FCMSU
MCID: URG005
MIFTS: 39

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 75 6 73
Faciocardiomusculoskeletal Syndrome, Uruguay Type 57 75
Fcmsu 57 75
Fcms 57 75
Syndrome, Faciocardiomusculoskeletal, Uruguay Type 40
Musculoskeletal Diseases 73

Characteristics:

OMIM:

57
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:

32
uruguay faciocardiomusculoskeletal syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Uruguay Faciocardiomusculoskeletal Syndrome

UniProtKB/Swiss-Prot : 75 Uruguay faciocardiomusculoskeletal syndrome: A 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.

MalaCards based summary : Uruguay Faciocardiomusculoskeletal Syndrome, also known as faciocardiomusculoskeletal syndrome, uruguay type, is related to myoclonus, familial cortical and alzheimer disease, and has symptoms including muscle weakness, joint stiffness and arthralgia. An important gene associated with Uruguay Faciocardiomusculoskeletal Syndrome is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include bone, bone marrow and liver, and related phenotypes are low-set ears and scoliosis

Description from OMIM: 300280

Related Diseases for Uruguay Faciocardiomusculoskeletal Syndrome

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 myoclonus, familial cortical 11.7
2 alzheimer disease 9.9
3 arteriovenous malformations of the brain 9.9
4 leukemia, chronic lymphocytic 2 9.9
5 hepatocellular carcinoma 9.9
6 leukemia, chronic lymphocytic 9.9
7 basal cell carcinoma 1 9.9
8 myelodysplastic syndrome 9.9
9 chronic kidney failure 9.9
10 follicular lymphoma 9.9
11 leukemia 9.9
12 restless legs syndrome 9.9
13 lymphocytic leukemia 9.9
14 hemorrhagic fever with renal syndrome 9.9
15 arteriovenous malformation 9.9
16 iron metabolism disease 9.9
17 basal cell carcinoma 9.9
18 kidney disease 9.9
19 in situ carcinoma 9.9
20 hemorrhagic fever 9.9
21 leukemia, b-cell, chronic 9.9

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



Diseases related to Uruguay Faciocardiomusculoskeletal Syndrome

Symptoms & Phenotypes for Uruguay Faciocardiomusculoskeletal Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

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

Skeletal Pelvis:
congenital hip dislocation

Neurologic Central Nervous System:
difficulty walking
normal intelligence

Head And Neck Eyes:
synophrys
downslanting palpebral fissures
large eyebrows

Head And Neck Head:
brachyturricephaly

Muscle Soft Tissue:
marked muscular hypertrophy

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

Skin Nails Hair Nails:
broad fingernails

Skeletal Spine:
scoliosis
kyphosis

Cardiovascular Heart:
cardiomyopathy
mitral regurgitation
ventricular hypertrophy

Skeletal Limbs:
limited elbow movement

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

Skin Nails Hair Hair:
synophrys
large eyebrows

Head And Neck Nose:
prominent nose
broad nose

Head And Neck Mouth:
everted lower lip

Laboratory Abnormalities:
elevated creatine kinase

Voice:
muffled voice


Clinical features from OMIM:

300280

Human phenotypes related to Uruguay Faciocardiomusculoskeletal Syndrome:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 prominent supraorbital ridges 32 HP:0000336
5 elevated serum creatine phosphokinase 32 HP:0003236
6 retrognathia 32 HP:0000278
7 everted lower lip vermilion 32 HP:0000232
8 cardiomyopathy 32 HP:0001638
9 congenital hip dislocation 32 HP:0001374
10 mitral regurgitation 32 HP:0001653
11 downslanted palpebral fissures 32 HP:0000494
12 limited elbow movement 32 HP:0002996
13 abnormality of the voice 32 HP:0001608
14 difficulty walking 32 HP:0002355
15 hallux valgus 32 HP:0001822
16 synophrys 32 HP:0000664
17 wide nose 32 HP:0000445
18 brachyturricephaly 32 HP:0000244
19 progressive pes cavus 32 HP:0008075
20 prominent nose 32 HP:0000448
21 broad nail 32 HP:0001821
22 broad palm 32 HP:0001169
23 posteriorly rotated ears 32 HP:0000358
24 camptodactyly of toe 32 HP:0001836
25 ventricular hypertrophy 32 HP:0001714
26 joint contracture of the hand 32 HP:0009473
27 marked muscular hypertrophy 32 HP:0009042
28 dislocation of toes 32 HP:0008141
29 pugilistic facies 32 HP:0000339

UMLS symptoms related to Uruguay Faciocardiomusculoskeletal Syndrome:


muscle weakness, joint stiffness, arthralgia, back pain, myalgia, bone pain, hemiplegia, torticollis, ophthalmoplegia, neck pain, jaw pain, low back pain, lassitude, 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, 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

Search Clinical Trials , NIH Clinical Center for Uruguay Faciocardiomusculoskeletal Syndrome

Genetic Tests for Uruguay Faciocardiomusculoskeletal Syndrome

Anatomical Context for Uruguay Faciocardiomusculoskeletal Syndrome

MalaCards organs/tissues related to Uruguay Faciocardiomusculoskeletal Syndrome:

