MCID: LRS001
MIFTS: 46

Larsen Syndrome

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

Aliases & Classifications for Larsen Syndrome

MalaCards integrated aliases for Larsen Syndrome:

Name: Larsen Syndrome 57 12 76 53 25 75 37 29 13 6 15 40 73
Larsen Syndrome, Dominant Type 76 29 6 73
Lrs 57 53 25 75
Autosomal Dominant Larsen Syndrome 53 59
Dominant Larsen Syndrome 12
Joint Dislocations 44
Larsens Syndrome 55

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
larsen syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Larsen Syndrome

NIH Rare Diseases : 53 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 reunion island larsen syndrome. 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 brain, and related phenotypes are malar flattening and hypertelorism

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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).

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

Wikipedia : 76 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 all 45)
# Related Disease Score Top Affiliating Genes
1 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 31.3 B4GALT7 CHST3
2 reunion island larsen syndrome 11.9
3 spondyloepiphyseal dysplasia with congenital joint dislocations 11.6
4 desbuquois dysplasia 1 11.3
5 duane retraction syndrome 3 with or without deafness 11.1
6 atelosteogenesis, type iii 10.9
7 bone dysplasia, lethal, holmgren type 10.9
8 cervicitis 10.2
9 pyruvate kinase deficiency of red cells 10.1
10 malignant hyperthermia 10.0
11 hepatitis 9.9
12 aging 9.9
13 scrapie 9.9
14 bronchomalacia 9.7
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
16 craniosynostosis 9.7
17 hydrocephalus 9.7
18 scoliosis 9.7
19 tracheomalacia 9.7
20 cardiac arrest 9.7
21 oligohydramnios 9.7
22 quadriplegia 9.7
23 dysostosis 9.7
24 mediastinitis 9.7
25 1q duplications 9.7
26 congenital hydrocephalus 9.7
27 dwarfism 9.7
28 skeletal dysplasias 9.7
29 aneurysm 9.7
30 trisomy 1q 9.7
31 congenital knee dislocation 9.7
32 hepatocellular carcinoma 9.7
33 creutzfeldt-jakob disease 9.7
34 small cell cancer of the lung 9.7
35 lung cancer 9.7
36 cholangiocarcinoma 9.7
37 diabetes mellitus 9.7
38 hemolytic anemia 9.7
39 insulinoma 9.7
40 spondylosis 9.7
41 dermatitis 9.7
42 adenocarcinoma 9.7
43 astrocytoma 9.7
44 thyroiditis 9.7
45 peritonitis 9.7

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



Diseases related to Larsen Syndrome

Symptoms & Phenotypes for Larsen Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Larsen Syndrome:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
4 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
9 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
10 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
11 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
12 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
13 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
15 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
17 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
18 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
19 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
20 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
21 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
22 abnormality of the cervical spine 59 32 occasional (7.5%) Occasional (29-5%) HP:0003319
23 broad distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009836
24 short nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001799
25 accessory carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0004232
26 large joint dislocations 59 32 hallmark (90%) Very frequent (99-80%) HP:0005008
27 laryngotracheomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008755
28 pectus excavatum 32 HP:0000767
29 frontal bossing 32 HP:0002007
30 corneal opacity 32 HP:0007957
31 pectus carinatum 32 HP:0000768
32 beaking of vertebral bodies 32 HP:0004568
33 intrauterine growth retardation 32 HP:0001511
34 atrial septal defect 32 HP:0001631
35 hip dislocation 32 HP:0002827
36 joint laxity 32 HP:0001388
37 elbow dislocation 32 HP:0003042
38 ventricular septal defect 32 HP:0001629
39 talipes equinovarus 32 HP:0001762
40 tracheal stenosis 32 HP:0002777
41 hypodontia 32 HP:0000668
42 spina bifida occulta 32 HP:0003298
43 tracheomalacia 32 HP:0002779
44 cleft upper lip 32 HP:0000204
45 hypoplastic cervical vertebrae 32 HP:0008434
46 short metacarpal 32 HP:0010049
47 short metatarsal 32 HP:0010743
48 talipes equinovalgus 32 HP:0001772
49 spinal cord compression 32 HP:0002176
50 aortic aneurysm 32 HP:0004942

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

26
# 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 29 FLNB
2 Larsen Syndrome 29

Anatomical Context for Larsen Syndrome

MalaCards organs/tissues related to Larsen Syndrome:

41
Bone, Spinal Cord, Brain

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 87)
# Title Authors Year
1
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. ( 28145583 )
2017
2
Otologic manifestations of Larsen syndrome. ( 28964299 )
2017
3
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
4
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. ( 28475863 )
2017
5
EP10.44: Prenatal diagnosis of Larsen syndrome in a twin pregnancy. ( 27645408 )
2016
6
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. ( 27502344 )
2016
7
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. ( 27275063 )
2016
8
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. ( 27048506 )
2016
9
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. ( 27217658 )
2016
10
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. ( 28144369 )
2016
11
Presumed Larsen syndrome in a child: a case with a 12-year follow-up. ( 25536406 )
2015
12
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis. ( 26285895 )
2015
13
Dural ectasia in a child with Larsen syndrome. ( 24674893 )
2014
14
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )
2014
15
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. ( 24820731 )
2014
16
Pneumoperitoneum in a patient with Larsen syndrome. ( 24221813 )
2013
17
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. ( 23080426 )
2013
18
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. ( 22552677 )
2012
19
Malignant hyperthermia-like episode in a child with Larsen syndrome. ( 22412793 )
2012
20
Ossicular malposition in Larsen syndrome: a case report. ( 24968394 )
2012
21
The management of knee dislocation in a child with Larsen syndrome. ( 21876991 )
2011
22
Antenatal diagnosis of Larsen syndrome. ( 20589471 )
2010
23
Larsen syndrome: a review of the literature and case report. ( 21044106 )
2010
24
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
25
Malignant hyperthermia in Larsen syndrome. ( 19691711 )
2009
26
Larsen syndrome and malignant hyperthermia. ( 20017874 )
2009
27
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. ( 19085972 )
2009
28
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. ( 18377309 )
2008
29
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. ( 18513679 )
2008
30
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. ( 18322662 )
2008
31
Ulnar nerve palsy in a child with Larsen syndrome. ( 18352815 )
2008
32
Larsen syndrome. ( 18820390 )
2008
33
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. ( 16801345 )
2007
34
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. ( 17202879 )
2007
35
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. ( 16715218 )
2006
36
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. ( 16648737 )
2006
37
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. ( 16450278 )
2006
38
Aneurysm of the ductus arteriosus in a patient with Larsen syndrome. ( 17006654 )
2006
39
Mutations responsible for Larsen syndrome cluster in the FLNB protein. ( 16648377 )
2006
40
Larsen syndrome--lethal variety. ( 16388157 )
2005
41
Long tortuous aorta in a child with Larsen syndrome. ( 15776121 )
2005
42
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. ( 15385022 )
2004
43
Sevoflurane for general anaesthetic management in a patient with Larsen syndrome. ( 14962340 )
2004
44
Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. ( 15229923 )
2004
45
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. ( 12725593 )
2003
46
General anaesthesia in a child with Larsen syndrome. ( 12712791 )
2003
47
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. ( 14745669 )
2003
48
Larsen syndrome and its anaesthetic considerations. ( 12358662 )
2002
49
Larsen syndrome associated with severe congenital hydrocephalus. ( 11837607 )
2001
50
Obstetric anesthetic management of a parturient with Larsen syndrome and short stature. ( 11323359 )
2001

Variations for Larsen Syndrome

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

75 (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 314)
# 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 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh37 Chromosome 10, 73768136: 73768136
28 CHST3 NM_004273.4(CHST3): c.1347C> T (p.Arg449=) single nucleotide variant Conflicting interpretations of pathogenicity rs200249458 GRCh38 Chromosome 10, 72008378: 72008378
29 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh37 Chromosome 10, 73768236: 73768236
30 CHST3 NM_004273.4(CHST3): c.*7C> T single nucleotide variant Benign/Likely benign rs202242499 GRCh38 Chromosome 10, 72008478: 72008478
31 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh37 Chromosome 10, 73767350: 73767350
32 CHST3 NM_004273.4(CHST3): c.561G> C (p.Val187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147804585 GRCh38 Chromosome 10, 72007592: 72007592
33 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh37 Chromosome 10, 73767859: 73767859
34 CHST3 NM_004273.4(CHST3): c.1070G> A (p.Arg357Gln) single nucleotide variant Benign rs3740129 GRCh38 Chromosome 10, 72008101: 72008101
35 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs886047157 GRCh37 Chromosome 10, 73724290: 73724290
36 CHST3 NM_004273.4(CHST3): c.-270delC deletion Likely benign rs886047157 GRCh38 Chromosome 10, 71964532: 71964532
37 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh37 Chromosome 10, 73767183: 73767183
38 CHST3 NM_004273.4(CHST3): c.394C> G (p.Arg132Gly) single nucleotide variant Uncertain significance rs766145797 GRCh38 Chromosome 10, 72007425: 72007425
39 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh38 Chromosome 10, 72008761: 72008761
40 CHST3 NM_004273.4(CHST3): c.*290G> C single nucleotide variant Uncertain significance rs184330297 GRCh37 Chromosome 10, 73768519: 73768519
41 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh38 Chromosome 10, 72008994: 72008994
42 CHST3 NM_004273.4(CHST3): c.*523A> G single nucleotide variant Uncertain significance rs189173490 GRCh37 Chromosome 10, 73768752: 73768752
43 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh38 Chromosome 10, 72009234: 72009234
44 CHST3 NM_004273.4(CHST3): c.*763C> A single nucleotide variant Benign rs4148941 GRCh37 Chromosome 10, 73768992: 73768992
45 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh38 Chromosome 10, 72009283: 72009283
46 CHST3 NM_004273.4(CHST3): c.*812G> A single nucleotide variant Uncertain significance rs886047162 GRCh37 Chromosome 10, 73769041: 73769041
47 CHST3 NM_004273.4(CHST3): c.*922C> T single nucleotide variant Uncertain significance rs886047164 GRCh37 Chromosome 10, 73769151: 73769151
48 CHST3 NM_004273.4(CHST3): c.*922C> T single nucleotide variant Uncertain significance rs886047164 GRCh38 Chromosome 10, 72009393: 72009393
49 CHST3 NM_004273.4(CHST3): c.*1088A> G single nucleotide variant Uncertain significance rs115617050 GRCh37 Chromosome 10, 73769317: 73769317
50 CHST3 NM_004273.4(CHST3): c.*1088A> G single nucleotide variant Uncertain significance rs115617050 GRCh38 Chromosome 10, 72009559: 72009559

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....