-Specific Cytotoxic T-Lymphocytes (LMP-TC) in Pediatric Solid Organ Recipients (SOT) With EBV-Positive CD20-Positive Post-Transplant Lymphoproliferative Disease (PTLD) Active, not recruiting NCT02900976 Phase 2
8 A Multicenter Pilot Study of Reduced Intensity Allogeneic Stem Cell Transplantation Followed by Adoptive Cellular Immunotherapy With Donor Derived Latent Membrane Protein (LMP) Specific-CTLs in Patients With Epstein-Barr Virus (EBV)Positive Refractory or Recurrent Hodgkin Lymphoma Terminated NCT01636388 Phase 2
9 A Phase 1, Randomised, Single-center, Single-dose, Placebo-controlled, 3-Way Crossover Study to Compare the Pharmacokinetics, Safety and Tolerability of a Lipid Multi-particulate (LMP) Formulation and Spray-dried (SD) Formulations of Tricaprilin (TC) on Ketone Body Production (Part 1). Addendum to Include a 2-way Crossover to Compare the Pharmacokinetics, Safety and Tolerability of Two Spray-dried (SD) Formulations of Tricaprilin (TC) on Ketone Body Production (Part 2) Completed NCT03971123 Phase 1 Tricaprilin;Tricaprilin;Placebo;Tricaprilin
10 Administration of LMP-Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma (ALCI) / Previously Known as: Administration of Neomycin Resistance Gene Marked LMP2A-Specific Cytotoxic T-Lymphocytes to Patents With Relapsed EBV-Positive Lymphoma (ALASCAR) Completed NCT00062868 Phase 1
11 Phase I/II Trial of Latent Membrane Protein (LMP) - 2 Immunization for the Assessment of the Natural History and the Immunization-Induced Immunological Response in Patients at High Risk for Recurrence of Anaplastic Nasopharyngeal Cancer Completed NCT00078494 Phase 1 EBV-LMP-2
12 ADMINISTRATION OF MOST CLOSELY MATCHED THIRD PARTY RAPIDLY GENERATED LMP, BARF1 and EBNA1 SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH EBV-POSITIVE LYMPHOMA AND OTHER EBV-POSITIVE MALIGNANCIES Recruiting NCT02287311 Phase 1 Cyclophosphamide;Fludarabine
13 Administration of TGF-b Resistant LMP-Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma Active, not recruiting NCT00368082 Phase 1
14 ADMINISTRATION OF LMP-SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH RELAPSED EBV-POSITIVE LYMPHOMA Active, not recruiting NCT01956084 Phase 1 LMP1/2 CTLs (Group A);LMP1/2 CTLs (Group B)
15 Effectiveness and Cost-effectiveness of a Lifestyle Modification Program in the Prevention and Treatment of Subclinical, Mild and Moderate Depression in Primary Care: A Randomized Clinical Trial Protocol Completed NCT03951350
16 Post-marketing Safety Study to Assess the Risk of Spontaneous Abortions in Women Exposed to Cervarix in the United Kingdom Completed NCT01905462
17 WEUSRTP4850: Phase II: Asthma Treatment in Pregnancy and the Frequency of Adverse Pregnancy Outcomes Completed NCT01681979 Fluticasone propionate (with and without concurrent salmeterol)
18 Mifepristone and Misoprostol Versus Misoprostol Alone for Mid-trimester Termination of Pregnancy (14 - 21 Weeks LMP): A Randomized-controlled Double-blinded Trial Completed NCT00969982 mifepristone+misoprostol;misoprostol+placebo
19 Mifepristone and Misoprostol for Mid-trimester Termination of Pregnancy (13-22 Weeks LMP) in Armenia Completed NCT01766388
20 Mifepristone and Misoprostol for Mid-trimester Termination of Pregnancy (13-22 Weeks LMP) in Uzbekistan Completed NCT02235155
21 A Randomized Trial of Buccal Compared to Oral Misoprostol Following Mifepristone for Medical Abortion up to 63 Days LMP Completed NCT00386867 800 mcg misoprostol via oral or buccal administration
22 An Open Label Study of 400 mcg Sublingual Misoprostol Following Mifepristone 200 mg for Abortion up to 63 Days LMP Completed NCT01173003 Mifepristone, misoprostol
23 Mifepristone and Misoprostol for Mid-trimester Termination of Pregnancy (13-22 Weeks LMP) in Ukraine Completed NCT02415894
24 Mifepristone and Misoprostol Versus Misoprostol Alone for Mid-trimester Termination of Pregnancy (14 - 21 Weeks LMP): A Randomized-controlled Double-blinded Trial Completed NCT00784186 mifepristone+misoprostol;misoprostol;placebo
25 The Benralizumab Pregnancy Exposure Study: A VAMPSS Post Marketing Surveillance Study Recruiting NCT03794999 Benralizumab-exposure;Exposure to other asthma medications
26 Post-authorization Safety Study for Assessment of Pregnancy Outcomes in Patients Treated With Tildrakizumab Recruiting NCT03992729 Pregnant women exposed to tildrakizumab;Pregnant women not exposed to tildrakizumab
27 Meat and Potato Diet for Enhancing Cardiometabolic Health in Adults Recruiting NCT04203238
28 Prevalence and the Effect of Lifestyle Modification Project (LMP) on Clinical Outcomes and Cost-effectiveness Ratio for Sarcopenia in Chinese Adults and Elderly: a Multicenter Randomized Controlled Trail Recruiting NCT02873676
29 Saving Lives With Better Gestational Age Estimation: Improving the Accuracy of Recall and Reporting of the Date of Last Menstrual Period (LMP) in Rural Bangladesh Active, not recruiting NCT02944747
30 A Randomized Clinical Trial Using a Postnatal Lifestyle Modification Program to Improve Diet, Adiposity and Metabolic Outcome in Mothers With Gestational Diabetes and Their Offspring Active, not recruiting NCT03669887
31 Choice of Modality of Follow up for Medication Abortion Terminated NCT04056637

Search NIH Clinical Center for Multiple Pterygium Syndrome, Lethal Type

Genetic Tests for Multiple Pterygium Syndrome, Lethal Type

Genetic tests related to Multiple Pterygium Syndrome, Lethal Type:

# Genetic test Affiliating Genes
1 Lethal Multiple Pterygium Syndrome 29 CHRNA1 CHRND CHRNG

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

MalaCards organs/tissues related to Multiple Pterygium Syndrome, Lethal Type:

40
Heart, Bone, Endothelial, Lung, B Cells, Brain, Skin

Publications for Multiple Pterygium Syndrome, Lethal Type

Articles related to Multiple Pterygium Syndrome, Lethal Type:

(show top 50) (show all 235)
# Title Authors PMID Year
1
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 57 6 61
18252226 2008
2
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 57 6
16826531 2006
3
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 57 6
16826520 2006
4
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 61 6
22167768 2012
5
Pathogenesis of the lethal multiple pterygium syndrome. 57 61
2309791 1990
6
A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance. 61 57
3425601 1987
7
Lethal multiple pterygium syndrome: three consecutive cases in one family. 57 61
3717212 1986
8
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. 6
29395675 2018
9
Molecular characterization of congenital myasthenic syndromes in Spain. 6
29054425 2017
10
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. 6
28024842 2017
11
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 6
27748205 2017
12
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. 6
25608830 2015
13
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. 6
25264167 2015
14
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 6
24121633 2013
15
Current understanding of congenital myasthenic syndromes. 6
15907919 2005
16
Congenital myasthenic syndromes:gene mutations. 6
14719537 2003
17
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. 6
11782989 2002
18
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 6
11435464 2001
19
Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype? 57
9916854 1999
20
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 6
9158151 1997
21
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 6
8872460 1996
22
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 6
7619526 1995
23
Lethal multiple pterygium syndrome: importance of fetal physical examination. 57
7645590 1995
24
Multiple pterygium syndrome: a case complicated by malignant hyperthermia. 57
3621655 1987
25
Lethal multiple pterygium syndrome. 57
6720747 1984
26
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. 57
6720746 1984
27
Brief clinical report: lethal multiple pterygium syndrome in an 18-week fetus with hydrops. 57
6720748 1984
28
The lethal multiple pterygium syndromes. 57
6539071 1984
29
Pterygium syndrome. 57
933128 1976
30
Identifying enablers and barriers to referral, uptake and completion of lifestyle modification programmes: a rapid literature review. 61
33771830 2021
31
Lymphocytic microparticles suppress retinal angiogenesis via targeting Müller cells in the ischemic retinopathy mouse model. 61
33434529 2021
32
Distribution characteristics of lipophilic marine phycotoxins in the sediment: A case study in Jiaozhou Bay, China. 61
33338928 2021
33
Exercise and Circulating Microparticles in Healthy Subjects. 61
33495962 2021
34
Factors associated with calendar literacy and last menstrual period (LMP) recall: a prospective programmatic implication to maternal health in Bangladesh. 61
33318107 2020
35
Effectiveness and cost-effectiveness of a lifestyle modification programme in the prevention and treatment of subclinical, mild and moderate depression in primary care: a randomised clinical trial protocol. 61
33372070 2020
36
Toxicological effects of microplastics and heavy metals on the Daphnia magna. 61
32768788 2020
37
Morphology and growth of the pediatric lumbar vertebrae. 61
33152510 2020
38
HLA molecule expression on the surface of cells and microparticles in platelet concentrates. 61
33241556 2020
39
Synergistic effects of EMPs and PMPs on pulmonary vascular leakage and lung injury after ischemia/reperfusion. 61
33225929 2020
40
Gallium-Based Liquid Metal Particles for Therapeutics. 61
33199046 2020
41
DNA methylation enzymes and PRC1 restrict B-cell Epstein-Barr virus oncoprotein expression. 61
32424339 2020
42
[Early diagnostic value of circulating microparticles in super-elderly patients with infection]. 61
32684213 2020
43
Increased microparticle levels in middle-aged and elderly patients with insomnia may be involved in the pathogenesis of arteriosclerosis. 61
32052947 2020
44
Functional interplay of Epstein-Barr virus oncoproteins in a mouse model of B cell lymphomagenesis. 61
32522871 2020
45
Papillary urothelial neoplasm of low malignant potential (PUN-LMP): Still a meaningful histo-pathological grade category for Ta, noninvasive bladder tumors in 2019? 61
31704141 2020
46
Ga-Based Liquid Metal Micro/Nanoparticles: Recent Advances and Applications. 61
31583849 2020
47
In Vitro Benchmarking Study of Ventricular Assist Devices in Current Clinical Use. 61
31593759 2020
48
Ultrasound-Guided Inactivation of Trigger Points Combined with Muscle Fascia Stripping by Liquid Knife in Treatment of Postherpetic Neuralgia Complicated with Abdominal Myofascial Pain Syndrome: A Prospective and Controlled Clinical Study. 61
32509046 2020
49
Polyvinyl Alcohol-Stabilized Liquid Metal Hydrogel for Wearable Transient Epidermal Sensors. 61
31755694 2019
50
Comparative study on gelling properties of low methoxyl pectin prepared by high hydrostatic pressure-assisted enzymatic, atmospheric enzymatic, and alkaline de-esterification. 61
31582075 2019

Variations for Multiple Pterygium Syndrome, Lethal Type

ClinVar genetic disease variations for Multiple Pterygium Syndrome, Lethal Type:

6 (show top 50) (show all 411)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNG NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) SNV Pathogenic 18337 rs121912670 GRCh37: 2:233407702-233407702
GRCh38: 2:232542992-232542992
2 CHRNG NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) SNV Pathogenic 18340 rs267606726 GRCh37: 2:233405391-233405391
GRCh38: 2:232540681-232540681
3 CHRND NM_000751.3(CHRND):c.283T>C (p.Phe95Leu) SNV Pathogenic 18369 rs121909506 GRCh37: 2:233393011-233393011
GRCh38: 2:232528301-232528301
4 CHRND NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter) SNV Pathogenic 18370 rs121909507 GRCh37: 2:233399858-233399858
GRCh38: 2:232535148-232535148
5 CHRNA1 NM_001039523.3(CHRNA1):c.761G>T (p.Arg254Leu) SNV Pathogenic 18388 rs137852809 GRCh37: 2:175618323-175618323
GRCh38: 2:174753595-174753595
6 CHRNA1 CHRNA1, 17-BP DUP, NT117 Duplication Pathogenic 18389 GRCh37:
GRCh38:
7 CHRNG CHRNG, 1-BP DUP, 459A Duplication Pathogenic 29583 GRCh37:
GRCh38:
8 CHRNA1 NM_001039523.3(CHRNA1):c.786C>A (p.Asn262Lys) SNV Pathogenic 466184 rs137852798 GRCh37: 2:175618298-175618298
GRCh38: 2:174753570-174753570
9 CHRNA1 NC_000002.12:g.(?_174747592)_(174754414_?)del Deletion Pathogenic 466174 GRCh37:
GRCh38: 2:174747592-174754414
10 CHRNG , TIGD1 NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter) SNV Pathogenic 487641 rs1553578312 GRCh37: 2:233409251-233409251
GRCh38: 2:232544541-232544541
11 CHRNA1 NM_001039523.3(CHRNA1):c.592G>A (p.Gly198Ser) SNV Pathogenic 18379 rs137852801 GRCh37: 2:175618970-175618970
GRCh38: 2:174754242-174754242
12 CHRNG NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) SNV Pathogenic 548021 rs764266722 GRCh37: 2:233405097-233405097
GRCh38: 2:232540387-232540387
13 CHRND NM_000751.3(CHRND):c.521_524dup (p.Ala176fs) Duplication Pathogenic 657502 rs1574630951 GRCh37: 2:233393582-233393583
GRCh38: 2:232528872-232528873
14 CHRNA1 NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) SNV Pathogenic 863215 GRCh37: 2:175619117-175619117
GRCh38: 2:174754389-174754389
15 CHRNA1 NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) SNV Pathogenic 956393 GRCh37: 2:175614832-175614832
GRCh38: 2:174750104-174750104
16 CHRND NM_000751.3(CHRND):c.389A>T (p.Asn130Ile) SNV Pathogenic 585670 rs1553574327 GRCh37: 2:233393246-233393246
GRCh38: 2:232528536-232528536
17 CHRNA1 NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) SNV Pathogenic 449923 rs768407867 GRCh37: 2:175612905-175612905
GRCh38: 2:174748177-174748177
18 CHRNA1 NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) Deletion Pathogenic 997491 GRCh37: 2:175613471-175613471
GRCh38: 2:174748743-174748743
19 CHRNA1 NM_000079.4(CHRNA1):c.4G>T (p.Glu2Ter) SNV Pathogenic 997618 GRCh37: 2:175629119-175629119
GRCh38: 2:174764391-174764391
20 CHRND NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) SNV Pathogenic 18368 rs121909505 GRCh37: 2:233392146-233392146
GRCh38: 2:232527436-232527436
21 CHRNA1 NM_000079.4(CHRNA1):c.3G>A (p.Met1Ile) SNV Pathogenic 998345 GRCh37: 2:175629120-175629120
GRCh38: 2:174764392-174764392
22 CHRNG NM_005199.5(CHRNG):c.753_754del (p.Val253fs) Deletion Pathogenic 18342 rs767503038 GRCh37: 2:233407740-233407741
GRCh38: 2:232543030-232543031
23 CHRND NM_000751.3(CHRND):c.730C>T (p.Arg244Cys) SNV Likely pathogenic 585671 rs376642208 GRCh37: 2:233394759-233394759
GRCh38: 2:232530049-232530049
24 CHRND NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) SNV Likely pathogenic 18363 rs121909502 GRCh37: 2:233396107-233396107
GRCh38: 2:232531397-232531397
25 CHRND NM_000751.3(CHRND):c.821-2A>C SNV Likely pathogenic 645129 rs762875734 GRCh37: 2:233396060-233396060
GRCh38: 2:232531350-232531350
26 CHRND NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln) SNV Likely pathogenic 801910 rs375623674 GRCh37: 2:233396326-233396326
GRCh38: 2:232531616-232531616
27 CHRNA1 NM_000079.4(CHRNA1):c.779-1_779insA Insertion Likely pathogenic 835942 GRCh37: 2:175614897-175614898
GRCh38: 2:174750169-174750170
28 CHRND NM_000751.3(CHRND):c.1372_1373GA[1] (p.Lys459fs) Microsatellite Likely pathogenic 402225 rs1060499782 GRCh37: 2:233399840-233399841
GRCh38: 2:232535130-232535131
29 CHRND NM_000751.3(CHRND):c.411C>T (p.Gly137=) SNV Conflicting interpretations of pathogenicity 334964 rs373578965 GRCh37: 2:233393268-233393268
GRCh38: 2:232528558-232528558
30 CHRND NM_000751.3(CHRND):c.45G>A (p.Ala15=) SNV Conflicting interpretations of pathogenicity 466194 rs138609765 GRCh37: 2:233390970-233390970
GRCh38: 2:232526260-232526260
31 CHRND NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) SNV Conflicting interpretations of pathogenicity 534533 rs749866545 GRCh37: 2:233398720-233398720
GRCh38: 2:232534010-232534010
32 CHRNA1 NM_001039523.3(CHRNA1):c.987C>T (p.Phe329=) SNV Conflicting interpretations of pathogenicity 466185 rs373005571 GRCh37: 2:175614764-175614764
GRCh38: 2:174750036-174750036
33 CHRND NM_000751.3(CHRND):c.480C>T (p.Phe160=) SNV Conflicting interpretations of pathogenicity 714461 rs200986300 GRCh37: 2:233393337-233393337
GRCh38: 2:232528627-232528627
34 CHRND NM_000751.3(CHRND):c.525G>A (p.Thr175=) SNV Conflicting interpretations of pathogenicity 334966 rs56203086 GRCh37: 2:233393587-233393587
GRCh38: 2:232528877-232528877
35 CHRNA1 NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) SNV Conflicting interpretations of pathogenicity 332442 rs374093236 GRCh37: 2:175614863-175614863
GRCh38: 2:174750135-174750135
36 CHRND NM_000751.3(CHRND):c.1253-9C>T SNV Conflicting interpretations of pathogenicity 334972 rs2853458 GRCh37: 2:233398925-233398925
GRCh38: 2:232534215-232534215
37 CHRNA1 NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) SNV Conflicting interpretations of pathogenicity 332437 rs146899588 GRCh37: 2:175612933-175612933
GRCh38: 2:174748205-174748205
38 CHRNA1 NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) SNV Conflicting interpretations of pathogenicity 332436 rs151081792 GRCh37: 2:175612932-175612932
GRCh38: 2:174748204-174748204
39 CHRND NM_000751.3(CHRND):c.651G>A (p.Pro217=) SNV Conflicting interpretations of pathogenicity 334967 rs146205427 GRCh37: 2:233394680-233394680
GRCh38: 2:232529970-232529970
40 CHRND NM_000751.3(CHRND):c.1253-10T>G SNV Conflicting interpretations of pathogenicity 334971 rs199508773 GRCh37: 2:233398924-233398924
GRCh38: 2:232534214-232534214
41 CHRNA1 NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) SNV Conflicting interpretations of pathogenicity 332438 rs17838545 GRCh37: 2:175612978-175612978
GRCh38: 2:174748250-174748250
42 CHRNA1 NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) SNV Conflicting interpretations of pathogenicity 332435 rs771587252 GRCh37: 2:175612894-175612894
GRCh38: 2:174748166-174748166
43 CHRNA1 NM_001039523.3(CHRNA1):c.1077+9G>A SNV Conflicting interpretations of pathogenicity 332441 rs368959759 GRCh37: 2:175614665-175614665
GRCh38: 2:174749937-174749937
44 CHRND NM_000751.3(CHRND):c.1455A>G (p.Thr485=) SNV Conflicting interpretations of pathogenicity 534539 rs756537437 GRCh37: 2:233399923-233399923
GRCh38: 2:232535213-232535213
45 CHRNA1 NM_001039523.3(CHRNA1):c.224G>A (p.Arg75His) SNV Conflicting interpretations of pathogenicity 332450 rs147488907 GRCh37: 2:175624069-175624069
GRCh38: 2:174759341-174759341
46 CHRND NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) SNV Conflicting interpretations of pathogenicity 466190 rs144433265 GRCh37: 2:233399048-233399048
GRCh38: 2:232534338-232534338
47 CHRND NM_000751.3(CHRND):c.414C>T (p.Phe138=) SNV Conflicting interpretations of pathogenicity 385691 rs150208750 GRCh37: 2:233393271-233393271
GRCh38: 2:232528561-232528561
48 CHRND NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) SNV Conflicting interpretations of pathogenicity 281423 rs142063328 GRCh37: 2:233396160-233396160
GRCh38: 2:232531450-232531450
49 CHRNA1 NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) SNV Conflicting interpretations of pathogenicity 894737 GRCh37: 2:175629121-175629121
GRCh38: 2:174764393-174764393
50 CHRND NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp) SNV Uncertain significance 935357 GRCh37: 2:233398971-233398971
GRCh38: 2:232534261-232534261

UniProtKB/Swiss-Prot genetic disease variations for Multiple Pterygium Syndrome, Lethal Type:

72
# Symbol AA change Variation ID SNP ID
1 CHRNA1 p.Arg254Leu VAR_043904 rs137852809
2 CHRND p.Phe95Leu VAR_043905 rs121909506
3 CHRNG p.Val107Gly VAR_030753 rs267606726
4 CHRNG p.Arg239Cys VAR_030755 rs121912670

Expression for Multiple Pterygium Syndrome, Lethal Type

Search GEO for disease gene expression data for Multiple Pterygium Syndrome, Lethal Type.

Pathways for Multiple Pterygium Syndrome, Lethal Type

GO Terms for Multiple Pterygium Syndrome, Lethal Type

Cellular components related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.73 RYR1 CHRNG CHRND CHRNA1
2 cell junction GO:0030054 9.67 RAPSN CHRNG CHRND CHRNA1
3 synapse GO:0045202 9.62 RAPSN CHRNG CHRND CHRNA1
4 neuron projection GO:0043005 9.58 CHRNG CHRND CHRNA1
5 integral component of postsynaptic specialization membrane GO:0099060 9.26 CHRND CHRNA1
6 acetylcholine-gated channel complex GO:0005892 9.16 CHRND CHRNA1
7 neuromuscular junction GO:0031594 9.13 RAPSN CHRND CHRNA1
8 postsynaptic membrane GO:0045211 8.92 RAPSN CHRNG CHRND CHRNA1

Biological processes related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 RYR1 CHRNG CHRND CHRNA1
2 ion transmembrane transport GO:0034220 9.71 RYR1 CHRNG CHRND CHRNA1
3 regulation of membrane potential GO:0042391 9.65 CHRNG CHRND CHRNA1
4 muscle contraction GO:0006936 9.63 RYR1 CHRNG CHRND
5 chemical synaptic transmission GO:0007268 9.62 RAPSN CHRNG CHRND CHRNA1
6 cation transport GO:0006812 9.54 CHRND CHRNA1
7 excitatory postsynaptic potential GO:0060079 9.54 CHRNG CHRND CHRNA1
8 skeletal muscle contraction GO:0003009 9.52 CHRND CHRNA1
9 neuromuscular process GO:0050905 9.51 CHRND CHRNA1
10 musculoskeletal movement GO:0050881 9.43 CHRND CHRNA1
11 nervous system process GO:0050877 9.43 CHRNG CHRND CHRNA1
12 regulation of postsynaptic membrane potential GO:0060078 9.33 CHRNG CHRND CHRNA1
13 skeletal muscle tissue growth GO:0048630 8.96 CHRND CHRNA1
14 synaptic transmission, cholinergic GO:0007271 8.8 RAPSN CHRNG CHRNA1

Molecular functions related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.58 CHRNG CHRND CHRNA1
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 CHRND CHRNA1
3 neurotransmitter receptor activity GO:0030594 9.43 CHRNG CHRND CHRNA1
4 acetylcholine receptor activity GO:0015464 9.37 CHRNG CHRNA1
5 extracellular ligand-gated ion channel activity GO:0005230 9.33 CHRNG CHRND CHRNA1
6 acetylcholine binding GO:0042166 9.32 CHRND CHRNA1
7 ion channel activity GO:0005216 9.26 RYR1 CHRNG CHRND CHRNA1
8 acetylcholine-gated cation-selective channel activity GO:0022848 8.8 CHRNG CHRND CHRNA1

Sources for Multiple Pterygium Syndrome, Lethal Type

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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