MCID: LRS001
MIFTS: 53

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 54 12 50 24 25 71 29 13 14 69
Lrs 50 25 71
Autosomal Dominant Larsen Syndrome 50 56
Larsen Syndrome, Dominant Type 29 69
Dominant Larsen Syndrome 12
Joint Dislocations 42
Larsens Syndrome 52

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
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

OMIM : 54
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)

MalaCards based summary : Larsen Syndrome, also known as lrs, is related to larsen syndrome, autosomal recessive and reunion island larsen syndrome, and has symptoms including short stature, scoliosis and depressed nasal bridge. An important gene associated with Larsen Syndrome is FLNB (Filamin B). The drugs Simvastatin and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and skeleton

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 71 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 : 72 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 Larsen Syndrome, Autosomal Recessive

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

(show all 41)
id Related Disease Score Top Affiliating Genes
1 larsen syndrome, autosomal recessive 11.7
2 reunion island larsen syndrome 11.7
3 spondyloepiphyseal dysplasia with congenital joint dislocations 11.4
4 duane retraction syndrome 3 11.0
5 bone dysplasia, lethal, holmgren type 10.8
6 atelosteogenesis, type iii 10.8
7 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 10.7
8 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 10.7
9 cervicitis 10.1
10 pyruvate kinase deficiency 10.0
11 malignant hyperthermia 9.9
12 scrapie 9.8
13 hepatitis 9.8
14 craniosynostosis 9.7
15 mediastinitis 9.7
16 hydrocephalus 9.7
17 dwarfism 9.7
18 scoliosis 9.7
19 skeletal dysplasias 9.7
20 tracheomalacia 9.7
21 cardiac arrest 9.7
22 skeletal dysplasia 9.7
23 oligohydramnios 9.7
24 quadriplegia 9.7
25 aneurysm 9.7
26 dysostosis 9.7
27 congenital hydrocephalus 9.7
28 trisomy 1q 9.7
29 congenital knee dislocation 9.7
30 astrocytoma 9.6
31 hemolytic anemia 9.6
32 peritonitis 9.6
33 insulinoma 9.6
34 cerebral atrophy 9.6
35 spondylosis 9.6
36 colon adenocarcinoma 9.6
37 creutzfeldt-jakob disease 9.6
38 adenocarcinoma 9.6
39 fibrochondrogenesis 9.2 CANT1 CHST3 FLNB
40 myopathy with extrapyramidal signs 9.0 CANT1 CHST3 GALNS
41 atelosteogenesis, type i 7.4 B4GALT7 CANT1 CHST3 COL7A1 FLNB GALNS

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:

54

Skeletal- Spine:
scoliosis
spina bifida occulta
spondylolysis
cervical vertebrae hypoplasia
subluxation or fusion of the cervical vertebrae
more
Head And Neck- Nose:
depressed nasal bridge

Head And Neck- Eyes:
hypertelorism
anterior corneal lens opacities

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

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
aortic dilatation

Chest- External Features:
pectus carinatum
pectus excavatum

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

Head And Neck- Teeth:
hypodontia

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

Skeletal- Skull:
flattened frontal bone
small skull base
shallow orbits

Neurologic- Central Nervous System:
mental retardation
spinal cord compression

Head And Neck- Face:
prominent forehead
flat face

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

Head And Neck- Mouth:
cleft palate
cleft lip

Skin Nails & Hair- Nails:
short nails

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

Respiratory- Airways:
tracheomalacia
bronchomalacia
tracheal stenosis

Growth- Other:
prenatal growth deficiency

Skeletal- Pelvis:
dislocation of the hip


Clinical features from OMIM:

