FCMSU
MCID: URG005
MIFTS: 40

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 56 73 29 6 71
Faciocardiomusculoskeletal Syndrome, Uruguay Type 56 73
Fcmsu 56 73
Fcms 56 73
Syndrome, Faciocardiomusculoskeletal, Uruguay Type 39
Musculoskeletal Diseases 71

Characteristics:

OMIM:

56
Miscellaneous:
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)

Inheritance:
x-linked recessive


HPO:

31
uruguay faciocardiomusculoskeletal syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Uruguay Faciocardiomusculoskeletal Syndrome

OMIM : 56 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)

MalaCards based summary : Uruguay Faciocardiomusculoskeletal Syndrome, also known as faciocardiomusculoskeletal syndrome, uruguay type, is related to foix chavany marie syndrome and myoclonus, familial, 1, and has symptoms including joint stiffness, muscle weakness and arthralgia. An important gene associated with Uruguay Faciocardiomusculoskeletal Syndrome is FHL1 (Four And A Half LIM Domains 1). The drugs Aminocaproic acid and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are prominent supraorbital ridges and scoliosis

UniProtKB/Swiss-Prot : 73 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:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 foix chavany marie syndrome 11.6
2 myoclonus, familial, 1 11.5
3 follicular lymphoma 10.3
4 myelodysplastic syndrome 10.2
5 mantle cell lymphoma 10.2
6 lymphoma 10.2
7 restless legs syndrome 10.1
8 adenocarcinoma 10.1
9 in situ carcinoma 10.1
10 alzheimer disease 10.0
11 arteriovenous malformations of the brain 10.0
12 bladder cancer 10.0
13 colorectal cancer 10.0
14 leukemia, chronic lymphocytic 10.0
15 spondylolisthesis 10.0
16 thrombocytopenic purpura, autoimmune 10.0
17 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
18 nasopharyngeal carcinoma 10.0
19 endometrial cancer 10.0
20 aplastic anemia 10.0
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
22 korean hemorrhagic fever 10.0
23 adult t-cell leukemia 10.0
24 endometrial hyperplasia 10.0
25 hantavirus hemorrhagic fever with renal syndrome 10.0
26 arteriovenous malformation 10.0
27 male infertility 10.0
28 acute leukemia 10.0
29 squamous cell papilloma 10.0
30 centronuclear myopathy 10.0
31 thrombocytopenia 10.0
32 iron metabolism disease 10.0
33 papilloma 10.0
34 cervix carcinoma 10.0
35 glioblastoma multiforme 10.0
36 astrocytoma 10.0
37 grade iii astrocytoma 10.0
38 papillary carcinoma 10.0
39 purpura 10.0
40 myopathy 10.0
41 bronchiolo-alveolar adenocarcinoma 10.0
42 kidney disease 10.0
43 t-cell lymphoblastic leukemia/lymphoma 10.0
44 chronic kidney disease 10.0
45 appendicitis 10.0
46 myeloid leukemia 10.0
47 alopecia 10.0
48 leukemia, t-cell, chronic 10.0
49 tetraploidy 10.0

Graphical network of the top 20 diseases related to Uruguay Faciocardiomusculoskeletal Syndrome:



Diseases related to Uruguay Faciocardiomusculoskeletal Syndrome

Symptoms & Phenotypes for Uruguay Faciocardiomusculoskeletal Syndrome

Human phenotypes related to Uruguay Faciocardiomusculoskeletal Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 prominent supraorbital ridges 31 HP:0000336
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 elevated serum creatine kinase 31 HP:0003236
5 everted lower lip vermilion 31 HP:0000232
6 retrognathia 31 HP:0000278
7 low-set ears 31 HP:0000369
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:

56
Head And Neck Face:
prominent supraorbital ridges
retrognathia
coarse facies
'pugilistic facies'

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

Cardiovascular Heart:
mitral regurgitation
cardiomyopathy
ventricular hypertrophy

