LRS
MCID: LRS001
MIFTS: 58

Larsen Syndrome (LRS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Larsen Syndrome

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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 based summary: Larsen Syndrome, also known as autosomal dominant larsen syndrome, is related to cervicitis and pyruvate kinase deficiency, and has symptoms including frontal bossing/prominent forehead, flat face and hypertelorism. 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: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:65 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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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 62UMLS, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Larsen Syndrome, Aliases & Descriptions:

Name: Larsen Syndrome 8 9 42 20 22 21 46 10 62
Autosomal Dominant Larsen Syndrome 42 48
Dominant Larsen Syndrome 8 22
 
Larsens Syndrome 44 62
Lrs 42 21
Larsen Syndrome, Autosomal Dominant 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:14764
OMIM46 150250
ICD10 via Orphanet26 Q68.8
UMLS via Orphanet63 C2931648

Related Diseases for Larsen Syndrome

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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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Symptoms by clinical synopsis from OMIM:

150250

Clinical features from OMIM:

150250

Symptoms:

48 (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

HPO human phenotypes related to Larsen Syndrome:

(show all 70)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 arachnodactyly hallmark (90%) HP:0001166
5 joint dislocation hallmark (90%) HP:0001373
6 joint hypermobility hallmark (90%) HP:0001382
7 anonychia hallmark (90%) HP:0001798
8 frontal bossing hallmark (90%) HP:0002007
9 depressed nasal bridge hallmark (90%) HP:0005280
10 abnormality of thumb phalanx hallmark (90%) HP:0009602
11 abnormality of the wrist typical (50%) HP:0003019
12 cryptorchidism occasional (7.5%) HP:0000028
13 cleft palate occasional (7.5%) HP:0000175
14 conductive hearing impairment occasional (7.5%) HP:0000405
15 craniosynostosis occasional (7.5%) HP:0001363
16 laryngomalacia occasional (7.5%) HP:0001601
17 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
18 respiratory insufficiency occasional (7.5%) HP:0002093
19 scoliosis occasional (7.5%) HP:0002650
20 vertebral segmentation defect occasional (7.5%) HP:0003422
21 short stature occasional (7.5%) HP:0004322
22 abnormality of the epiphyses occasional (7.5%) HP:0005930
23 finger syndactyly occasional (7.5%) HP:0006101
24 cognitive impairment occasional (7.5%) HP:0100543
25 autosomal dominant inheritance HP:0000006
26 cryptorchidism HP:0000028
27 cleft palate HP:0000175
28 cleft upper lip HP:0000204
29 malar flattening HP:0000272
30 hypertelorism HP:0000316
31 conductive hearing impairment HP:0000405
32 shallow orbits HP:0000586
33 hypodontia HP:0000668
34 pectus excavatum HP:0000767
35 pectus carinatum HP:0000768
36 spatulate thumbs HP:0001222
37 intellectual disability HP:0001249
38 joint laxity HP:0001388
39 intrauterine growth retardation HP:0001511
40 ventricular septal defect HP:0001629
41 defect in the atrial septum HP:0001631
42 aortic dilatation HP:0001724
43 talipes equinovarus HP:0001762
44 talipes equinovalgus HP:0001772
45 short nail HP:0001799
46 frontal bossing HP:0002007
47 spinal cord compression HP:0002176
48 scoliosis HP:0002650
49 tracheal stenosis HP:0002777
50 tracheomalacia HP:0002779
51 bronchomalacia HP:0002780
52 hip dislocation HP:0002827
53 cervical kyphosis HP:0002947
54 elbow dislocation HP:0003042
55 spina bifida occulta HP:0003298
56 spondylolysis HP:0003304
57 dislocated wrist HP:0003994
58 accessory carpal bones HP:0004232
59 short stature HP:0004322
60 beaking of vertebral bodies HP:0004568
61 knee dislocation HP:0004976
62 depressed nasal bridge HP:0005280
63 multiple carpal ossification centers HP:0006067
64 corneal opacity HP:0007957
65 bipartite calcaneus HP:0008127
66 hypoplastic cervical vertebrae HP:0008434
67 short metacarpal HP:0010049
68 short metatarsal HP:0010743
69 prominent forehead HP:0011220
70 flat face HP:0012368

Drugs & Therapeutics for Larsen Syndrome

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Drug clinical trials:

Search ClinicalTrials for Larsen Syndrome

Search NIH Clinical Center for Larsen Syndrome

Genetic Tests for Larsen Syndrome

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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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MalaCards organs/tissues related to Larsen Syndrome:

32
Bone, Testes, Lung, Brain, Spinal cord

Animal Models for Larsen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Larsen Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2OFD1, COL7A1, FLNB
2MP:00053908.2GALNS, OFD1, COL7A1, FLNB

Publications for Larsen Syndrome

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Articles related to Larsen Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). (24300290)
2014
2
Dural ectasia in a child with Larsen syndrome. (24674893)
2014
3
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. (24820731)
2014
4
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. (23080426)
2013
5
Pneumoperitoneum in a patient with Larsen syndrome. (24221813)
2013
6
Ossicular malposition in Larsen syndrome: a case report. (24968394)
2012
7
Malignant hyperthermia-like episode in a child with Larsen syndrome. (22412793)
2012
8
The management of knee dislocation in a child with Larsen syndrome. (21876991)
2011
9
Antenatal diagnosis of Larsen syndrome. (20589471)
2010
10
Larsen syndrome: a review of the literature and case report. (21044106)
2010
11
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
12
Larsen syndrome and malignant hyperthermia. (20017874)
2009
13
Malignant hyperthermia in Larsen syndrome. (19691711)
2009
14
Larsen syndrome. (18820390)
2008
15
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. (18322662)
2008
16
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. (17202879)
2007
17
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (16801345)
2007
18
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. (16450278)
2006
19
Aneurysm of the ductus arteriosus in a patient with Larsen syndrome. (17006654)
2006
20
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. (16648737)
2006
21
Long tortuous aorta in a child with Larsen syndrome. (15776121)
2005
22
Larsen syndrome--lethal variety. (16388157)
2005
23
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. (15385022)
2004
24
Sevoflurane for general anaesthetic management in a patient with Larsen syndrome. (14962340)
2004
25
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. (14745669)
2003
26
Larsen syndrome and its anaesthetic considerations. (12358662)
2002
27
Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome. (11343154)
2001
28
Larsen syndrome associated with severe congenital hydrocephalus. (11837607)
2001
29
Obstetric anesthetic management of a parturient with Larsen syndrome and short stature. (11323359)
2001
30
Prenatal sonographic diagnosis of Larsen syndrome. (10841065)
2000
31
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. (10735637)
2000
32
Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. (10546105)
1999
33
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
34
Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? (9217208)
1997
35
Cervical kyphosis in patients who have Larsen syndrome. (8609132)
1996
36
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
37
A case of Larsen syndrome with severe cervical malformations. (7917129)
1994
38
Prenatal diagnosis and obstetric management of Larsen syndrome. (8469494)
1993
39
Larsen syndrome presenting as a familial syndrome of dwarfism, distinct oldish facial appearance and bilateral clubfeet in mother and daughter. (8471220)
1993
40
Larsen syndrome with cardiac anomaly. (1500148)
1992
41
Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. (1716760)
1991
42
Larsen syndrome: clinical features and treatment--a report of two cases. (2312716)
1990
43
Arterial tortuosity and dilatation in Larsen syndrome. (3405415)
1988
44
Tracheomalacia and bronchomalacia associated with Larsen syndrome. (3174275)
1988
45
Oral and craniofacial morphology of a patient with Larsen syndrome. (3793859)
1986
46
Cardiovascular manifestations in the Larsen syndrome. (6856406)
1983
47
Severe cardiac anomalies in sibs with Larsen syndrome. (6655668)
1983
48
Separating Larsen syndrome from the "arthrogryposis basket". (7328098)
1981
49
Quadriplegia in Larsen syndrome. (890112)
1977
50
Larsen syndrome in two generations of an Italian family. (1018317)
1976

Variations for Larsen Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:

64 (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:

6 (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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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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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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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Larsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trypsinogen4410.0FLNB, SCT
2Keratan249.7GALNS, CHST3
3keratan sulfate449.6CHST3, GALNS
4chondroitin44 2410.6GALNS, CHST3
5chondroitin sulfate44 2410.6GALNS, CHST3
6glycosaminoglycan449.5CHST3, GALNS
7sulfate44 2410.4GALNS, CHST3
8heparan sulfate44 2410.1GALNS, CHST3
9cysteine449.0GALNS, COL7A1, SCT
10arginine448.9SCT, COL7A1, GALNS

GO Terms for genes affiliated with Larsen Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet