LRS
MCID: LRS001
MIFTS: 47

Larsen Syndrome (LRS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Larsen Syndrome

MalaCards integrated aliases for Larsen Syndrome:

Name: Larsen Syndrome 58 12 77 54 26 60 76 38 30 13 6 15 41 74
Larsen Syndrome, Dominant Type 77 30 6 74
Lrs 58 54 26 76
Autosomal Dominant Larsen Syndrome 54
Dominant Larsen Syndrome 12
Joint Dislocations 45
Larsens Syndrome 56

Characteristics:

Orphanet epidemiological data:

60
larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variation
autosomal recessive inheritance has also been suggested
joint dislocations become less frequent with age


HPO:

33
larsen syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Larsen Syndrome

NIH Rare Diseases : 54 Larsen syndrome is a disorder of the 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, feet, and fingers, with square-shape finger tips. The X-rays usually show small extra bones in their wrists and ankles. Other features may include short stature, hypermobility, cleft palate, hearing loss, and an abnormal curvature of the spine that may result in weakness of the arms and/or legs and other complications. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Treatment depend on the problems that are present, and may include surgeries for hip dislocation, and/or to stabilize the spine, and/or to correct a cleft palate. Physiotherapy is indicated in most cases. There are several bone disorders that are caused by mutations in the FLNB gene.  Some are considered mild (spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe (atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia).

MalaCards based summary : Larsen Syndrome, also known as larsen syndrome, dominant type, is related to multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects and chondrodysplasia with joint dislocations, gpapp type. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Focal adhesion and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include bone, spinal cord and liver, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.

Genetics Home Reference : 26 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).

OMIM : 58 Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication (summary by Bicknell et al., 2007). (150250)

UniProtKB/Swiss-Prot : 76 Larsen syndrome: An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.

Wikipedia : 77 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Related Diseases for Larsen Syndrome

Diseases in the Larsen Syndrome family:

Larsen-Like Syndrome

Diseases related to Larsen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 32.0 B4GALT7 CHST3
2 chondrodysplasia with joint dislocations, gpapp type 12.7
3 multiple joint dislocations metaphyseal dysplasia 12.2
4 spondyloepiphyseal dysplasia with congenital joint dislocations 12.0
5 desbuquois dysplasia 1 11.5
6 intellectual developmental disorder with short stature, facial anomalies, and speech defects 11.4
7 joint disorders 11.4
8 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.3
9 duane retraction syndrome 3 with or without deafness 11.3
10 cutis laxa, autosomal recessive, type iiia 11.2
11 larsen-like syndrome 11.2
12 reunion island larsen-like syndrome 11.2
13 acromesomelic dysplasia, hunter-thompson type 11.2
14 pseudodiastrophic dysplasia 11.2
15 ehlers-danlos syndrome, musculocontractural type, 2 11.2
16 atelosteogenesis, type iii 11.1
17 bone dysplasia, lethal, holmgren type 11.1
18 atelosteogenesis, type i 11.0
19 boomerang dysplasia 11.0
20 multiple pterygium syndrome, lethal type 11.0
21 three m syndrome 1 11.0
22 neuropathy, hereditary sensory and autonomic, type vii 11.0
23 ehlers-danlos syndrome 11.0
24 spondyloepimetaphyseal dysplasia with multiple dislocations 11.0
25 papillomatosis, confluent and reticulated 10.4
26 malignant hyperthermia 10.1
27 pyruvate kinase deficiency of red cells 10.1
28 blood group system, landsteiner-wiener 10.1
29 alzheimer disease 10.0
30 hepatocellular carcinoma 10.0
31 neuroblastoma 1 10.0
32 arteriovenous fistula 10.0
33 arthropathy 10.0
34 dystonia 10.0
35 neutrophil migration 9.9
36 ovarian cancer 9.9
37 pancreatic cancer 9.9
38 insulin-like growth factor i 9.9
39 horns in sheep 9.9
40 salla disease 9.9
41 welander distal myopathy 9.9
42 cholangiocarcinoma 9.9
43 diabetes mellitus 9.9
44 liver disease 9.9
45 pain agnosia 9.9
46 osteomyelitis 9.9
47 intrahepatic cholangiocarcinoma 9.9
48 scrapie 9.9
49 argyria 9.9
50 arterial tortuosity syndrome 9.9

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



Diseases related to Larsen Syndrome

Symptoms & Phenotypes for Larsen Syndrome

Human phenotypes related to Larsen Syndrome:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 broad thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0011304
5 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
6 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
7 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
8 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
9 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
10 broad distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009836
11 short nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001799
12 large joint dislocations 60 33 hallmark (90%) Very frequent (99-80%) HP:0005008
13 accessory carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0004232
14 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
15 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
16 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
17 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
20 abnormality of the cardiovascular system 60 33 occasional (7.5%) Occasional (29-5%) HP:0001626
21 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
22 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
23 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
24 vertebral segmentation defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0003422
25 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
26 abnormality of the cervical spine 60 33 occasional (7.5%) Occasional (29-5%) HP:0003319
27 laryngotracheomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008755
28 pectus excavatum 33 HP:0000767
29 frontal bossing 33 HP:0002007
30 corneal opacity 33 HP:0007957
31 pectus carinatum 33 HP:0000768
32 beaking of vertebral bodies 33 HP:0004568
33 intrauterine growth retardation 33 HP:0001511
34 atrial septal defect 33 HP:0001631
35 joint laxity 33 HP:0001388
36 talipes equinovarus 33 HP:0001762
37 hip dislocation 33 HP:0002827
38 elbow dislocation 33 HP:0003042
39 ventricular septal defect 33 HP:0001629
40 tracheal stenosis 33 HP:0002777
41 hypodontia 33 HP:0000668
42 spina bifida occulta 33 HP:0003298
43 tracheomalacia 33 HP:0002779
44 cleft upper lip 33 HP:0000204
45 hypoplastic cervical vertebrae 33 HP:0008434
46 short metacarpal 33 HP:0010049
47 knee dislocation 33 HP:0004976
48 short metatarsal 33 HP:0010743
49 talipes equinovalgus 33 HP:0001772
50 aortic aneurysm 33 HP:0004942

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
anterior corneal lens opacities

Skeletal Spine:
scoliosis
spina bifida occulta
cervical kyphosis
spondylolysis
cervical vertebrae hypoplasia
more
Head And Neck Face:
prominent forehead
flat face

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
joint laxity
dislocations of the elbows
dislocations of the wrists
dislocations of the knees
dysplastic epiphyseal centers

Respiratory Airways:
tracheal stenosis
tracheomalacia
bronchomalacia

Neurologic Central Nervous System:
spinal cord compression
mental retardation

Skeletal Hands:
short metacarpals
cylindric fingers
spatulate thumbs
supernumerary carpal bones
multiple carpal ossification centers

Skin Nails Hair Nails:
short nails

Growth Height:
short stature (final adult height less than 152cm)

Chest External Features:
pectus excavatum
pectus carinatum

Head And Neck Nose:
depressed nasal bridge

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Heart:
atrial septal defect
aortic dilatation
ventricular septal defect

Skeletal Feet:
talipes equinovarus
talipes equinovalgus
short metatarsals
supernumerary tarsal bones
delayed coalescence of calcaneal ossification centers

Head And Neck Teeth:
hypodontia

Skeletal Skull:
shallow orbits
flattened frontal bone
small skull base

Head And Neck Ears:
hearing loss, conductive
malformations of the auditory ossicles

Growth Other:
prenatal growth deficiency

Skeletal Pelvis:
dislocation of the hip

Clinical features from OMIM:

150250

GenomeRNAi Phenotypes related to Larsen Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.36 FLNB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.36 B4GALT7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.36 FLNB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.36 FLNB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 FLNB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.36 B4GALT7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.36 FLNB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 FLNB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.36 B4GALT7 FLNB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.36 B4GALT7

Drugs & Therapeutics for Larsen Syndrome

Search Clinical Trials , NIH Clinical Center for Larsen Syndrome

Cochrane evidence based reviews: joint dislocations

Genetic Tests for Larsen Syndrome

Genetic tests related to Larsen Syndrome:

# Genetic test Affiliating Genes
1 Larsen Syndrome, Dominant Type 30 FLNB
2 Larsen Syndrome 30

Anatomical Context for Larsen Syndrome

MalaCards organs/tissues related to Larsen Syndrome:

42
Bone, Spinal Cord, Liver, Prostate, Heart, Brain, Colon

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 114)
# Title Authors Year
1
A case study of atypical Larsen syndrome with absent hallmark joint dislocations. ( 30916490 )
2019
2
Structure-activity relationship of leucyladenylate sulfamate analogues as leucyl-tRNA synthetase (LRS)-targeting inhibitors of Mammalian target of rapamycin complex 1 (mTORC1). ( 30755350 )
2019
3
Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator. ( 30111500 )
2018
4
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. ( 30170566 )
2018
5
Discovery of novel leucyladenylate sulfamate surrogates as leucyl-tRNA synthetase (LRS)-targeted mammalian target of rapamycin complex 1 (mTORC1) inhibitors. ( 30041947 )
2018
6
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. ( 27502344 )
2017
7
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. ( 28145583 )
2017
8
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. ( 28475863 )
2017
9
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. ( 28639312 )
2017
10
Otologic manifestations of Larsen syndrome. ( 28964299 )
2017
11
The psychological impact of external fixation using the Ilizarov or Orthofix LRS method to treat tibial osteomyelitis with a bone defect. ( 29122280 )
2017
12
Outcomes of post-traumatic tibial osteomyelitis treated with an Orthofix LRS versus an Ilizarov external fixator. ( 28522207 )
2017
13
Discovery of simplified leucyladenylate sulfamates as novel leucyl-tRNA synthetase (LRS)-targeted mammalian target of rapamycin complex 1 (mTORC1) inhibitors. ( 28625715 )
2017
14
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. ( 27048506 )
2016
15
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. ( 27217658 )
2016
16
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. ( 27275063 )
2016
17
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. ( 28144369 )
2016
18
Discovery of Leucyladenylate Sulfamates as Novel Leucyl-tRNA Synthetase (LRS)-Targeted Mammalian Target of Rapamycin Complex 1 (mTORC1) Inhibitors. ( 27933890 )
2016
19
Outcomes following femoral lengthening: An initial comparison of the Precice intramedullary lengthening nail and the LRS external fixator monorail system. ( 27694593 )
2016
20
Discovery of (S)-4-isobutyloxazolidin-2-one as a novel leucyl-tRNA synthetase (LRS)-targeted mTORC1 inhibitor. ( 27209231 )
2016
21
Evaluating 3D printing to solve the sample-to-device interface for LRS and POC diagnostics: example of an interlock meter-mix device for metering and lysing clinical urine samples. ( 27122199 )
2016
22
Presumed Larsen syndrome in a child: a case with a 12-year follow-up. ( 25536406 )
2015
23
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis. ( 26285895 )
2015
24
Investigation of LRS dependence on the retention of HRS in CBRAM. ( 25852358 )
2015
25
Chemical characterization of unburned carbon in coal fly ashes by use of TPD/TPO and LRS methods. ( 25794300 )
2015
26
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )
2014
27
Pneumoperitoneum in a patient with Larsen syndrome. ( 24221813 )
2014
28
Dural ectasia in a child with Larsen syndrome. ( 24674893 )
2014
29
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. ( 24820731 )
2014
30
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. ( 23080426 )
2013
31
Malignant hyperthermia-like episode in a child with Larsen syndrome. ( 22412793 )
2012
32
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. ( 22552677 )
2012
33
Ossicular malposition in Larsen syndrome: a case report. ( 24968394 )
2012
34
The management of knee dislocation in a child with Larsen syndrome. ( 21876991 )
2011
35
The effects of lactated Ringer's solution (LRS) or LRS and 6% hetastarch on the colloid osmotic pressure, total protein and osmolality in healthy horses under general anesthesia. ( 21627758 )
2011
36
Antenatal diagnosis of Larsen syndrome. ( 20589471 )
2010
37
Larsen syndrome: a review of the literature and case report. ( 21044106 )
2010
38
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. ( 19085972 )
2009
39
Malignant hyperthermia in Larsen syndrome. ( 19691711 )
2009
40
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
41
Larsen syndrome and malignant hyperthermia. ( 20017874 )
2009
42
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. ( 18322662 )
2008
43
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. ( 18513679 )
2008
44
Ulnar nerve palsy in a child with Larsen syndrome. ( 18352815 )
2008
45
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. ( 18377309 )
2008
46
Larsen syndrome. ( 18820390 )
2008
47
Compensatory interactions between Sir3p and the nucleosomal LRS surface imply their direct interaction. ( 19079580 )
2008
48
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. ( 16801345 )
2007
49
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. ( 17202879 )
2007
50
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. ( 16450278 )
2006

Variations for Larsen Syndrome

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

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 FLNB p.Phe161Cys VAR_033069 rs80356506
2 FLNB p.Gly168Ser VAR_033070 rs80356504
3 FLNB p.Glu227Lys VAR_033075 rs80356508
4 FLNB p.Leu234Val VAR_033076 rs80356507
5 FLNB p.Gly361Ser VAR_033078 rs80356509
6 FLNB p.Gly363Glu VAR_033079 rs80356510
7 FLNB p.Leu1431Arg VAR_033081 rs80356511
8 FLNB p.Gly1586Arg VAR_033083 rs80356513
9 FLNB p.Val1592Asp VAR_033084 rs80356514
10 FLNB p.Pro1603Leu VAR_033085 rs80356515
11 FLNB p.Gly1691Ser VAR_033086 rs80356503
12 FLNB p.Gly1834Arg VAR_033087 rs80356516

ClinVar genetic disease variations for Larsen Syndrome:

6 (show top 50) (show all 320)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.482T> G (p.Phe161Cys) single nucleotide variant Pathogenic rs80356506 GRCh37 Chromosome 3, 58062962: 58062962
2 FLNB NM_001457.3(FLNB): c.482T> G (p.Phe161Cys) single nucleotide variant Pathogenic rs80356506 GRCh38 Chromosome 3, 58077235: 58077235
3 FLNB NM_001457.3(FLNB): c.4756G> A (p.Gly1586Arg) single nucleotide variant Pathogenic rs80356513 GRCh37 Chromosome 3, 58121790: 58121790
4 FLNB NM_001457.3(FLNB): c.4756G> A (p.Gly1586Arg) single nucleotide variant Pathogenic rs80356513 GRCh38 Chromosome 3, 58136063: 58136063
5 FLNB NM_001457.3(FLNB): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs80356508 GRCh37 Chromosome 3, 58067395: 58067395
6 FLNB NM_001457.3(FLNB): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs80356508 GRCh38 Chromosome 3, 58081668: 58081668
7 FLNB NM_001457.3(FLNB): c.5071G> A (p.Gly1691Ser) single nucleotide variant Pathogenic rs80356503 GRCh37 Chromosome 3, 58124218: 58124218
8 FLNB NM_001457.3(FLNB): c.5071G> A (p.Gly1691Ser) single nucleotide variant Pathogenic rs80356503 GRCh38 Chromosome 3, 58138491: 58138491
9 FLNB NM_001457.3(FLNB): c.1081G> A (p.Gly361Ser) single nucleotide variant Pathogenic rs80356509 GRCh37 Chromosome 3, 58083638: 58083638
10 FLNB NM_001457.3(FLNB): c.1081G> A (p.Gly361Ser) single nucleotide variant Pathogenic rs80356509 GRCh38 Chromosome 3, 58097911: 58097911
11 FLNB NM_001457.3(FLNB): c.1088G> A (p.Gly363Glu) single nucleotide variant Pathogenic rs80356510 GRCh37 Chromosome 3, 58083645: 58083645
12 FLNB NM_001457.3(FLNB): c.1088G> A (p.Gly363Glu) single nucleotide variant Pathogenic rs80356510 GRCh38 Chromosome 3, 58097918: 58097918
13 FLNB NM_001457.3(FLNB): c.4292T> G (p.Leu1431Arg) single nucleotide variant Pathogenic rs80356511 GRCh37 Chromosome 3, 58116537: 58116537
14 FLNB NM_001457.3(FLNB): c.4292T> G (p.Leu1431Arg) single nucleotide variant Pathogenic rs80356511 GRCh38 Chromosome 3, 58130810: 58130810
15 FLNB NM_001457.3(FLNB): c.4711_4713delAAT (p.Asn1571del) deletion Pathogenic rs80356512 GRCh37 Chromosome 3, 58121745: 58121747
16 FLNB NM_001457.3(FLNB): c.4711_4713delAAT (p.Asn1571del) deletion Pathogenic rs80356512 GRCh38 Chromosome 3, 58136018: 58136020
17 FLNB NM_001457.3(FLNB): c.4775T> A (p.Val1592Asp) single nucleotide variant Pathogenic rs80356514 GRCh37 Chromosome 3, 58121809: 58121809
18 FLNB NM_001457.3(FLNB): c.4775T> A (p.Val1592Asp) single nucleotide variant Pathogenic rs80356514 GRCh38 Chromosome 3, 58136082: 58136082
19 FLNB NM_001457.3(FLNB): c.4808C> T (p.Pro1603Leu) single nucleotide variant Pathogenic rs80356515 GRCh37 Chromosome 3, 58121842: 58121842
20 FLNB NM_001457.3(FLNB): c.4808C> T (p.Pro1603Leu) single nucleotide variant Pathogenic rs80356515 GRCh38 Chromosome 3, 58136115: 58136115
21 FLNB NM_001457.3(FLNB): c.5500G> A (p.Gly1834Arg) single nucleotide variant Pathogenic rs80356516 GRCh37 Chromosome 3, 58131722: 58131722
22 FLNB NM_001457.3(FLNB): c.5500G> A (p.Gly1834Arg) single nucleotide variant Pathogenic rs80356516 GRCh38 Chromosome 3, 58145995: 58145995
23 FLNB NM_001457.3(FLNB): c.700C> G (p.Leu234Val) single nucleotide variant Pathogenic rs80356507 GRCh37 Chromosome 3, 58067416: 58067416
24 FLNB NM_001457.3(FLNB): c.700C> G (p.Leu234Val) single nucleotide variant Pathogenic rs80356507 GRCh38 Chromosome 3, 58081689: 58081689
25 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh37 Chromosome 10, 73767206: 73767206
26 CHST3 NM_004273.4(CHST3): c.417C> T (p.Ala139=) single nucleotide variant Conflicting interpretations of pathogenicity rs144287889 GRCh38 Chromosome 10, 72007448: 72007448
27 FLNB NM_001164317.1(FLNB): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs145036794 GRCh38 Chromosome 3, 58094856: 58094856
28 FLNB NM_001164317.1(FLNB): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs145036794 GRCh37 Chromosome 3, 58080583: 58080583
29 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh37 Chromosome 10, 73768136: 73768136
30 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh38 Chromosome 10, 72008378: 72008378
31 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh37 Chromosome 10, 73768236: 73768236
32 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh38 Chromosome 10, 72008478: 72008478
33 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh37 Chromosome 10, 73767350: 73767350
34 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh38 Chromosome 10, 72007592: 72007592
35 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh37 Chromosome 10, 73767859: 73767859
36 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh38 Chromosome 10, 72008101: 72008101
37 FLNB NM_001457.3(FLNB): c.4391G> C (p.Gly1464Ala) single nucleotide variant Uncertain significance rs886044175 GRCh37 Chromosome 3, 58118535: 58118535
38 FLNB NM_001457.3(FLNB): c.4391G> C (p.Gly1464Ala) single nucleotide variant Uncertain significance rs886044175 GRCh38 Chromosome 3, 58132808: 58132808
39 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs538907004 GRCh37 Chromosome 10, 73724290: 73724290
40 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs538907004 GRCh38 Chromosome 10, 71964532: 71964532
41 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh37 Chromosome 10, 73767183: 73767183
42 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh38 Chromosome 10, 72007425: 72007425
43 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh38 Chromosome 10, 72008761: 72008761
44 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh37 Chromosome 10, 73768519: 73768519
45 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh38 Chromosome 10, 72008994: 72008994
46 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh37 Chromosome 10, 73768752: 73768752
47 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh38 Chromosome 10, 72009234: 72009234
48 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh37 Chromosome 10, 73768992: 73768992
49 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh38 Chromosome 10, 72009283: 72009283
50 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh37 Chromosome 10, 73769041: 73769041

Expression for Larsen Syndrome

Search GEO for disease gene expression data for Larsen Syndrome.

Pathways for Larsen Syndrome

Pathways related to Larsen Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510

GO Terms for Larsen Syndrome

Cellular components related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.8 B4GALT7 CHST3 COL7A1

Biological processes related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 8.62 B4GALT7 CHST3

Sources for Larsen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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