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

Skin Nails Hair Hair:
synophrys
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

Skeletal Spine:
scoliosis
kyphosis

Skeletal Pelvis:
congenital hip dislocation

Skeletal Limbs:
limited elbow movement

Head And Neck Eyes:
synophrys
downslanting palpebral fissures
large eyebrows

Head And Neck Head:
brachyturricephaly

Neurologic Central Nervous System:
difficulty walking
normal intelligence

Head And Neck Mouth:
everted lower lip

Laboratory Abnormalities:
elevated creatine kinase

Voice:
muffled voice

Clinical features from OMIM:

300280

UMLS symptoms related to Uruguay Faciocardiomusculoskeletal Syndrome:


joint stiffness, muscle weakness, arthralgia, myalgia, back pain, ophthalmoplegia, 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 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
2
Tranexamic Acid Approved Phase 4 1197-18-8 5526
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Chlorzoxazone Approved Phase 4 95-25-0 2733
5
tannic acid Approved Phase 4 1401-55-4
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
11
Racepinephrine Approved Phase 4 329-65-7 838
12 Psychotropic Drugs Phase 4
13 Hemostatics Phase 4
14 Antifibrinolytic Agents Phase 4
15 Coagulants Phase 4
16 Anti-Anxiety Agents Phase 4
17 Anticonvulsants Phase 4
18 Anesthetics, General Phase 4
19 Anesthetics Phase 4
20 Excitatory Amino Acid Antagonists Phase 4
21 Anesthetics, Dissociative Phase 4
22 Anesthetics, Intravenous Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 Sodium Channel Blockers Phase 4
25 Anti-Arrhythmia Agents Phase 4
26 Diuretics, Potassium Sparing Phase 4
27 Neurotransmitter Agents Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Adrenergic beta-Agonists Phase 4
30 Respiratory System Agents Phase 4
31 Vasoconstrictor Agents Phase 4
32 Adrenergic Agents Phase 4
33 Epinephryl borate Phase 4
34 Sympathomimetics Phase 4
35 Adrenergic Agonists Phase 4
36 Anti-Asthmatic Agents Phase 4
37 Bronchodilator Agents Phase 4
38 Mydriatics Phase 4
39
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
40
Salicylic acid Approved, Investigational, Vet_approved Phase 3 69-72-7 338
41
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
42
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
43
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
45
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
46
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
47 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
48
Denosumab Approved Phase 3 615258-40-7
49
Desflurane Approved Phase 3 57041-67-5 42113
50
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206

Interventional clinical trials:

(show top 50) (show all 358)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Prospective, Evaluation of the Use of a Fully Covered Metal Stent (FCMS) for the Treatment of Refractory Benign Esophageal Strictures Caused by Caustic Ingestion Completed NCT01899300 Phase 4
2 A Multi-center, Post Marketing Surveillance Study to Monitor the Safety and Performance of the Barricaid® ARD in the Treatment of Back and Radicular Pain Caused by Primary Lumbar Disc Herniation Completed NCT01534065 Phase 4
3 A Randomized Controlled Trial of Tranexamic Acid and ε-Aminocaproic Acid to Reduce Blood Loss Following Total Knee Arthroplasty Completed NCT01873768 Phase 4 Tranexamic Acid (TXA);ε-Aminocaproic Acid (EACA)
4 Placebo Controlled, Randomized,Gabapentin as Adjuvant for Postoperative Pain in Pediatric Orthopedic Surgery Completed NCT03005483 Phase 4 Gabapentin
5 Analgetic Effects of Chlorzoxazone in Total Hip and Knee Arthroplasty Completed NCT02405104 Phase 4 chlorzoxazone;Placebo
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 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Recruiting NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
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 Diathermy Compared With Sham Diathermy in Doms Management Terminated NCT02367079 Phase 4
10 Phase III Study of Human Bone Marrow-Derived Mesenchymal Stem Cells to Treat AS Unknown status NCT02809781 Phase 2, Phase 3 Etanercept
11 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
12 A Study of the Safety and Efficacy of Synvisc and Depo-Medrol in Patients With Osteoarthritis of the Hip Completed NCT00131326 Phase 3
13 A Study of the Safety and Efficacy of Synvisc in Patients With Symptomatic Shoulder Osteoarthritis Completed NCT00131300 Phase 3
14 A Multicenter, International, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Assess the Efficacy and Safety of Romosozumab Treatment in Postmenopausal Women With Osteoporosis Completed NCT01575834 Phase 3 Romosozumab;Placebo;Denosumab
15 A Multicenter, Randomized, Double-blind, Placebo-controlled, Study to Compare the Efficacy and Safety of Romosozumab With Placebo in Postmenopausal South Korean Women With Osteoporosis Completed NCT02791516 Phase 3 Romosozumab;Placebo
16 The Different Analgesic Potency of Sevoflurane and Desflurane at Equi-minimum Alveolar Concentration Completed NCT02609802 Phase 3 Sevoflurane;Desflurane
17 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Trial of the Safety of Rilonacept for the Prophylaxis of Gout Flares in Patients on Urate- Lowering Therapy Completed NCT00856206 Phase 3
18 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
19 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
20 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
21 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00829829 Phase 3 Rilonacept 80 mg;Rilonacept 160 mg
22 A Multi-Center, Randomized, Double-Blind, Active-Controlled Study of the Safety and Efficacy of Rilonacept Administered Subcutaneously for the Treatment of an Acute Gout Flare Completed NCT00855920 Phase 3 Rilonacept;Indomethacin
23 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00958438 Phase 3 Placebo;Rilonacept;Rilonacept
24 A Multicenter, International, Randomized, Double-blind, Alendronate-controlled Study to Determine the Efficacy and Safety of Romosozumab in the Treatment of Postmenopausal Women With Osteoporosis Completed NCT01631214 Phase 3 Alendronate;Placebo to Romosozumab;Placebo to Alendronate
25 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
26 The Efficacy and Safety of Curcuma Domestica Extracts and Ibuprofen for Therapy of Patients With Knee Osteoarthritis, the Randomized Double-blinded Controlled Trial, Multicenter Study Completed NCT00792818 Phase 3 Curcuma domestica extracts;Ibuprofen
27 The Effects of Knee Malalignment and Quadriceps Strengthening on the Adduction Moment in Individuals With Medial Knee Osteoarthritis Completed NCT00414557 Phase 2, Phase 3
28 A Pragmatic, Randomised Controlled Trial of Physiotherapy and Corticosteroid Injections in Lateral Epicondylalgia Completed NCT00110318 Phase 3
29 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
30 A Multicenter, Randomized, Double-Blind, Study Comparing the Efficacy and Safety of Continuing Versus Withdrawing Adalimumab Therapy in Maintaining Remission in Subjects With Non-Radiographic Axial Spondyloarthritis Completed NCT01808118 Phase 3
31 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
32 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
33 Intravenous Tranexamic Acid to Reduce Blood Loss in Reverse Total Shoulder Arthroplasty Completed NCT02043132 Phase 2, Phase 3 Tranexamic Acid;Placebo
34 Efficacy of Lidocaine Patch in Acute Musculoskeletal Pain in the Emergency Department: A Prospective Randomized Controlled Study Recruiting NCT03571737 Phase 3 Ibuprofen;Lidocaine Patch 4%
35 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 Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
36 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 Recruiting NCT03309501 Phase 3 Tong-Luo-Qu-Tong Plaster;Qi-Zheng-Xiao-Tong Plaster
37 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
38 A Prospective, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of a Single Injection of Rexlemestrocel-L Alone or Combined With Hyaluronic Acid (HA) in Subjects With Chronic Low Back Pain Active, not recruiting NCT02412735 Phase 3 rexlemestrocel-L;rexlemestrocel-L + HA;Placebo
39 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
40 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
41 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
42 A Phase 3, Multicenter, Randomized, Long Term Study Of The Safety Of The Subcutaneous Administration Of Tanezumab In Patients With Osteoarthritis Of The Knee Terminated NCT01127893 Phase 3
43 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
44 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
45 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
46 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
47 Effect of Transcranial Magnetic Stimulation in the Cortical, Subcortical Neuromodulation and in Pain Threshold of Chronic Myofascial Pain Patients Unknown status NCT01964729 Phase 2
48 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
49 A Randomized, Double-blind, Placebo-controlled, Multi-dose Phase 2 Study to Evaluate the Efficacy, Safety and Tolerability of Romosozumab in the Treatment of Japanese Women With Postmenopausal Osteoporosis Completed NCT01992159 Phase 2 Romosozumab;Placebo
50 A Phase 2a, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Comparing the Safety and Efficacy of ABT-981 to Placebo in Subjects With Erosive Hand Osteoarthritis Completed NCT02384538 Phase 2

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:

40
Bone, Bone Marrow, Testes, Liver, Breast, Cortex, Spinal Cord

Publications for Uruguay Faciocardiomusculoskeletal Syndrome

Articles related to Uruguay Faciocardiomusculoskeletal Syndrome:

(show top 50) (show all 201)
# Title Authors PMID Year
1
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. 56 6
26933038 2016
2
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder. 6 56
11102932 2000
3
Timed environmental exposure indicates sample stability for reliable noninvasive measurement of fecal cortisol metabolite concentrations in sheep. 61
32272317 2020
4
Swarm intelligence based clustering technique for automated lesion detection and diagnosis of psoriasis. 61
32413831 2020
5
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
6
Non - invasive modelling methodology for the diagnosis of coronary artery disease using fuzzy cognitive maps. 61
32432903 2020
7
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
8
Non-target and suspected-target screening for potentially hazardous chemicals in food contact materials: investigation of paper straws. 61
32031499 2020
9
Negative chronotropic and inotropic effects of lubiprostone on iPS cell-derived cardiomyocytes via activation of CFTR. 61
32306956 2020
10
Molecular modelling methods in food safety: Bisphenols as case study. 61
31931072 2020
11
Information Granulation-Based Fuzzy Clustering of Time Series. 61
32112690 2020
12
Leveraging complementary computational models for prioritizing chemicals of developmental and reproductive toxicity concern: an example of food contact materials. 61
31897520 2020
13
Fuzzy cognitive maps (FCMs) for the analysis of team communication. 61
31733418 2020
14
Marine accident learning with fuzzy cognitive maps (MALFCMs). 61
32551243 2020
15
Participatory modelling for poverty alleviation using fuzzy cognitive maps and OWA learning aggregation. 61
32511275 2020
16
A Combined method to model policy interventions for local communities based on people knowledge. 61
32420045 2020
17
Evaluating poverty alleviation strategies in a developing country. 61
31929549 2020
18
Non-invasive Assessment of Fecal Stress Biomarkers in Hunting Dogs During Exercise and at Rest. 61
32373631 2020
19
Recent advances and challenges on applications of nanotechnology in food packaging. A literature review. 61
31520669 2019
20
Technical issues stemming from endoscopic-ultrasound-guided gallbladder drainage: A single center experience. 61
31854311 2019
21
The role of the European Food Safety Authority (EFSA) in a better European regulation of food contact materials - some proposals. 61
31479392 2019
22
Cognitive modelling of Chinese herbal medicine's effect on breast cancer. 61
31656593 2019
23
Long-term wear effects on nanosilver release from commercially available food contact materials. 61
31437088 2019
24
Measuring Faecal Glucocorticoid Metabolites to Assess Adrenocortical Activity in Reindeer. 61
31752137 2019
25
From individual Fuzzy Cognitive Maps to Agent Based Models: Modeling multi-factorial and multi-stakeholder decision-making for water scarcity. 61
31494410 2019
26
Dietary Habits Related to Food Packaging and Population Exposure to PFASs. 61
31596611 2019
27
Food choice motivations: Profiling low-carbohydrate, high-fat dieters. 61
31229572 2019
28
Easy and Inexpensive Method for Multiclass Analysis of 41 Food Contact Related Contaminants in Fatty Food by Liquid Chromatography-Tandem Mass Spectrometry. 61
31487165 2019
29