41
Bone, Bone Marrow, Liver, Lung, Cortex, Brain, Kidney

Publications for Uruguay Faciocardiomusculoskeletal Syndrome

Articles related to Uruguay Faciocardiomusculoskeletal Syndrome:

(show all 42)
# Title Authors Year
1
World Arthritis Day 2018 - Perspectives on Rheumatic musculoskeletal diseases. ( 30285288 )
2018
2
Recommendations for the conduct of economic evaluations in osteoporosis: outcomes of an experts' consensus meeting organized by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and the US branch of the International Osteoporosis Foundation. ( 30382319 )
2018
3
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Poster Abstracts. ( 30054651 )
2018
4
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Committee of National Societies Abstracts. ( 30054652 )
2018
5
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Non-Sponsored Symposia Abstracts. ( 30054653 )
2018
6
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Meet-the-Expert Abstracts. ( 30054654 )
2018
7
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESPRM-ESCEO-IOF Symposium Abstracts. ( 30054655 )
2018
8
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): EUGMS-ESCEO-IOF Symposium Abstracts. ( 30054656 )
2018
9
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Oral Communication Abstracts. ( 30054657 )
2018
10
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESCEO-WHO Symposia Abstracts. ( 30054658 )
2018
11
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Satellite Symposia Abstracts. ( 30054659 )
2018
12
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): IOF-ESCEO Symposium Abstracts. ( 30054660 )
2018
13
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Educational Lecture Abstract. ( 30054661 )
2018
14
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Plenary Lectures Abstracts. ( 30054662 )
2018
15
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESCEO Symposia Abstracts. ( 30054663 )
2018
16
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Author Index. ( 30054664 )
2018
17
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. ( 30054665 )
2018
18
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases - the "Wco-iof-esceo Congress": The 18th edition of the WCO-IOF-ESCEO Congress - Krakow 2018. ( 30042609 )
2018
19
Benefits and safety of dietary protein for bone health-an expert consensus paper endorsed by the European Society for Clinical and Economical Aspects of Osteopororosis, Osteoarthritis, and Musculoskeletal Diseases and by the International Osteoporosis Foundation. ( 29740667 )
2018
20
Erratum to: World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Poster Abstracts. ( 29404623 )
2018
21
Applications of PET Imaging in the Evaluation of Musculoskeletal Diseases Among the Geriatric Population. ( 30322478 )
2018
22
Common language description of the term rheumatic and musculoskeletal diseases (RMDs) for use in communication with the lay public, healthcare providers and other stakeholders endorsed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). ( 29525777 )
2018
23
Common Language Description of the Term Rheumatic and Musculoskeletal Diseases (RMDs) for Use in Communication With the Lay Public, Healthcare Providers, and Other Stakeholders Endorsed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). ( 29532625 )
2018
24
Guidelines for the conduct of pharmacological clinical trials in hand osteoarthritis: Consensus of a Working Group of the European Society on Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO). ( 29287769 )
2017
25
Length of sickness absence and sustained return-to-work in mental disorders and musculoskeletal diseases: a cohort study of public sector employees. ( 28463382 )
2017
26
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Oral Communication Abstracts. ( 27188172 )
2016
27
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Non-sponsored Symposia Abstracts. ( 27188178 )
2016
28
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Satellite Symposia Abstracts. ( 27188177 )
2016
29
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): ESCEO Symposia Abstracts. ( 27188173 )
2016
30
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Meet-the-Expert Sessions. ( 27188175 )
2016
31
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Poster Abstracts. ( 27188176 )
2016
32
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Educational Lecture Abstract. ( 27188174 )
2016
33
WCO-IOF-ESCEO World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. ( 27188170 )
2016
34
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Plenary Lecture Abstracts. ( 27188171 )
2016
35
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Meet-the-Expert Sessions. ( 25895040 )
2015
36
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Committee of National Societies Abstracts. ( 25895044 )
2015
37
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Poster Abstracts. ( 25895041 )
2015
38
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Non-sponsored Symposia Abstracts. ( 25895043 )
2015
39
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. ( 25649344 )
2014
40
Developing Community-Based Rehabilitation Programs for Musculoskeletal Diseases in Low-Income Areas of Mexico: The Community-Based Rehabilitation for Low-Income Communities Living With Rheumatic Diseases (CONCORD) Protocol. ( 25474820 )
2014
41
CD146+ T lymphocytes are increased in both the peripheral circulation and in the synovial effusions of patients with various musculoskeletal diseases and display pro-inflammatory gene profiles. ( 19834966 )
2010
42
Biglycan knockout mice: new models for musculoskeletal diseases. ( 12975603 )
2002

Variations for Uruguay Faciocardiomusculoskeletal Syndrome

ClinVar genetic disease variations for Uruguay Faciocardiomusculoskeletal Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001449.4(FHL1): c.502-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome X, 136208453: 136208453
2 FHL1 NM_001449.4(FHL1): c.502-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome X, 135290612: 135290612

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....