LRS
MCID: LRS001
MIFTS: 57

Larsen Syndrome (LRS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Larsen Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 skeletal dysplasias and cervicitis, and has symptoms including depressed premaxillary region/midface, flat face and undescended/ectopic testes/cryptorchidia/unfixed testes. An important gene associated with Larsen Syndrome is FLNB (filamin B, beta), and among its related pathways is Clathrin dependent protein traffic. The compounds trypsinogen and Keratan have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:9 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.

Wikipedia:66 Larsen syndrome (LS), is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Description from OMIM:48 150250

Aliases & Classifications for Larsen Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 63UMLS, 50Orphanet, 46Novoseek, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
autosomal dominant larsen syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

larsen syndrome 9 10 44 21 23 22 48 11 63
autosomal dominant larsen syndrome 44 50
dominant larsen syndrome 9 23
lrs 44 22
larsen syndrome, autosomal dominant 63
larsens syndrome 46


External Ids:

Disease Ontology9 DOID:14764
OMIM48 150250
ICD10 via Orphanet27 Q68.8
UMLS via Orphanet64 C2931648

Related Diseases for Larsen Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Larsen Syndrome:



Diseases related to larsen syndrome

Symptoms for Larsen Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

150250

Clinical features from OMIM:

150250

Symptoms:

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

Drugs & Therapeutics for Larsen Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Larsen Syndrome:

id Genetic test Affiliating Genes
1 Larsen Syndrome21 23 FLNB
2 Larsen Syndrome, Dominant Type23

Anatomical Context for Larsen Syndrome

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34MalaCards
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MalaCards organs/tissues related to Larsen Syndrome:

34
Bone, Testes, Lung, Spinal cord, Brain

Animal Models for Larsen Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Larsen Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2OFD1, COL7A1, FLNB
2MP:00053908.2GALNS, OFD1, COL7A1, FLNB

Publications for Larsen Syndrome

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53PubMed
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Articles related to Larsen Syndrome:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). (24300290)
2014
2
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. (23080426)
2013
3
Pneumoperitoneum in a patient with Larsen syndrome. (24221813)
2013
4
Malignant hyperthermia-like episode in a child with Larsen syndrome. (22412793)
2012
5
The management of knee dislocation in a child with Larsen syndrome. (21876991)
2011
6
Antenatal diagnosis of Larsen syndrome. (20589471)
2010
7
Larsen syndrome: a review of the literature and case report. (21044106)
2010
8
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
9
Larsen syndrome and malignant hyperthermia. (20017874)
2009
10
Malignant hyperthermia in Larsen syndrome. (19691711)
2009
11
Larsen syndrome. (18820390)
2008
12
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. (18322662)
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
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. (16450278)
2006
16
Aneurysm of the ductus arteriosus in a patient with Larsen syndrome. (17006654)
2006
17
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. (16648737)
2006
18
Long tortuous aorta in a child with Larsen syndrome. (15776121)
2005
19
Larsen syndrome--lethal variety. (16388157)
2005
20
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. (15385022)
2004
21
Sevoflurane for general anaesthetic management in a patient with Larsen syndrome. (14962340)
2004
22
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. (14745669)
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
Obstetric anesthetic management of a parturient with Larsen syndrome and short stature. (11323359)
2001
27
Prenatal sonographic diagnosis of Larsen syndrome. (10841065)
2000
28
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. (10735637)
2000
29
Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. (10546105)
1999
30
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
31
Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? (9217208)
1997
32
Cervical kyphosis in patients who have Larsen syndrome. (8609132)
1996
33
Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. (7485161)
1995
34
A case of Larsen syndrome with severe cervical malformations. (7917129)
1994
35
Larsen syndrome in siblings with consanguineous parents. (7526939)
1994
36
Prenatal diagnosis and obstetric management of Larsen syndrome. (8469494)
1993
37
Larsen syndrome presenting as a familial syndrome of dwarfism, distinct oldish facial appearance and bilateral clubfeet in mother and daughter. (8471220)
1993
38
Larsen syndrome with cardiac anomaly. (1500148)
1992
39
Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. (1716760)
1991
40
Larsen syndrome: clinical features and treatment--a report of two cases. (2312716)
1990
41
Arterial tortuosity and dilatation in Larsen syndrome. (3405415)
1988
42
Tracheomalacia and bronchomalacia associated with Larsen syndrome. (3174275)
1988
43
Mixed hearing loss in Larsen syndrome. (3378369)
1988
44
Oral and craniofacial morphology of a patient with Larsen syndrome. (3793859)
1986
45
Cardiovascular manifestations in the Larsen syndrome. (6856406)
1983
46
Severe cardiac anomalies in sibs with Larsen syndrome. (6655668)
1983
47
Separating Larsen syndrome from the "arthrogryposis basket". (7328098)
1981
48
Quadriplegia in Larsen syndrome. (890112)
1977
49
Larsen syndrome in two generations of an Italian family. (1018317)
1976
50
Striking aortic root dilatation in a patient with the Larsen syndrome. (1127533)
1975

Variations for Larsen Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:

65 (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

Clinvar genetic disease variations for Larsen Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1FLNBNM_001457.3(FLNB): c.1081G> A (p.Gly361Ser)single nucleotide variantPathogenicrs80356509GRCh37Chr 3, 58083638: 58083638
2FLNBNM_001457.3(FLNB): c.1088G> A (p.Gly363Glu)single nucleotide variantPathogenicrs80356510GRCh37Chr 3, 58083645: 58083645
3FLNBNM_001457.3(FLNB): c.4292T> G (p.Leu1431Arg)single nucleotide variantPathogenicrs80356511GRCh37Chr 3, 58116537: 58116537
4FLNBNM_001457.3(FLNB): c.4711_4713delAAT (p.Asn1571del)deletionPathogenicrs80356512GRCh37Chr 3, 58121745: 58121747
5FLNBNM_001457.3(FLNB): c.4775T> A (p.Val1592Asp)single nucleotide variantPathogenicrs80356514GRCh37Chr 3, 58121809: 58121809
6FLNBNM_001457.3(FLNB): c.4808C> T (p.Pro1603Leu)single nucleotide variantPathogenicrs80356515GRCh37Chr 3, 58121842: 58121842
7FLNBNM_001457.3(FLNB): c.5500G> A (p.Gly1834Arg)single nucleotide variantPathogenicrs80356516GRCh37Chr 3, 58131722: 58131722
8FLNBNM_001457.3(FLNB): c.700C> G (p.Leu234Val)single nucleotide variantPathogenicrs80356507GRCh37Chr 3, 58067416: 58067416
9FLNBNM_001457.3(FLNB): c.482T> G (p.Phe161Cys)single nucleotide variantPathogenicrs80356506GRCh37Chr 3, 58062962: 58062962
10FLNBNM_001457.3(FLNB): c.4756G> A (p.Gly1586Arg)single nucleotide variantPathogenicrs80356513GRCh37Chr 3, 58121790: 58121790
11FLNBNM_001457.3(FLNB): c.679G> A (p.Glu227Lys)single nucleotide variantPathogenicrs80356508GRCh37Chr 3, 58067395: 58067395
12FLNBNM_001457.3(FLNB): c.5071G> A (p.Gly1691Ser)single nucleotide variantPathogenicrs80356503GRCh37Chr 3, 58124218: 58124218

Expression for genes affiliated with Larsen Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Larsen Syndrome

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Pathways for genes affiliated with Larsen Syndrome

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51PathCards, 13EMD Millipore, 61Thomson Reuters
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Pathways related to Larsen Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3DNM2, FLNB

Compounds for genes affiliated with Larsen Syndrome

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46Novoseek, 25HMDB
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Compounds related to Larsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trypsinogen4610.0FLNB, SCT
2Keratan259.7GALNS, CHST3
3keratan sulfate469.6CHST3, GALNS
4chondroitin46 2510.6GALNS, CHST3
5chondroitin sulfate46 2510.6GALNS, CHST3
6glycosaminoglycan469.5CHST3, GALNS
7sulfate46 2510.4GALNS, CHST3
8heparan sulfate46 2510.1GALNS, CHST3
9cysteine469.0GALNS, COL7A1, SCT
10arginine468.9SCT, COL7A1, GALNS

GO Terms for genes affiliated with Larsen Syndrome

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17Gene 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:0000869.2OFD1, DNM2
2glycosaminoglycan metabolic processGO:0302039.1GALNS, CHST3

Products for genes affiliated with Larsen Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Larsen Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet