FCMSU
MCID: URG005
MIFTS: 30

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 58 76 6 74
Faciocardiomusculoskeletal Syndrome, Uruguay Type 58 76
Fcmsu 58 76
Fcms 58 76
Syndrome, Faciocardiomusculoskeletal, Uruguay Type 41
Musculoskeletal Diseases 74

Characteristics:

OMIM:

58
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:

33
uruguay faciocardiomusculoskeletal syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Uruguay Faciocardiomusculoskeletal Syndrome

UniProtKB/Swiss-Prot : 76 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 foix chavany marie syndrome and myoclonus, familial, 1, 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, 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 24)
# Related Disease Score Top Affiliating Genes
1 foix chavany marie syndrome 11.5
2 myoclonus, familial, 1 11.4
3 alzheimer disease 9.9
4 arteriovenous malformations of the brain 9.9
5 leukemia, chronic lymphocytic 2 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 lymphoma 9.9
14 endometrial hyperplasia 9.9
15 lymphocytic leukemia 9.9
16 hemorrhagic fever with renal syndrome 9.9
17 arteriovenous malformation 9.9
18 iron metabolism disease 9.9
19 basal cell carcinoma 9.9
20 kidney disease 9.9
21 hemorrhagic fever 9.9
22 leukemia, b-cell, chronic 9.9
23 dural sinus malformation 9.9
24 monosomy 13q34 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

Human phenotypes related to Uruguay Faciocardiomusculoskeletal Syndrome:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 prominent supraorbital ridges 33 HP:0000336
5 retrognathia 33 HP:0000278
6 everted lower lip vermilion 33 HP:0000232
7 cardiomyopathy 33 HP:0001638
8 congenital hip dislocation 33 HP:0001374
9 mitral regurgitation 33 HP:0001653
10 downslanted palpebral fissures 33 HP:0000494
11 limited elbow movement 33 HP:0002996
12 abnormality of the voice 33 HP:0001608
13 difficulty walking 33 HP:0002355
14 hallux valgus 33 HP:0001822
15 synophrys 33 HP:0000664
16 wide nose 33 HP:0000445
17 brachyturricephaly 33 HP:0000244
18 progressive pes cavus 33 HP:0008075
19 prominent nose 33 HP:0000448
20 broad nail 33 HP:0001821
21 broad palm 33 HP:0001169
22 posteriorly rotated ears 33 HP:0000358
23 camptodactyly of toe 33 HP:0001836
24 ventricular hypertrophy 33 HP:0001714
25 joint contracture of the hand 33 HP:0009473
26 marked muscular hypertrophy 33 HP:0009042
27 elevated serum creatine kinase 33 HP:0003236
28 dislocation of toes 33 HP:0008141
29 pugilistic facies 33 HP:0000339

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Uruguay Faciocardiomusculoskeletal Syndrome:


muscle weakness, joint stiffness, arthralgia, back pain, myalgia, ophthalmoplegia, bone pain, hemiplegia, torticollis, neck pain, jaw pain, low back pain, muscle cramp, metatarsalgia, spasm, spasmodic torticollis, flank pain, 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

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:

42
Bone

Publications for Uruguay Faciocardiomusculoskeletal Syndrome

Articles related to Uruguay Faciocardiomusculoskeletal Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
WHO/ILO work-related burden of disease and injury: Protocol for systematic reviews of exposure to occupational ergonomic risk factors and of the effect of exposure to occupational ergonomic risk factors on osteoarthritis of hip or knee and selected other musculoskeletal diseases. ( 30583853 )
2019
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 )
2019
3
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
4
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Poster Abstracts. ( 30054651 )
2018
5
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Committee of National Societies Abstracts. ( 30054652 )
2018
6
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Non-Sponsored Symposia Abstracts. ( 30054653 )
2018
7
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Meet-the-Expert Abstracts. ( 30054654 )
2018
8
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESPRM-ESCEO-IOF Symposium Abstracts. ( 30054655 )
2018
9
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): EUGMS-ESCEO-IOF Symposium Abstracts. ( 30054656 )
2018
10
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Oral Communication Abstracts. ( 30054657 )
2018
11
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESCEO-WHO Symposia Abstracts. ( 30054658 )
2018
12
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Satellite Symposia Abstracts. ( 30054659 )
2018
13
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): IOF-ESCEO Symposium Abstracts. ( 30054660 )
2018
14
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Educational Lecture Abstract. ( 30054661 )
2018
15
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Plenary Lectures Abstracts. ( 30054662 )
2018
16
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): ESCEO Symposia Abstracts. ( 30054663 )
2018
17
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2018): Author Index. ( 30054664 )
2018
18
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. ( 30054665 )
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
Inappropriate claims from non-equivalent medications in osteoarthritis: a position paper endorsed by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO). ( 29177637 )
2018
22
Applications of PET Imaging in the Evaluation of Musculoskeletal Diseases Among the Geriatric Population. ( 30322478 )
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). ( 29525777 )
2018
24
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
25
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
26
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Poster Abstracts. ( 28741015 )
2017
27
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): World Health Organization (WHO) Abstracts. ( 28741016 )
2017
28
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Committee of National Societies Abstracts. ( 28741017 )
2017
29
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Non-sponsored Symposia Abstracts. ( 28741018 )
2017
30
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Educational Lecture Abstracts. ( 28741019 )
2017
31
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Satellite Symposia Abstracts. ( 28741020 )
2017
32
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Oral Communication Abstracts. ( 28741021 )
2017
33
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Honorary Lecture Abstracts. ( 28741022 )
2017
34
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Plenary Lectures Abstracts. ( 28741023 )
2017
35
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): Meet-the-Experts Abstracts. ( 28741024 )
2017
36
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2017): ESCEO Symposia Abstracts. ( 28741025 )
2017
37
WORLD CONGRESS ON OSTEOPOROSIS, OSTEOARTHRITIS AND MUSCULOSKELETAL DISEASES. ( 28741027 )
2017
38
Vitamin D status correction in Saudi Arabia: an experts' consensus under the auspices of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis, and Musculoskeletal Diseases (ESCEO). ( 28004295 )
2017
39
The role of calcium supplementation in healthy musculoskeletal ageing : An expert consensus meeting of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and the International Foundation for Osteoporosis (IOF). ( 27761590 )
2017
40
Length of sickness absence and sustained return-to-work in mental disorders and musculoskeletal diseases: a cohort study of public sector employees. ( 28463382 )
2017
41
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Oral Communication Abstracts. ( 27188172 )
2016
42
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Non-sponsored Symposia Abstracts. ( 27188178 )
2016
43
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Satellite Symposia Abstracts. ( 27188177 )
2016
44
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): ESCEO Symposia Abstracts. ( 27188173 )
2016
45
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Meet-the-Expert Sessions. ( 27188175 )
2016
46
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Poster Abstracts. ( 27188176 )
2016
47
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Educational Lecture Abstract. ( 27188174 )
2016
48
WCO-IOF-ESCEO World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. ( 27188170 )
2016
49
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Plenary Lecture Abstracts. ( 27188171 )
2016
50
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Committee of National Societies Abstracts. ( 27188179 )
2016

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 rs1556639352 GRCh38 Chromosome X, 136208453: 136208453
2 FHL1 NM_001449.4(FHL1): c.502-2A> G single nucleotide variant Pathogenic rs1556639352 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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