LRS
MCID: LRS001
MIFTS: 56

Larsen Syndrome (LRS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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Aliases & Classifications for Larsen Syndrome

MalaCards integrated aliases for Larsen Syndrome:

Name: Larsen Syndrome 57 11 19 42 58 75 73 28 12 5 43 14 38 71
Lrs 57 19 42 73
Larsen Syndrome, Dominant Type 75 71
Autosomal Dominant Larsen Syndrome 19
Dominant Larsen Syndrome 11
Larsens Syndrome 53

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/1000000 (France, France, Europe, Europe) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
intrafamilial variation
autosomal recessive inheritance has also been suggested
joint dislocations become less frequent with age


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Larsen Syndrome

MedlinePlus Genetics: 42 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 dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning feet (clubfeet), are also common. Affected individuals 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).Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles).Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can also have abnormal curvature of the spine (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected.

MalaCards based summary: Larsen Syndrome, also known as lrs, is related to desbuquois dysplasia 1 and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Glycosaminoglycan metabolism. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are depressed nasal bridge and hypertelorism

GARD: 19 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 genetic changes in the FLNB gene.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.

Disease Ontology: 11 A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.

Wikipedia: 75 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 177)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 1 32.6 XYLT1 CANT1
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 32.5 B4GALT7 B3GAT3
3 spondyloepiphyseal dysplasia with congenital joint dislocations 31.6 XYLT1 TGDS SLC35D1 SLC26A2 MIR3922 FLNB
4 congenital joint dislocations 31.1 CHST3 BPNT2
5 clubfoot 30.4 SLC26A2 FLNB COL2A1 CHST3 CHST14
6 cleft palate, isolated 30.4 TGDS FLNB FLNA FGFR3 COL2A1
7 scoliosis 30.3 XYLT1 TRIP11 FLNB FGFR3 COL2A1 CANT1
8 connective tissue disease 30.3 TRIP11 SLC26A2 LCOR FLNB FGFR3 COL2A1
9 ehlers-danlos syndrome, spondylodysplastic type, 1 30.2 SLC35D1 MIR3922 B4GALT7
10 loeys-dietz syndrome 30.2 FLNA CHST14 B4GALT7
11 orthostatic intolerance 30.1 FLNC FLNA B3GAT3
12 dysostosis 29.9 TGDS FGFR3 CHST3
13 boomerang dysplasia 29.7 TRIP11 SLC35D1 FLNC FLNB FLNA B4GALT7
14 atelosteogenesis 29.6 SLC35D1 SLC26A2 MIR3922 FLNC FLNB FLNA
15 osteochondrodysplasia 29.5 XYLT1 TRIP11 SLC35D1 SLC26A2 FLNB FLNA
16 bone dysplasia, lethal, holmgren type 11.2
17 otopalatodigital syndrome, type i 10.4 FLNB FLNA
18 shox-related short stature 10.4 SLC26A2 FLNB
19 chiari malformation 10.4 FGFR3 COL7A1
20 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
21 flnb disorders 10.3
22 hemifacial hyperplasia 10.3 FLNC FGFR3
23 pseudodiastrophic dysplasia 10.3 SLC26A2 CANT1 B3GAT3
24 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.3 XYLT1 B4GALT7 B3GAT3
25 pectus carinatum 10.3 GZF1 COL2A1
26 tricuspid valve prolapse 10.3 FLNA CHST14
27 chondrodysplasia with joint dislocations, gpapp type 10.3 MIR3922 BPNT2
28 radioulnar synostosis 10.3 XYLT1 B4GALT7 B3GAT3
29 primary bone dysplasia 10.3 FGFR3 COL2A1
30 ehlers-danlos syndrome, spondylodysplastic type, 2 10.3 MIR3922 B4GALT7 B3GAT3
31 ehlers-danlos syndrome, musculocontractural type, 1 10.3 MIR3922 CHST3 CHST14
32 otopalatodigital syndrome, type ii 10.3 FLNC FLNB FLNA
33 scheuermann disease 10.3 FLNB COL2A1
34 ehlers-danlos syndrome, musculocontractural type, 2 10.3 MIR3922 CHST14
35 terminal osseous dysplasia 10.3 FLNC FLNB FLNA
36 hypermobility syndrome 10.3 CHST14 B4GALT7
37 otopalatodigital syndrome spectrum disorder 10.3 FLNC FLNB FLNA
38 myopathy, myofibrillar, 5 10.2 FLNC FLNB FLNA
39 melnick-needles syndrome 10.2 FLNC FLNB FLNA
40 epiphyseal dysplasia, multiple, 4 10.2 SLC26A2 MIR3922
41 frontometaphyseal dysplasia 10.2 FLNC FLNB FLNA
42 spondyloperipheral dysplasia 10.2 SLC35D1 COL2A1
43 stickler syndrome, type i 10.2 FLNA COL2A1 B4GALT7
44 collagen disease 10.2 COL2A1 CHST14 B4GALT7
45 multiple epiphyseal dysplasia 10.2 SLC26A2 COL2A1 CANT1
46 hypochondrogenesis 10.2 SLC26A2 COL2A1
47 spondyloepimetaphyseal dysplasia with joint laxity 10.2 XYLT1 CHST14 B4GALT7 B3GAT3
48 spondylometaepiphyseal dysplasia, short limb-hand type 10.2 TRIP11 SLC35D1
49 kniest dysplasia 10.2 SLC35D1 SLC26A2 COL2A1
50 treacher collins syndrome 1 10.2 FLNB COL7A1 CHST14

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:

58 30 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005280
2 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
3 broad thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011304
4 prominent forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011220
5 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012368
6 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
7 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
8 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
9 short distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009882
10 short nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001799
11 broad distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009836
12 large joint dislocations 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005008
13 accessory carpal bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0004232
14 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
15 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
16 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002093
17 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
18 abnormality of the cardiovascular system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001626
19 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
20 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
21 conductive hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000405
22 vertebral segmentation defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003422
23 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001363
24 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
25 abnormality of the cervical spine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003319
26 laryngotracheomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008755
27 abnormal epiphysis morphology 30 Occasional (7.5%) HP:0005930
28 frontal bossing 30 HP:0002007
29 corneal opacity 30 HP:0007957
30 pectus carinatum 30 HP:0000768
31 beaking of vertebral bodies 30 HP:0004568
32 intrauterine growth retardation 30 HP:0001511
33 pectus excavatum 30 HP:0000767
34 atrial septal defect 30 HP:0001631
35 joint laxity 30 HP:0001388
36 talipes equinovarus 30 HP:0001762
37 cleft upper lip 30 HP:0000204
38 hip dislocation 30 HP:0002827
39 abnormality of epiphysis morphology 58 Occasional (29-5%)
40 ventricular septal defect 30 HP:0001629
41 hypodontia 30 HP:0000668
42 spina bifida occulta 30 HP:0003298
43 elbow dislocation 30 HP:0003042
44 hypoplastic cervical vertebrae 30 HP:0008434
45 tracheomalacia 30 HP:0002779
46 short metacarpal 30 HP:0010049
47 tracheal stenosis 30 HP:0002777
48 aortic aneurysm 30 HP:0004942
49 cervical kyphosis 30 HP:0002947
50 short metatarsal 30 HP:0010743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
spina bifida occulta
cervical kyphosis
spondylolysis
cervical vertebrae hypoplasia
more
Head And Neck Eyes:
hypertelorism
anterior corneal lens opacities

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

Head And Neck Teeth:
hypodontia

Neurologic Central Nervous System:
spinal cord compression
mental retardation

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

Skin Nails Hair Nails:
short nails

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

Head And Neck Nose:
depressed nasal bridge

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
aortic dilatation

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

Respiratory Airways:
tracheomalacia
tracheal stenosis
bronchomalacia

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Larsen Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 BPNT2 CANT1 CHST14 COL2A1 COL7A1 FGFR3
2 limbs/digits/tail MP:0005371 10.21 B3GAT3 BPNT2 CANT1 CHST14 COL2A1 COL7A1
3 craniofacial MP:0005382 10.1 BPNT2 CHST14 COL2A1 COL7A1 FGFR3 FLNA
4 digestive/alimentary MP:0005381 10.02 BPNT2 COL2A1 COL7A1 FGFR3 FLNA SLC26A2
5 cellular MP:0005384 10 B3GAT3 CANT1 CHST14 CHST3 COL2A1 FGFR3
6 skeleton MP:0005390 9.83 B3GAT3 BPNT2 CANT1 CHST14 CHST3 COL2A1
7 respiratory system MP:0005388 9.7 BPNT2 COL2A1 FGFR3 FLNA FLNB FLNC
8 mortality/aging MP:0010768 9.53 B3GAT3 BPNT2 CANT1 CHST14 COL2A1 COL7A1

Drugs & Therapeutics for Larsen Syndrome

Search Clinical Trials, NIH Clinical Center for Larsen Syndrome

Cochrane evidence based reviews: larsen syndrome

Genetic Tests for Larsen Syndrome

Genetic tests related to Larsen Syndrome:

# Genetic test Affiliating Genes
1 Larsen Syndrome 28 FLNB

Anatomical Context for Larsen Syndrome

Organs/tissues related to Larsen Syndrome:

MalaCards : Spinal Cord, Bone, Kidney, Heart, Trachea, Tongue, Skin
ODiseA: Respiratory System-Trachea, Respiratory System

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 168)
# Title Authors PMID Year
1
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 53 62 57 5
16801345 2007
2
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 62 57 5
14991055 2004
3
Mutations responsible for Larsen syndrome cluster in the FLNB protein. 53 62 5
16648377 2006
4
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. 62 57
12725593 2003
5
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism. 62 57
11045584 2000
6
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. 62 57
10735637 2000
7
Cervical kyphosis in patients who have Larsen syndrome. 62 57
8609132 1996
8
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. 62 57
7485161 1995
9
A case of Larsen syndrome with severe cervical malformations. 62 57
7917129 1994
10
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. 62 57
8213905 1993
11
Mixed hearing loss in Larsen syndrome. 62 57
3378369 1988
12
Oral and craniofacial morphology of a patient with Larsen syndrome. 62 57
3793859 1986
13
Separating Larsen syndrome from the "arthrogryposis basket". 62 57
7328098 1981
14
The Larsen syndrome and glial proliferation in the brain. 62 57
899784 1977
15
Larsen's syndrome: clinical and genetic aspects. 57
7205200 1980
16
Larsen's syndrome. Report of three cases in the one family, mother and two offspring. 57
735785 1978
17
Larsen's syndrome;. 57
1112073 1975
18
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. 57
5539773 1971
19
Autosomal dominant inheritance in Larsen's syndrome. 57
5116594 1971
20
Multiple congenital dislocations associated with characteristic facial abnormality. 57
14779259 1950
21
A report on four cases of congenital genu recurvatum occurring in one family. 57
20247238 1947
22
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. 53 62
17360453 2007
23
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. 53 62
16715218 2006
24
Mutations in FLNB cause boomerang dysplasia. 53 62
15994868 2005
25
Hybrid repair of a giant left subclavian artery aneurysm and arch coarctation in a patient with Larsen syndrome. 62
35751518 2022
26
Surgical management of cervical kyphosis in larsen syndrome. Case report and review of literature. 62
35198195 2022
27
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review. 62
34806157 2022
28
Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion. 62
34491919 2022
29
Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations. 62
35832491 2022
30
Severe Cervical Kyphosis and Spondyloptosis with Myelopathy in Larsen Syndrome: A Report of 2 Cases. 62
35102030 2021
31
Transcaval aortic valve implantation in a patient with Larsen syndrome: technical and anesthetic challenges. 62
34220027 2021
32
An orthodontic perspective on Larsen syndrome. 62
33691679 2021
33
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. 62
33009817 2021
34
50 Years Ago in TheJournalofPediatrics: 50 Years Ago Today: The Expanding Phenotype of Larsen Syndrome. 62
33487232 2021
35
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach. 62
33255942 2020
36
Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature. 62
33824557 2020
37
Knee arthrodesis for a congenital luxation with Larsen syndrome. 62
32487529 2020
38
A 360-Degree Surgical Approach for Correction of Cervical Kyphosis and Atlantoaxial Dislocation in the Case of Larsen Syndrome. 62
32140028 2020
39
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 62
31836586 2019
40
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 62
31356505 2019
41
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children. 62
31393310 2019
42
A case study of atypical Larsen syndrome with absent hallmark joint dislocations. 62
30916490 2019
43
FEVR findings in patients with Loeys-Dietz syndrome type II. 62
30406707 2018
44
Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator. 62
30111500 2018
45
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 62
30170566 2018
46
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 62
29566257 2018
47
Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. 62
29887954 2018
48
Otologic manifestations of Larsen syndrome. 62
28964299 2017
49
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. 62
28639312 2017
50
Filamin B: The next hotspot in skeletal research? 62
28739045 2017

