LRS
MCID: LRS001
MIFTS: 57

Larsen Syndrome (LRS) malady

Bone diseases, Fetal diseases categories

Summaries for Larsen Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Larsen syndrome is a condition that causes abnormal development of the bones. signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the flnb gene. management may include surgeries (especially for hip dislocation), and physiotherapy. last updated: 3/31/2014

MalaCards: Larsen Syndrome, also known as autosomal dominant larsen syndrome, is related to cervicitis and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including vertebral segmentation anomaly/hemivertebrae, syndactyly of fingers/interdigital palm and laryngomalacia. An important gene associated with Larsen Syndrome is FLNB (filamin B, beta). The compounds trypsinogen and keratan sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung, and related mouse phenotype skeleton.

Disease Ontology:8 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.

Genetics Home Reference:21 Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate).

Wikipedia:63 Larsen syndrome (LS), is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Description from OMIM:46 150250

Aliases & Classifications for Larsen Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 60UMLS, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
autosomal dominant larsen syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

larsen syndrome 8 9 42 20 22 21 46 10 60
autosomal dominant larsen syndrome 42 48
dominant larsen syndrome 8 22
lrs 42 21
larsen syndrome, autosomal dominant 60
larsens syndrome 44


External Ids:

Disease Ontology8 DOID:14764
OMIM46 150250
ICD10 via Orphanet26 Q68.8

Related Diseases for Larsen Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Larsen Syndrome:



Diseases related to larsen syndrome

Clinical Features for Larsen Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

150250

Clinical synopsis from OMIM:

150250

Symptoms:

48 (show all 27)
  • vertebral segmentation anomaly/hemivertebrae
  • syndactyly of fingers/interdigital palm
  • laryngomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • structural anomalies of the cardio-circulatory system
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • epiphyseal anomaly
  • short stature/dwarfism/nanism
  • scoliosis
  • conductive deafness/hearing loss
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • flat face
  • hypertelorism
  • depressed premaxillary region/midface
  • depressed nasal bridge
  • short hand/brachydactyly
  • long hand/arachnodactyly
  • broad/bifid thumb
  • absent/small fingernails/anonychia of hands
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • wrist/carpal anomalies
  • craniostenosis/craniosynostosis/sutural synostosis
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Larsen Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Larsen Syndrome

Drug clinical trials:

Search ClinicalTrials for Larsen Syndrome

Search NIH Clinical Center for Larsen Syndrome

Search CenterWatch for Larsen Syndrome

Genetic Tests for Larsen Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Larsen Syndrome:

id Genetic test Affiliating Genes
1 Larsen Syndrome20 22 FLNB
2 Larsen Syndrome, Dominant Type22

Anatomical Context for Larsen Syndrome

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32MalaCards
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MalaCards organs/tissues related to Larsen Syndrome:

32
Bone, Testes, Lung, Brain, Tongue, Spinal cord

Animal Models for Larsen Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Larsen Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5FLNB, OFD1, GALNS, COL7A1