Quasi Single Point Calibration Method for High-Speed Measurements of Resistive Sensors. 61
31575037 2019
30
Mutagenicity assessment of food contact material migrates with the Ames MPF assay. 61
31287381 2019
31
Toxicity of food contact paper evaluated by combined biological and chemical methods. 61
30951805 2019
32
Selective Targeting of Myoblast Fusogenic Signaling and Differentiation-Arrest Antagonizes Rhabdomyosarcoma Cells. 61
31331911 2019
33
Foix-Chavany-Marie Syndrome due to Unilateral Anterior Opercular Damage with Contralateral Infarction of Corona Radiata. 61
31824287 2019
34
A sparse and decomposed particle swarm optimization for inferring gene regulatory networks based on fuzzy cognitive maps. 61
31617458 2019
35
The Learning of Fuzzy Cognitive Maps With Noisy Data: A Rapid and Robust Learning Method With Maximum Entropy. 61
31443065 2019
36
Building a Collaborative Model of Sacroiliac Joint Dysfunction and Pelvic Girdle Pain to Understand the Diverse Perspectives of Experts. 61
31169360 2019
37
Determination of volatile non intentionally added substances coming from a starch-based biopolymer intended for food contact by different gas chromatography-mass spectrometry approaches. 61
30975529 2019
38
Short-term cognitive networks, flexible reasoning and nonsynaptic learning. 61
30974303 2019
39
Development of a collaborative model of low back pain: report from the 2017 NASS consensus meeting. 61
30508588 2019
40
Effect of Ground Transportation on Adrenocortical Activity in Prepuberal Female Mice from Five Different Genetic Backgrounds. 61
31096568 2019
41
Advantages of comprehensive two-dimensional gas chromatography for comprehensive analysis of potential migrants from food contact materials. 61
30832909 2019
42
Optimization of the post-acquisition data processing for the non-targeted screening of trace leachable residues from reusable plastic bottles by high performance liquid chromatography coupled to hybrid quadrupole time of flight mass spectrometry. 61
30368300 2019
43
Foix-Chavany-Marie Syndrome Induced by a Unilateral Brain Abscess. 61
30210128 2019
44
Efficacy of triamcinolone-soaked polyglycolic acid sheet plus fully covered metal stent for preventing stricture formation after large esophageal endoscopic submucosal dissection. 61
30561608 2019
45
Non-invasive measurement of glucocorticoids: Advances and problems. 61
30468744 2019
46
Foix-Chavany-Marie syndrome secondary to bilateral traumatic operculum injury. 61
30328523 2018
47
Prediction of DNA-binding residues in local segments of protein sequences with Fuzzy Cognitive Maps. 61
30602422 2018
48
Suitability of the Ames test to characterise genotoxicity of food contact material migrates. 61
30257137 2018
49
Effects of consumer use practices on nanosilver release from commercially available food contact materials. 61
30352016 2018
50
Simultaneous analysis and exposure assessment of migrated bisphenol analogues, phenol, and p-tert-butylphenol from food contact materials. 61
30335585 2018

Variations for Uruguay Faciocardiomusculoskeletal Syndrome

ClinVar genetic disease variations for Uruguay Faciocardiomusculoskeletal Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FHL1 NM_001159699.2(FHL1):c.550-2A>GSNV Pathogenic 445279 rs1556639352 X:135290612-135290612 X:136208453-136208453
2 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)SNV Likely pathogenic 689729 X:135290067-135290067 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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