Variations for Larsen Syndrome

ClinVar genetic disease variations for Larsen Syndrome:

5 (show top 50) (show all 178)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST3 NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del) MICROSAT Pathogenic
694680 rs1589510055 GRCh37: 10:73768042-73768044
GRCh38: 10:72008284-72008286
2 FLNB NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) SNV Pathogenic
694710 rs868820857 GRCh37: 3:58124075-58124075
GRCh38: 3:58138348-58138348
3 FLNB NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) SNV Pathogenic
6399 rs80356513 GRCh37: 3:58121790-58121790
GRCh38: 3:58136063-58136063
4 FLNB NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) SNV Pathogenic
6405 rs80356508 GRCh37: 3:58067395-58067395
GRCh38: 3:58081668-58081668
5 FLNB NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) SNV Pathogenic
6406 rs80356503 GRCh37: 3:58124218-58124218
GRCh38: 3:58138491-58138491
6 FLNB NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) SNV Pathogenic
21292 rs80356516 GRCh37: 3:58131722-58131722
GRCh38: 3:58145995-58145995
7 FLNB NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) SNV Pathogenic
6398 rs80356506 GRCh37: 3:58062962-58062962
GRCh38: 3:58077235-58077235
8 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
9 FLNB NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) SNV Likely Pathogenic
522782 rs1553704446 GRCh37: 3:58124219-58124219
GRCh38: 3:58138492-58138492
10 FLNB NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn) SNV Likely Pathogenic
1705102 GRCh37: 3:58120432-58120432
GRCh38: 3:58134705-58134705
11 FLNB NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) SNV Likely Pathogenic
801980 rs1356745912 GRCh37: 3:58120453-58120453
GRCh38: 3:58134726-58134726
12 FLNB NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp) SNV Likely Pathogenic
1683442 GRCh37: 3:58120378-58120378
GRCh38: 3:58134651-58134651
13 FLNB NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser) SNV Likely Pathogenic
1683438 GRCh37: 3:58120398-58120398
GRCh38: 3:58134671-58134671
14 FLNB NM_001457.4(FLNB):c.591T>A (p.Asn197Lys) SNV Likely Pathogenic
1683439 GRCh37: 3:58064493-58064493
GRCh38: 3:58078766-58078766
15 FLNB NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) SNV Uncertain Significance
1683441 GRCh37: 3:58116474-58116474
GRCh38: 3:58130747-58130747
16 CHST3 NM_004273.5(CHST3):c.*1256G>A SNV Uncertain Significance
300603 rs886047169 GRCh37: 10:73769485-73769485
GRCh38: 10:72009727-72009727
17 FLNB NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) SNV Uncertain Significance
986736 rs369949841 GRCh37: 3:58156403-58156403
GRCh38: 3:58170676-58170676
18 FLNB NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His) SNV Uncertain Significance
1342377 GRCh37: 3:58124206-58124206
GRCh38: 3:58138479-58138479
19 FLNB NM_001457.4(FLNB):c.1346-2A>G SNV Uncertain Significance
1342582 GRCh37: 3:58087928-58087928
GRCh38: 3:58102201-58102201
20 FLNB NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val) SNV Uncertain Significance
1527976 GRCh37: 3:58124114-58124114
GRCh38: 3:58138387-58138387
21 FLNB-AS1, FLNB NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) SNV Uncertain Significance
1679680 GRCh37: 3:58154319-58154319
GRCh38: 3:58168592-58168592
22 FLNB NM_001457.4(FLNB):c.199C>T (p.His67Tyr) SNV Uncertain Significance
587608 rs751371914 GRCh37: 3:57994490-57994490
GRCh38: 3:58008763-58008763
23 CHST3 NM_004273.5(CHST3):c.-265C>G SNV Uncertain Significance
300551 rs371903365 GRCh37: 10:73724295-73724295
GRCh38: 10:71964537-71964537
24 CHST3 NM_004273.5(CHST3):c.*4162A>G SNV Uncertain Significance
300665 rs551591119 GRCh37: 10:73772391-73772391
GRCh38: 10:72012633-72012633
25 CHST3 NM_004273.5(CHST3):c.*1399T>C SNV Uncertain Significance
300608 rs562405951 GRCh37: 10:73769628-73769628
GRCh38: 10:72009870-72009870
26 CHST3 NM_004273.5(CHST3):c.*4210T>C SNV Uncertain Significance
300666 rs559945769 GRCh37: 10:73772439-73772439
GRCh38: 10:72012681-72012681
27 CHST3 NM_004273.5(CHST3):c.*2178G>T SNV Uncertain Significance
300628 rs886047174 GRCh37: 10:73770407-73770407
GRCh38: 10:72010649-72010649
28 CHST3 NM_004273.5(CHST3):c.*1960G>A SNV Uncertain Significance
300623 rs886047172 GRCh37: 10:73770189-73770189
GRCh38: 10:72010431-72010431
29 CHST3 NM_004273.5(CHST3):c.*812G>A SNV Uncertain Significance
300583 rs886047162 GRCh37: 10:73769041-73769041
GRCh38: 10:72009283-72009283
30 CHST3 NM_004273.5(CHST3):c.*523A>G SNV Uncertain Significance
300579 rs189173490 GRCh37: 10:73768752-73768752
GRCh38: 10:72008994-72008994
31 CHST3 NM_004273.5(CHST3):c.*1088A>G SNV Uncertain Significance
300594 rs115617050 GRCh37: 10:73769317-73769317
GRCh38: 10:72009559-72009559
32 CHST3 NM_004273.5(CHST3):c.*1053A>T SNV Uncertain Significance
300593 rs886047166 GRCh37: 10:73769282-73769282
GRCh38: 10:72009524-72009524
33 CHST3 NM_004273.5(CHST3):c.*3306A>G SNV Uncertain Significance
300646 rs12250549 GRCh37: 10:73771535-73771535
GRCh38: 10:72011777-72011777
34 CHST3 NM_004273.5(CHST3):c.*3565A>G SNV Uncertain Significance
300651 rs151095465 GRCh37: 10:73771794-73771794
GRCh38: 10:72012036-72012036
35 CHST3 NM_004273.5(CHST3):c.*1184C>G SNV Uncertain Significance
300600 rs187692473 GRCh37: 10:73769413-73769413
GRCh38: 10:72009655-72009655
36 CHST3 NM_004273.5(CHST3):c.*544C>T SNV Uncertain Significance
300580 rs886047161 GRCh37: 10:73768773-73768773
GRCh38: 10:72009015-72009015
37 CHST3 NM_004273.5(CHST3):c.*410C>T SNV Uncertain Significance
300576 rs886047160 GRCh37: 10:73768639-73768639
GRCh38: 10:72008881-72008881
38 CHST3 NM_004273.5(CHST3):c.*1664G>C SNV Uncertain Significance
300617 rs375960396 GRCh37: 10:73769893-73769893
GRCh38: 10:72010135-72010135
39 CHST3 NM_004273.5(CHST3):c.*406G>A SNV Uncertain Significance
300575 rs80210009 GRCh37: 10:73768635-73768635
GRCh38: 10:72008877-72008877
40 CHST3 NM_004273.5(CHST3):c.*856C>G SNV Uncertain Significance
300586 rs186004202 GRCh37: 10:73769085-73769085
GRCh38: 10:72009327-72009327
41 CHST3 NM_004273.5(CHST3):c.*1621C>G SNV Uncertain Significance
300616 rs768478124 GRCh37: 10:73769850-73769850
GRCh38: 10:72010092-72010092
42 CHST3 NM_004273.5(CHST3):c.*4884C>G SNV Uncertain Significance
300685 rs886047185 GRCh37: 10:73773113-73773113
GRCh38: 10:72013355-72013355
43 CHST3 NM_004273.5(CHST3):c.*4498A>G SNV Uncertain Significance
300674 rs552578786 GRCh37: 10:73772727-73772727
GRCh38: 10:72012969-72012969
44 CHST3 NM_004273.5(CHST3):c.-108+6T>G SNV Uncertain Significance
300553 rs886047159 GRCh37: 10:73724458-73724458
GRCh38: 10:71964700-71964700
45 CHST3 NM_004273.5(CHST3):c.*3905C>T SNV Uncertain Significance
300659 rs886047181 GRCh37: 10:73772134-73772134
GRCh38: 10:72012376-72012376
46 CHST3 NM_004273.5(CHST3):c.543C>T (p.Ala181=) SNV Uncertain Significance
300561 rs778478785 GRCh37: 10:73767332-73767332
GRCh38: 10:72007574-72007574
47 CHST3 NM_004273.5(CHST3):c.*4869G>A SNV Uncertain Significance
300684 rs773240688 GRCh37: 10:73773098-73773098
GRCh38: 10:72013340-72013340
48 CHST3 NM_004273.5(CHST3):c.*4409C>T SNV Uncertain Significance
300669 rs754282055 GRCh37: 10:73772638-73772638
GRCh38: 10:72012880-72012880
49 CHST3 NM_004273.5(CHST3):c.886G>C (p.Val296Leu) SNV Uncertain Significance
300564 rs762224143 GRCh37: 10:73767675-73767675
GRCh38: 10:72007917-72007917
50 CHST3 NM_004273.5(CHST3):c.*2656A>G SNV Uncertain Significance
300634 rs886047177 GRCh37: 10:73770885-73770885
GRCh38: 10:72011127-72011127

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

73 (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

Expression for Larsen Syndrome

Search GEO for disease gene expression data for Larsen Syndrome.

Pathways for Larsen Syndrome



Pathways directly related to Larsen Syndrome:

# Pathway Source
1 Defective B3GAT3 causes JDSSDHD Reactome 66

Pathways related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 SLC35D1 SLC26A2 CHST3 CHST14 BPNT2
2
Show member pathways
12.57 XYLT1 SLC26A2 CHST3 CHST14 B4GALT7 B3GAT3
3
Show member pathways
12.28 SLC35D1 SLC26A2 CHST3 CHST14 B4GALT7 B3GAT3
4 12.09 FLNC FLNB FLNA FGFR3
5 11.96 FLNC FLNB FLNA COL2A1
6
Show member pathways
11.83 XYLT1 SLC26A2 CHST3 CHST14 B4GALT7 B3GAT3
7 11.74 FLNC FLNB FLNA
8 10.91 COL2A1 COL7A1 FGFR3
9 10.48 XYLT1 SLC26A2 CHST3 CHST14 CANT1 BPNT2

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 apparatus GO:0005794 9.55 XYLT1 TRIP11 SLC35D1 FGFR3 CHST3 CHST14
2 intracellular non-membrane-bounded organelle GO:0043232 9.13 FLNC FLNB FLNA

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 9.95 CHST3 CHST14 B4GALT7 B3GAT3
2 glycosaminoglycan metabolic process GO:0030203 9.67 XYLT1 B4GALT7
3 endochondral ossification GO:0001958 9.63 FGFR3 COL2A1 BPNT2
4 proteoglycan metabolic process GO:0006029 9.62 COL2A1 B4GALT7
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.56 XYLT1 B3GAT3
6 proteoglycan biosynthetic process GO:0030166 9.43 XYLT1 CANT1 B4GALT7
7 glycosaminoglycan biosynthetic process GO:0006024 9.1 XYLT1 B4GALT7 B3GAT3

Sources for Larsen Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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