Publications for Larsen Syndrome

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50PubMed
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Articles related to Larsen Syndrome:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. (23080426)
2013
2
Malignant hyperthermia-like episode in a child with Larsen syndrome. (22412793)
2012
3
The management of knee dislocation in a child with Larsen syndrome. (21876991)
2011
4
Antenatal diagnosis of Larsen syndrome. (20589471)
2010
5
Larsen syndrome: a review of the literature and case report. (21044106)
2010
6
Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature. (19829852)
2009
7
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. (19085972)
2009
8
Larsen syndrome. (18820390)
2008
9
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. (18322662)
2008
10
Ulnar nerve palsy in a child with Larsen syndrome. (18352815)
2008
11
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. (18377309)
2008
12
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (18513679)
2008
13
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. (17202879)
2007
14
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (16801345)
2007
15
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. (16648737)
2006
16
Mutations responsible for Larsen syndrome cluster in the FLNB protein. (16648377)
2006
17
Long tortuous aorta in a child with Larsen syndrome. (15776121)
2005
18
Larsen syndrome--lethal variety. (16388157)
2005
19
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. (15385022)
2004
20
Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. (15229923)
2004
21
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. (14745669)
2003
22
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. (12725593)
2003
23
General anaesthesia in a child with Larsen syndrome. (12712791)
2003
24
Larsen syndrome and its anaesthetic considerations. (12358662)
2002
25
Larsen syndrome associated with severe congenital hydrocephalus. (11837607)
2001
26
Prenatal sonographic diagnosis of Larsen syndrome. (10841065)
2000
27
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism. (11045584)
2000
28
Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. (10546105)
1999
29
On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene. (9219012)
1997
30
Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? (9217208)
1997
31
Brain dysplasia associated with Larsen-like syndrome. (8652025)
1996
32
Cervical kyphosis in patients who have Larsen syndrome. (8609132)
1996
33
A case of Larsen syndrome with severe cervical malformations. (7917129)
1994
34
Larsen syndrome in siblings with consanguineous parents. (7526939)
1994
35
The Larsen syndrome. The diagnostic contribution of the analysis of the metacarpophalangeal pattern profile. (8357567)
1993
36
Larsen syndrome with cardiac anomaly. (1500148)
1992
37
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. (1640425)
1992
38
Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. (1716760)
1991
39
Larsen syndrome: clinical features and treatment--a report of two cases. (2312716)
1990
40
Arterial tortuosity and dilatation in Larsen syndrome. (3405415)
1988
41
Tracheomalacia and bronchomalacia associated with Larsen syndrome. (3174275)
1988
42
Mixed hearing loss in Larsen syndrome. (3378369)
1988
43
A further patient with the lethal type of Larsen syndrome. (3172146)
1988
44
Cardiovascular manifestations in the Larsen syndrome. (6856406)
1983
45
Separating Larsen syndrome from the "arthrogryposis basket". (7328098)
1981
46
Quadriplegia in Larsen syndrome. (890112)
1977
47
The Larsen syndrome and glial proliferation in the brain. (899784)
1977
48
Striking aortic root dilatation in a patient with the Larsen syndrome. (1127533)
1975
49
The Larsen syndrome, autosomal dominant form. (1227522)
1975
50
A patient with the Larsen syndrome. (1227521)
1975

Genetic Variations for Larsen Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Larsen Syndrome:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1FLNBp.Phe161CysVAR_033069
2FLNBp.Gly168SerVAR_033070
3FLNBp.Glu227LysVAR_033075
4FLNBp.Leu234ValVAR_033076
5FLNBp.Gly361SerVAR_033078
6FLNBp.Gly363GluVAR_033079
7FLNBp.Leu1431ArgVAR_033081
8FLNBp.Gly1586ArgVAR_033083rs28939706
9FLNBp.Val1592AspVAR_033084
10FLNBp.Pro1603LeuVAR_033085
11FLNBp.Gly1691SerVAR_033086
12FLNBp.Gly1834ArgVAR_033087

Expression for genes affiliated with Larsen Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Larsen Syndrome

Search GEO for disease gene expression data for Larsen Syndrome.

Pathways for genes affiliated with Larsen Syndrome

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Compounds for genes affiliated with Larsen Syndrome

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44Novoseek, 24HMDB
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Compounds related to Larsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trypsinogen449.9FLNB, SCT
2keratan sulfate449.5CHST3, GALNS
3chondroitin44 2410.4CHST3, GALNS
4sulfate44 2410.4CHST3, GALNS
5chondroitin sulfate44 2410.3GALNS, CHST3
6glycosaminoglycan449.1CHST3, GALNS

GO Terms for genes affiliated with Larsen Syndrome

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16Gene Ontology
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Biological processes related to Larsen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G2/M transition of mitotic cell cycleGO:0000869.2DNM2, OFD1
2glycosaminoglycan metabolic processGO:0302039.1CHST3, GALNS

Products for genes affiliated with Larsen Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Larsen Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet