MCID: URG005
MIFTS: 35

Uruguay Faciocardiomusculoskeletal Syndrome

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
Musculoskeletal Diseases 44 73
Fcmsu 57 75
Fcms 57 75
Syndrome, Faciocardiomusculoskeletal, Uruguay Type 40

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 foix chavany marie syndrome and myoclonus, familial cortical, and has symptoms including arthralgia, back pain and neck pain. 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

CDC : 3 Agriculture

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 11.3
2 myoclonus, familial cortical 11.1
3 toxic oil syndrome 10.7
4 osteoporosis 10.1
5 osteoarthritis 10.1
6 leukemia, chronic lymphocytic 2 9.8
7 leukemia, chronic lymphocytic 9.8
8 basal cell carcinoma 1 9.8
9 myelodysplastic syndrome 9.8
10 leukemia 9.8
11 hemorrhagic fever with renal syndrome 9.8
12 basal cell carcinoma 9.8
13 hemorrhagic fever 9.8
14 leukemia, b-cell, chronic 9.8
15 bone deterioration disease 9.6 BMP7 CILP
16 achondroplasia 9.5
17 hemochromatosis, type 1 9.5
18 muscular dystrophy, duchenne type 9.5
19 brittle bone disorder 9.5
20 arthropathy 9.5
21 muscular dystrophy 9.5
22 type i 9.5
23 bone structure disease 9.5 BMP7 CILP
24 muscle hypertrophy 9.0 FHL1 MSTN

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 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

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

Neurologic Central Nervous System:
difficulty walking
normal intelligence

Head And Neck Eyes:
synophrys
downslanting palpebral fissures
large eyebrows

Head And Neck Head:
brachyturricephaly

Skeletal Pelvis:
congenital hip dislocation

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 26)
# 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 mitral regurgitation 32 HP:0001653
10 downslanted palpebral fissures 32 HP:0000494
11 limited elbow movement 32 HP:0002996
12 abnormality of the voice 32 HP:0001608
13 hallux valgus 32 HP:0001822
14 synophrys 32 HP:0000664
15 brachyturricephaly 32 HP:0000244
16 progressive pes cavus 32 HP:0008075
17 broad nail 32 HP:0001821
18 broad palm 32 HP:0001169
19 congenital hip dislocation 32 HP:0001374
20 posteriorly rotated ears 32 HP:0000358
21 camptodactyly of toe 32 HP:0001836
22 ventricular hypertrophy 32 HP:0001714
23 joint contracture of the hand 32 HP:0009473
24 marked muscular hypertrophy 32 HP:0009042
25 dislocation of toes 32 HP:0008141
26 pugilistic facies 32 HP:0000339

UMLS symptoms related to Uruguay Faciocardiomusculoskeletal Syndrome:


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

GenomeRNAi Phenotypes related to Uruguay Faciocardiomusculoskeletal Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 8.92 BMP7 CILP FHL1 MSTN

Drugs & Therapeutics for Uruguay Faciocardiomusculoskeletal Syndrome

Search Clinical Trials , NIH Clinical Center for Uruguay Faciocardiomusculoskeletal Syndrome

Cochrane evidence based reviews: musculoskeletal diseases

Genetic Tests for Uruguay Faciocardiomusculoskeletal Syndrome

Anatomical Context for Uruguay Faciocardiomusculoskeletal Syndrome

MalaCards organs/tissues related to Uruguay Faciocardiomusculoskeletal Syndrome:

41
Bone

Publications for Uruguay Faciocardiomusculoskeletal Syndrome

Articles related to Uruguay Faciocardiomusculoskeletal Syndrome:

(show all 26)
# Title Authors Year
1
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy. ( 28605144 )
2017
2
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
3
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Oral Communication Abstracts. ( 27188172 )
2016
4
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Non-sponsored Symposia Abstracts. ( 27188178 )
2016
5
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Satellite Symposia Abstracts. ( 27188177 )
2016
6
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): ESCEO Symposia Abstracts. ( 27188173 )
2016
7
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Meet-the-Expert Sessions. ( 27188175 )
2016
8
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Poster Abstracts. ( 27188176 )
2016
9
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Educational Lecture Abstract. ( 27188174 )
2016
10
WCO-IOF-ESCEO World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. ( 27188170 )
2016
11
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Plenary Lecture Abstracts. ( 27188171 )
2016
12
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2016): Committee of National Societies Abstracts. ( 27188179 )
2016
13
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Meet-the-Expert Sessions. ( 25895040 )
2015
14
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Committee of National Societies Abstracts. ( 25895044 )
2015
15
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Poster Abstracts. ( 25895041 )
2015
16
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Non-sponsored Symposia Abstracts. ( 25895043 )
2015
17
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): Satellite Symposia Abstracts. ( 25895042 )
2015
18
World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2015): IOF Abstracts. ( 25895039 )
2015
19
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. ( 25649344 )
2014
20
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
21
Musculoskeletal disease burden of hereditary hemochromatosis. ( 20722017 )
2010
22
Benefits of molecular pathology in the diagnosis of musculoskeletal disease : Part II of a two-part review: bone tumors and metabolic disorders. ( 19669759 )
2010
23
Signal transduction pathway through activin receptors as a therapeutic target of musculoskeletal diseases and cancer. ( 17878607 )
2008
24
Myostatin as a therapeutic target for musculoskeletal disease. ( 18425412 )
2008
25
Biglycan knockout mice: new models for musculoskeletal diseases. ( 12975603 )
2002
26
Granulomatous musculoskeletal disease: sarcoidosis versus tuberculosis. ( 3437431 )
1987

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

Cellular components related to Uruguay Faciocardiomusculoskeletal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 BMP7 CILP

Biological processes related to Uruguay Faciocardiomusculoskeletal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.4 BMP7 MSTN
2 animal organ morphogenesis GO:0009887 9.37 BMP7 FHL1
3 muscle organ development GO:0007517 9.32 FHL1 MSTN
4 SMAD protein signal transduction GO:0060395 9.26 BMP7 MSTN
5 cell development GO:0048468 9.16 BMP7 MSTN
6 regulation of MAPK cascade GO:0043408 8.96 BMP7 MSTN
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.62 BMP7 MSTN

Molecular functions related to Uruguay Faciocardiomusculoskeletal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 BMP7 MSTN
2 growth factor activity GO:0008083 9.16 BMP7 MSTN
3 heparin binding GO:0008201 8.96 BMP7 MSTN
4 transforming growth factor beta receptor binding GO:0005160 8.62 BMP7 MSTN

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
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