LRS
MCID: LRS001
MIFTS: 49

Larsen Syndrome (LRS) malady

Bone, Fetal categories

Summaries for Larsen Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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).

MalaCards: Larsen Syndrome, also known as larsen syndrome, dominant type, is related to larsen syndrome, recessive type and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including frontal bossing/prominent forehead, flat face and hypertelorism. 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 brain, spinal cord and b cells, and related mouse phenotype skeleton.

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

NIH Rare Diseases:43 Larsen syndrome is characterized by numerous joint dislocations at birth, flexible joints, and a distinctive appearance to the face, hands and feet. larsen syndrome can be inherited in either an autosomal dominant or autosomal recessive pattern. changes in the flnb gene cause the autosomal dominant form of larsen syndrome. last updated: 5/4/2010

Wikipedia:64 Larsen syndrome (LS), is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Description from OMIM:47 150250

Aliases & Classifications for Larsen Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 61UMLS, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 21 47 10 61
larsen syndrome, dominant type 43 22
bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies 43
larsen syndrome, autosomal dominant 61
autosomal dominant larsen syndrome 49
dominant larsen syndrome 8
larsens syndrome 45
lrs1 43
lrs 21


External Ids:

Disease Ontology8 DOID:14764
OMIM47 150250
ICD10 via Orphanet26 Q68.8

Related Diseases for Larsen Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Larsen Syndrome:



Diseases related to larsen syndrome

Clinical Features for Larsen Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

150250

Clinical synopsis from OMIM:

150250

Symptoms:

49 (show all 27)
  • frontal bossing/prominent forehead
  • 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
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • conductive deafness/hearing loss
  • scoliosis
  • 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

Drugs & Therapeutics for Larsen Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Larsen Syndrome:

33
Brain, Spinal cord, B cells, Tongue

Animal Models for Larsen Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Larsen Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5FLNB, OFD1, GALNS, COL7A1

Publications for Larsen Syndrome

Sources:
51PubMed
See all sources

Articles related to Larsen Syndrome:

(show top 50)    (show all 78)
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
Antenatal diagnosis of Larsen syndrome. (20589471)
2010
4
Larsen syndrome: a review of the literature and case report. (21044106)
2010
5
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
6
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. (19085972)
2009
7
Larsen syndrome. (18820390)
2008
8
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. (18322662)
2008
9
Ulnar nerve palsy in a child with Larsen syndrome. (18352815)
2008
10
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. (18377309)
2008
11
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (18513679)
2008
12
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. (17202879)
2007
13
Aneurysm of the ductus arteriosus in a patient with Larsen syndrome. (17006654)
2006
14
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. (16648737)
2006
15
Mutations responsible for Larsen syndrome cluster in the FLNB protein. (16648377)
2006
16
Long tortuous aorta in a child with Larsen syndrome. (15776121)
2005
17
Larsen syndrome--lethal variety. (16388157)
2005
18
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. (15385022)
2004
19
Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. (15229923)
2004
20
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. (14745669)
2003
21
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. (12725593)
2003
22
General anaesthesia in a child with Larsen syndrome. (12712791)
2003
23
Larsen syndrome and its anaesthetic considerations. (12358662)
2002
24
Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome. (11343154)
2001
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
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. (1640425)
1992
37
Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. (1716760)
1991
38
Larsen syndrome: clinical features and treatment--a report of two cases. (2312716)
1990
39
Arterial tortuosity and dilatation in Larsen syndrome. (3405415)
1988
40
Tracheomalacia and bronchomalacia associated with Larsen syndrome. (3174275)
1988
41
Mixed hearing loss in Larsen syndrome. (3378369)
1988
42
A further patient with the lethal type of Larsen syndrome. (3172146)
1988
43
Cardiovascular manifestations in the Larsen syndrome. (6856406)
1983
44
Severe cardiac anomalies in sibs with Larsen syndrome. (6655668)
1983
45
Syndactyly with Larsen's syndrome. (217906)
1979
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Larsen Syndrome:

63 (show all 12)
id Symbol AA change Variation 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

Sources:
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

Compounds for genes affiliated with Larsen Syndrome

Sources:
45Novoseek, 24HMDB
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Compounds related to Larsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trypsinogen459.9FLNB, SCT
2keratan sulfate459.5CHST3, GALNS
3chondroitin45 2410.4CHST3, GALNS
4sulfate45 2410.4CHST3, GALNS
5chondroitin sulfate45 2410.3GALNS, CHST3
6glycosaminoglycan459.1GALNS, CHST3

GO Terms for genes affiliated with Larsen Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Larsen Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet