Uruguay Faciocardiomusculoskeletal Syndrome (FCMSU)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Uruguay Faciocardiomusculoskeletal Syndrome

MalaCards integrated aliases for Uruguay Faciocardiomusculoskeletal Syndrome:

Name: Uruguay Faciocardiomusculoskeletal Syndrome 57 12 72 29 6 70
Fcmsu 57 12 72
Faciocardiomusculoskeletal Syndrome, Uruguay Type 57 72
Fcms 57 72
Syndrome, Faciocardiomusculoskeletal, Uruguay Type 39
Musculoskeletal Diseases 70



57 (Updated 20-May-2021)
onset in early childhood
female mutation carriers may have subtle manifestations
death in middle age due to cardiomyopathy may occur
one family from uruguay has been reported (last curated october 2017)

x-linked recessive


uruguay faciocardiomusculoskeletal syndrome:
Inheritance x-linked recessive inheritance


Summaries for Uruguay Faciocardiomusculoskeletal Syndrome

OMIM® : 57 Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016). (300280) (Updated 20-May-2021)

MalaCards based summary : Uruguay Faciocardiomusculoskeletal Syndrome, also known as fcmsu, is related to foix chavany marie syndrome, and has symptoms including muscle weakness, joint stiffness and back pain. An important gene associated with Uruguay Faciocardiomusculoskeletal Syndrome is FHL1 (Four And A Half LIM Domains 1). The drugs Rocuronium and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has material basis in hemizygous mutation in FHL1 on chromosome Xq26.3.

UniProtKB/Swiss-Prot : 72 Uruguay faciocardiomusculoskeletal syndrome: An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis.

Related Diseases for Uruguay Faciocardiomusculoskeletal Syndrome

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

# Related Disease Score Top Affiliating Genes
1 foix chavany marie syndrome 11.3

Symptoms & Phenotypes for Uruguay Faciocardiomusculoskeletal Syndrome

Human phenotypes related to Uruguay Faciocardiomusculoskeletal Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 prominent supraorbital ridges 31 HP:0000336
4 everted lower lip vermilion 31 HP:0000232
5 retrognathia 31 HP:0000278
6 low-set ears 31 HP:0000369
7 elevated serum creatine kinase 31 HP:0003236
8 congenital hip dislocation 31 HP:0001374
9 mitral regurgitation 31 HP:0001653
10 downslanted palpebral fissures 31 HP:0000494
11 limited elbow movement 31 HP:0002996
12 abnormality of the voice 31 HP:0001608
13 hallux valgus 31 HP:0001822
14 synophrys 31 HP:0000664
15 wide nose 31 HP:0000445
16 brachyturricephaly 31 HP:0000244
17 broad nail 31 HP:0001821
18 cardiomyopathy 31 HP:0001638
19 broad palm 31 HP:0001169
20 posteriorly rotated ears 31 HP:0000358
21 prominent nose 31 HP:0000448
22 difficulty walking 31 HP:0002355
23 camptodactyly of toe 31 HP:0001836
24 joint contracture of the hand 31 HP:0009473
25 marked muscular hypertrophy 31 HP:0009042
26 ventricular hypertrophy 31 HP:0001714
27 progressive pes cavus 31 HP:0008075
28 pugilistic facies 31 HP:0000339
29 dislocation of toes 31 HP:0008141

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Cardiovascular Heart:
mitral regurgitation
ventricular hypertrophy

Skeletal Feet:
hallux valgus
progressive pes cavus
dislocation of toes
wide feet

Skin Nails Hair Hair:
large eyebrows

Head And Neck Nose:
prominent nose
broad nose

Muscle Soft Tissue:
marked muscular hypertrophy

Skeletal Hands:
broad hands
camptodactyly (2nd-5th)

Skin Nails Hair Nails:
broad fingernails

Head And Neck Face:
prominent supraorbital ridges
coarse facies
'pugilistic facies'

Skeletal Pelvis:
congenital hip dislocation

Skeletal Limbs:
limited elbow movement

Head And Neck Eyes:
downslanting palpebral fissures
large eyebrows

Head And Neck Head:

Neurologic Central Nervous System:
difficulty walking
normal intelligence

Head And Neck Mouth:
everted lower lip

Laboratory Abnormalities:
elevated creatine kinase

muffled voice

Clinical features from OMIM®:

300280 (Updated 20-May-2021)

UMLS symptoms related to Uruguay Faciocardiomusculoskeletal Syndrome:

muscle weakness; joint stiffness; back pain; ophthalmoplegia; arthralgia; myalgia; bone pain; torticollis; hemiplegia; neck pain; jaw pain; low back pain; flank pain; muscle cramp; metatarsalgia; spasm; spasmodic torticollis; pathological conditions, signs and symptoms; stiffness of joint, not elsewhere classified in icd10cm; other musculoskeletal symptoms referable to limbs; lassitude; spasm oropharyngeal; back discomfort; lumbo-sacral pain; sacroiliac pain; osteoneuralgia; pain neck/shoulder; muscle tenderness; ischial neuralgia; acute back pain

Drugs & Therapeutics for Uruguay Faciocardiomusculoskeletal Syndrome

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

(show top 50) (show all 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Racepinephrine Approved Phase 4 329-65-7 838
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
Iron Approved Phase 4 7439-89-6 23925 29936
10 Neuromuscular Nondepolarizing Agents Phase 4
11 Neuromuscular Blocking Agents Phase 4
12 Anesthetics, Dissociative Phase 4
13 Anesthetics, General Phase 4
14 Hypnotics and Sedatives Phase 4
15 Anesthetics, Intravenous Phase 4
16 Respiratory System Agents Phase 4
17 Sodium Channel Blockers Phase 4
18 Adrenergic alpha-Agonists Phase 4
19 Anti-Arrhythmia Agents Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Adrenergic beta-Agonists Phase 4
22 Epinephryl borate Phase 4
23 Adrenergic Agonists Phase 4
24 Diuretics, Potassium Sparing Phase 4
25 Vasoconstrictor Agents Phase 4
26 Adrenergic Agents Phase 4
27 Mydriatics Phase 4
28 Neurotransmitter Agents Phase 4
29 Sympathomimetics Phase 4
30 Bronchodilator Agents Phase 4
31 Analgesics Phase 4
32 Psychotropic Drugs Phase 4
33 Analgesics, Opioid Phase 4
34 Excitatory Amino Acid Antagonists Phase 4
35 Anti-Anxiety Agents Phase 4
36 Anticonvulsants Phase 4
37 calcium channel blockers Phase 4
Ibuprofen Approved Phase 3 15687-27-1 3672
Salicylic acid Approved, Investigational, Vet_approved Phase 3 69-72-7 338
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
Ferric maltol Approved Phase 3 33725-54-1
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
Desflurane Approved Phase 3 57041-67-5 42113
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0

Interventional clinical trials:

(show top 50) (show all 335)
# Name Status NCT ID Phase Drugs
1 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Unknown status NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
2 Pilot Open Label Study to Evaluate Intravenous Ferric Carboxymaltose (Ferinject ®) in Patients With CKD (Pre-dialysis) With Anemia Treated With Epo and Oral Iron in Buenos Aires, Argentina Completed NCT02232906 Phase 4 intravenous ferric carboxymaltose
3 Placebo Controlled, Randomized,Gabapentin as Adjuvant for Postoperative Pain in Pediatric Orthopedic Surgery Completed NCT03005483 Phase 4 Gabapentin
4 Changes in Myocardial Iron Content Following Administration of Intravenous Iron (Myocardial-IRON) Completed NCT03398681 Phase 4 Ferric carboymaltose;Placebo (Normal saline)
5 A Randomised, Double-Blind Placebo Controlled Trial Comparing the Effect of Intravenous Ferric Carboxymaltose on Hospitalisations and Mortality in Iron Deficient Patients Admitted for Acute Heart Failure (Affirm-AHF) Completed NCT02937454 Phase 4 ferric carboxymaltose
6 Double-blind Trial of Intraoperative Ketamine Versus Saline in Depressed Patients Undergoing Anesthesia for Non-cardiac Surgery Recruiting NCT03861988 Phase 4 Ketamine;Normal saline (placebo)
7 A Prospective Clinical Trial Comparing General Anesthesia With Interscalene Nerve Block vs. Deep Sedation Via TIVA-P With Interscalene Nerve Block in Outpatient Shoulder Arthroscopies Enrolling by invitation NCT04793022 Phase 4 TIVA with Propofol;Inhaled Anesthesia
8 A Prospective Randomized Comparison of the Effects of Lidocaine and Levobupivacaine on Block Dynamics After a Subparaneural Popliteal Sciatic Nerve Block Not yet recruiting NCT04397484 Phase 4 0.5% Levobupivacaine;2% Xylocaine with adrenaline 1:200,000
9 Pregabalin vs. Gabapentin on Reducing Opioid Usage in Orthopedic Trauma Patients Not yet recruiting NCT04705480 Phase 4 Pregabalin 50mg;Gabapentin 300mg;Neither Pregabalin nor Gabapentin
10 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Multiple Myeloma & Iron Restricted Erythropoiesis Receiving Chemotherapy Terminated NCT01100879 Phase 4 Ferric carboxymaltose
11 Diathermy Compared With Sham Diathermy in Doms Management Terminated NCT02367079 Phase 4
12 Efficacy of Lidocaine Patch in Acute Musculoskeletal Pain in the Emergency Department: A Prospective Randomized Controlled Study Unknown status NCT03571737 Phase 3 Ibuprofen;Lidocaine Patch 4%
13 The Efficacy of Occlusal Stabilization Appliance Associated to Counseling in the Management of Myofascial Pain Chronic and in the Improvement of the Quality of Life of Patients With Temporomandibular Disorders Unknown status NCT01544439 Phase 3
14 Phase III Study of Human Bone Marrow-Derived Mesenchymal Stem Cells to Treat AS Unknown status NCT02809781 Phase 2, Phase 3 Etanercept
15 Study on Efficacy, Safety and Economy of Tong-Luo-Qu-Tong Plaster Treatment for Knee Osteoarthritis: Study Protocol for a Randomised, Double-blind, Parallel Positive Control, Multi-center Clinical Trial Unknown status NCT03309501 Phase 3 Tong-Luo-Qu-Tong Plaster;Qi-Zheng-Xiao-Tong Plaster
16 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Lymphoid Malignancies & Functional Iron Deficiency Receiving Chemotherapy Completed NCT01101399 Phase 3 Ferric carboxymaltose
17 Comparison of Safety & Efficacy of a Unique Intravenous Iron (VIT45) Preparation vs Oral Iron in the Treatment of Anemia in Non-Dialysis Dependent Chronic Kidney Disease Completed NCT00317239 Phase 3 Ferrous Sulfate tablets;Ferric Carboxymaltose (FCM)
18 A Multi-Center, Randomized, Controlled Study to Investigate the Safety and Tolerability of a Single Dose of Intravenous Ferric Carboxymaltose (FCM) vs. Standard Medical Care in Treating Iron Deficiency Anemia in Subjects Who Are Not Dialysis Dependent Completed NCT00704353 Phase 3 Ferric Carboxymaltose;Standard Medical Care (SMC)
19 A Multi-center, Randomized, Controlled Study to Investigate the Safety and Tolerability of Intravenous Ferric Carboxymaltose (FCM) vs. Standard Medical Care in Treating Iron Deficiency Anemia Completed NCT00703937 Phase 3 Ferric Carboxymaltose (FCM);Standard Medical Care (SMC) for the treatment of IDA
20 A Multi-Center, Randomized, Controlled Study to Investigate the Safety and Tolerability of Intravenous Ferric Carboxymaltose (FCM) vs. Iron Dextran in Treating Iron Deficiency Anemia Completed NCT00704028 Phase 3 Ferric Carboxymaltose;Iron Dextran
21 A Multi-center, Randomized Controlled Study to Investigate the Safety and Tolerability of IV Ferric Carboxymaltose (FCM) vs Standard of Care in Treating Iron Deficiency Anemia in Heavy Uterine Bleeding and Post Partum Patients Completed NCT00548860 Phase 3 Ferric Carboxymaltose;Standard Medical Care (SMC)
22 A Multi-center, Randomized Controlled Study to Investigate the Safety and Tolerability of IV Ferric Carboxymaltose (FCM) vs Standard Medical Care in Treating Iron Deficiency Anemia in Chronic Kidney Disease Patients Completed NCT00548691 Phase 3 Ferric Carboxymaltose;Standard Medical Care (SMC)
23 A Phase 3b, Randomized, Controlled, Multicentre Study With Oral Ferric Maltol (Feraccru) or Intravenous Iron (Ferric Carboxy Maltose; FCM), for the Treatment of Iron Deficiency Anaemia in Subjects With Inflammatory Bowel Disease Completed NCT02680756 Phase 3 Ferric Maltol;Ferric Carboxy Maltose
24 A Multi-center, Randomized, Active Controlled Study to Investigate the Efficacy and Safety of Intravenous Ferric Carboxymaltose (FCM) in Patients With Iron Deficiency Anemia (IDA) Completed NCT00982007 Phase 3 Ferric Carboxymaltose (FCM);Ferrous Sulfate Tablets;IV Iron (standard of care);Ferric Carboxymaltose (FCM)
25 The Different Analgesic Potency of Sevoflurane and Desflurane at Equi-minimum Alveolar Concentration Completed NCT02609802 Phase 3 Sevoflurane;Desflurane
26 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
27 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
28 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
29 A Multi-Centre, Parallel, Double-Blind, Blinded Evaluator, Randomised, Placebo-Controlled Evaluation of the Efficacy and Safety of a Single Dose of 6 mL of Synvisc in Patients With Symptomatic Osteoarthritis of the Knee Completed NCT00131352 Phase 3
30 A Study of the Safety and Efficacy of Synvisc and Depo-Medrol in Patients With Osteoarthritis of the Hip Completed NCT00131326 Phase 3
31 A Study of the Safety and Efficacy of Synvisc in Patients With Symptomatic Shoulder Osteoarthritis Completed NCT00131300 Phase 3
32 A Pragmatic, Randomised Controlled Trial of Physiotherapy and Corticosteroid Injections in Lateral Epicondylalgia Completed NCT00110318 Phase 3
33 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
34 An Open-label, Randomised Controlled Multi-centre Study to Assess the Impact of Ferric Carboxymaltose in Correcting Iron Deficiency Anaemia Compared With Venofer® (Iron Sucrose) in Chinese Subjects Completed NCT03591406 Phase 3 Ferric carboxymaltose;Iron sucrose
35 An Open-label, Multicentre, Randomised, 2-arm Study to Investigate the Comparative Efficacy and Safety of Intravenous Ferric Carboxymaltose Versus Oral Iron for the Treatment of Iron Deficiency Anaemia in Pregnant Women Completed NCT01131624 Phase 3 ferrous sulphate;Ferinject
36 Comparison of the Safety and Efficacy of Intravenous Iron vs Oral Iron in the Treatment of Anemia Secondary to Heavy Uterine Bleeding Completed NCT00395993 Phase 3 Ferric Carboxymaltose (FCM);Ferrous Sulfate tablets
37 Treatment of Relapsed CBCC, CC and LPIC Lymphoma With FCM Chemotherapy Alone or in Combination With the Monoclonal Anti CD 20 Antibody Rituximab Followed by Anti-CD 20 Maintenance or Observation Only Active, not recruiting NCT00317096 Phase 3 rituximab maintenance
38 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
39 Comparative Evaluation of Lumbar Plexus and Suprainguinal Fascia Iliaca Compartment Blocks for Pain Management After Orthopedic Surgical Procedures Involving Hip and Femur in Pediatrics. Enrolling by invitation NCT03746951 Phase 2, Phase 3 Ropivacaine Hcl 0.5% Inj Vil 20Ml
40 Single-Shot Versus Continuous Regional Anesthesia for Treating Acute Postoperative Pain in Pediatric Orthopaedic Surgery: A Prospective Randomized Trial Not yet recruiting NCT04669145 Phase 2, Phase 3 Ropivacaine
41 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
42 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
43 Placebo-controlled Trial With Vitamin D to Prevent Worsening/Relieve Aromatase Inhibitor-induced Musculoskeletal Symptoms in Breast Cancer Patients Terminated NCT01809171 Phase 2, Phase 3 Vitamin D3;Placebo
44 Study Phase III to Evaluate the Noninferiority of Heavy Levobupivacaine 50% Enantiomeric Excess (Levobupivacaine S75:R25) Compared to Racemic Heavy Bupivacaine (Bupivacaine S50:R50) in Spinal Anesthesia for Lower Limb Orthopedic Procedures Withdrawn NCT01994967 Phase 3 Levobupivacaine;Bupivacaine
45 Influence of Manual Therapy in Temporomandibular Joint on the Mandibular Movement: Clinical Trial, Randomised, Placebo-controlled and Blind Unknown status NCT02880774 Phase 1, Phase 2
46 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
47 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
48 A Randomized, Controlled Study to Investigate the Safety and Oxidative Stress Potential of Intravenous Ferric Carboxymaltose (FCM) vs. IV Iron Sucrose or IV Iron Dextran in Treating Iron Deficiency Anemia in Women Completed NCT01290315 Phase 2 Ferric Carboxymaltose (FCM);Iron Sucrose / Iron Dextran
49 A Randomized, Controlled Study to Investigate the Safety and Explore the Mechanism of Hypophosphatemia With Intravenous Ferric Carboxymaltose (FCM) Versus Iron Dextran in Women With Iron Deficiency Secondary to Heavy Uterine Bleeding Completed NCT01307007 Phase 2 Ferric Carboxymaltose (FCM);Iron Dextran Injection
50 A Randomized Phase II Trial of Fludarabine, Cyclophosphamide and Mitoxantrone (FCM) With or Without Rituximab in Previously Treated Chronic Lymphocytic Leukemia Completed NCT00337246 Phase 2 cyclophosphamide;fludarabine phosphate;mitoxantrone hydrochloride

Search NIH Clinical Center for Uruguay Faciocardiomusculoskeletal Syndrome

Genetic Tests for Uruguay Faciocardiomusculoskeletal Syndrome

Genetic tests related to Uruguay Faciocardiomusculoskeletal Syndrome:

# Genetic test Affiliating Genes
1 Uruguay Faciocardiomusculoskeletal Syndrome 29 FHL1

Anatomical Context for Uruguay Faciocardiomusculoskeletal Syndrome

MalaCards organs/tissues related to Uruguay Faciocardiomusculoskeletal Syndrome:

Bone, Bone Marrow, Liver, T Cells, Spinal Cord, Brain, Cortex

Publications for Uruguay Faciocardiomusculoskeletal Syndrome

Articles related to Uruguay Faciocardiomusculoskeletal Syndrome:

(show top 50) (show all 228)
# Title Authors PMID Year
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. 57 6
26933038 2016
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder. 57 6
11102932 2000
Overview of intentionally used food contact chemicals and their hazards. 61
33272655 2021
The Learning of Fuzzy Cognitive Maps With Noisy Data: A Rapid and Robust Learning Method With Maximum Entropy. 61
31443065 2021
Additional Assessment of Fecal Corticosterone Metabolites Improves Visual Rating in the Evaluation of Stress Responses of Laboratory Rats. 61
33807941 2021
Regular touchscreen training affects faecal corticosterone metabolites and anxiety-like behaviour in mice. 61
33358914 2021
Phthalates leaching from plastic food and pharmaceutical contact materials by FTIR and GC-MS. 61
33604835 2021
Barriers to implementation of STRIDE, a national study to prevent fall-related injuries. 61
33580718 2021
A recycler's perspective on the implications of REACH and food contact material (FCM) regulations for the mechanical recycling of FCM plastics. 61
33125940 2021
Characterisation of Elastomers as Food Contact Materials-Part 1: Quantification of Extractable Compounds, Swelling of Elastomers in Food Simulants and Release of Elements. 61
33478042 2021
Importance of self-connections for brain connectivity and spectral connectomics. 61
33242165 2020
Predicting Partition Coefficients of Short-Chain Chlorinated Paraffin Congeners by COSMO-RS-Trained Fragment Contribution Models. 61
33207873 2020
Detection of low levels of genotoxic compounds in food contact materials using an alternative HPTLC-SOS-Umu-C assay. 61
33367936 2020
An aptamer-based magnetic flow cytometer using matched filtering. 61
32911314 2020
A Salting-out Liquid-Liquid extraction (SALLE) for the analysis of caprolactam and 2,4-di-tert butyl phenol in water and food simulants. Study of the salinity effect to specific migration from food contact materials. 61
32829133 2020
Cats at the Vet: The Effect of Alpha-s1 Casozepin. 61
33167443 2020
An overview of chemical contaminants and other undesirable chemicals in alcoholic beverages and strategies for analysis. 61
33337040 2020
Communication Limitations in Patients With Progressive Apraxia of Speech and Aphasia. 61
32755493 2020
Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. 61
33208499 2020
Fecal Cortisol Metabolites in Dairy Cows: A Cross-Sectional Exploration of Associations with Animal, Stockperson, and Farm Characteristics. 61
33019694 2020
Development and validation of a multi-analyte GC-MS method for the determination of 84 substances from plastic food contact materials. 61
32583214 2020
Non - invasive modelling methodology for the diagnosis of coronary artery disease using fuzzy cognitive maps. 61
32432903 2020
Optimization of biliary drainage in inoperable distal malignant strictures. 61
32994859 2020
Glucocorticoids and activity in free-living arctic ground squirrels: Interrelationships between weather, body condition, and reproduction. 61
32698015 2020
The Association of Demographic Characteristics and Food Choice Motives with the Consumption of Functional Foods in Emerging Adults. 61
32854396 2020
Prediction of DNA-Binding Residues in Local Segments of Protein Sequences with Fuzzy Cognitive Maps. 61
30602422 2020
Timed environmental exposure indicates sample stability for reliable noninvasive measurement of fecal cortisol metabolite concentrations in sheep. 61
32272317 2020
Swarm intelligence based clustering technique for automated lesion detection and diagnosis of psoriasis. 61
32413831 2020
Assessment of the Stress Response in North American Deermice: Laboratory and Field Validation of Two Enzyme Immunoassays for Fecal Corticosterone Metabolites. 61
32630075 2020
The stress of being alone: Removal from the colony, but not social subordination, increases fecal cortisol metabolite levels in eusocial naked mole-rats. 61
32081743 2020
Direct analysis in real time coupled with quadrupole-Orbitrap high-resolution mass spectrometry for rapid analysis of pyrethroid preservatives in wooden food contact materials. 61
32124870 2020
Non-target and suspected-target screening for potentially hazardous chemicals in food contact materials: investigation of paper straws. 61
32031499 2020
Negative chronotropic and inotropic effects of lubiprostone on iPS cell-derived cardiomyocytes via activation of CFTR. 61
32306956 2020
Molecular modelling methods in food safety: Bisphenols as case study. 61
31931072 2020
Information Granulation-Based Fuzzy Clustering of Time Series. 61
32112690 2020
Leveraging complementary computational models for prioritizing chemicals of developmental and reproductive toxicity concern: an example of food contact materials. 61
31897520 2020
Fuzzy cognitive maps (FCMs) for the analysis of team communication. 61
31733418 2020
A Medical Decision Support System to Assess Risk Factors for Gastric Cancer Based on Fuzzy Cognitive Map. 61
33082836 2020
Non-invasive Assessment of Fecal Stress Biomarkers in Hunting Dogs During Exercise and at Rest. 61
32373631 2020
A Combined method to model policy interventions for local communities based on people knowledge. 61
32420045 2020
Participatory modelling for poverty alleviation using fuzzy cognitive maps and OWA learning aggregation. 61
32511275 2020
Evaluating poverty alleviation strategies in a developing country. 61
31929549 2020
Marine accident learning with fuzzy cognitive maps (MALFCMs). 61
32551243 2020
Under cover of the night: context-dependency of anthropogenic disturbance on stress levels of wild roe deer Capreolus capreolus. 61
32995004 2020
Cognitive modelling of Chinese herbal medicine's effect on breast cancer. 61
31656593 2019
Technical issues stemming from endoscopic-ultrasound-guided gallbladder drainage: A single center experience. 61
31854311 2019
The role of the European Food Safety Authority (EFSA) in a better European regulation of food contact materials - some proposals. 61
31479392 2019
Recent advances and challenges on applications of nanotechnology in food packaging. A literature review. 61
31520669 2019
Measuring Faecal Glucocorticoid Metabolites to Assess Adrenocortical Activity in Reindeer. 61
31752137 2019
From individual Fuzzy Cognitive Maps to Agent Based Models: Modeling multi-factorial and multi-stakeholder decision-making for water scarcity. 61
31494410 2019

Variations for Uruguay Faciocardiomusculoskeletal Syndrome

ClinVar genetic disease variations for Uruguay Faciocardiomusculoskeletal Syndrome:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FHL1 NM_001159699.2(FHL1):c.550-2A>G SNV Pathogenic 445279 rs1556639352 GRCh37: X:135290612-135290612
GRCh38: X:136208453-136208453
2 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 GRCh37: X:135290067-135290067
GRCh38: X:136207908-136207908

Expression for Uruguay Faciocardiomusculoskeletal Syndrome

Search GEO for disease gene expression data for Uruguay Faciocardiomusculoskeletal Syndrome.

Pathways for Uruguay Faciocardiomusculoskeletal Syndrome

GO Terms for Uruguay Faciocardiomusculoskeletal Syndrome

Sources for Uruguay Faciocardiomusculoskeletal Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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