150250

Human phenotypes related to Larsen Syndrome:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 prominent forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0011220
5 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
9 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
10 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
11 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
12 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
13 craniosynostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001363
14 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
15 broad thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0011304
16 laryngotracheomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008755
17 abnormality of epiphysis morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0005930
18 abnormality of the cardiovascular system 56 32 occasional (7.5%) Occasional (29-5%) HP:0001626
19 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
20 vertebral segmentation defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0003422
21 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
22 abnormality of the cervical spine 56 32 occasional (7.5%) Occasional (29-5%) HP:0003319
23 broad distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009836
24 short nail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001799
25 accessory carpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0004232
26 large joint dislocations 56 32 hallmark (90%) Very frequent (99-80%) HP:0005008
27 brachydactyly 32 hallmark (90%) HP:0001156
28 joint laxity 32 HP:0001388
29 intrauterine growth retardation 32 HP:0001511
30 atrial septal defect 32 HP:0001631
31 hip dislocation 32 HP:0002827
32 frontal bossing 32 HP:0002007
33 pectus carinatum 32 HP:0000768
34 elbow dislocation 32 HP:0003042
35 talipes equinovarus 32 HP:0001762
36 ventricular septal defect 32 HP:0001629
37 knee dislocation 32 HP:0004976
38 pectus excavatum 32 HP:0000767
39 spina bifida occulta 32 HP:0003298
40 spinal cord compression 32 HP:0002176
41 hypodontia 32 HP:0000668
42 spondylolysis 32 HP:0003304
43 tracheomalacia 32 HP:0002779
44 bronchomalacia 32 HP:0002780
45 aortic dilatation 32 HP:0001724
46 tracheal stenosis 32 HP:0002777
47 shallow orbits 32 HP:0000586
48 cervical kyphosis 32 HP:0002947
49 spatulate thumbs 32 HP:0001222
50 multiple carpal ossification centers 32 HP:0006067

UMLS symptoms related to Larsen Syndrome:


joint laxity

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 FLNB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.5 FLNB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.5 FLNB GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 FLNB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.5 GALNS FLNB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.5 FLNB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.5 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 FLNB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.5 GALNS

MGI Mouse Phenotypes related to Larsen Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 CHST3 COL7A1 FLNB GALNS

Drugs & Therapeutics for Larsen Syndrome

Drugs for Larsen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 101)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
5 Antirheumatic Agents Phase 4,Phase 3,Phase 1,Phase 2
6 Interleukin 1 Receptor Antagonist Protein Phase 4
7 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
8 Calcium, Dietary Phase 4,Phase 3
9 Antiemetics Phase 4,Phase 3
10 Autonomic Agents Phase 4,Phase 3
11 Gastrointestinal Agents Phase 4,Phase 3
12 Peripheral Nervous System Agents Phase 4,Phase 3
13 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
14 Antibiotics, Antitubercular Phase 4,Phase 3
15 Anticholesteremic Agents Phase 4
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
17 Hypolipidemic Agents Phase 4
18 Lipid Regulating Agents Phase 4
19 Rosuvastatin Calcium Phase 4 147098-20-2
20 Antipsychotic Agents Phase 4
21 Central Nervous System Depressants Phase 4
22 Dopamine Agents Phase 4
23 Dopamine Antagonists Phase 4
24 Neurotransmitter Agents Phase 4
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Psychotropic Drugs Phase 4
27
Serotonin Phase 4 50-67-9 5202
28 Serotonin Agents Phase 4
29 Serotonin Uptake Inhibitors Phase 4
30 sultopride Phase 4
31 Tranquilizing Agents Phase 4
32
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
33
Gemcitabine Approved Phase 3 95058-81-4 60750
34
Pemetrexed Approved, Investigational Phase 3 150399-23-8, 137281-23-3 446556 60843
35
Asparaginase Approved Phase 3 9015-68-3
36
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
37
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
38
Daunorubicin Approved Phase 3 20830-81-3 30323
39
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
40
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
41
Levoleucovorin Approved Phase 3 68538-85-2
42
Methotrexate Approved Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
43
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
44
Pegaspargase Approved, Investigational Phase 3 130167-69-0
45
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
46
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
47
Thioguanine Approved Phase 3,Phase 1,Phase 2 154-42-7 2723601
48
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
50
leucovorin Approved, Nutraceutical Phase 3,Phase 1,Phase 2 58-05-9 143 6006

Interventional clinical trials:

(show all 17)

id Name Status NCT ID Phase Drugs
1 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
2 Microcirculation In Acute Coronary Syndromes Recruiting NCT01382472 Phase 4 Rosuvastatin;Simvastatin
3 Bergen Psychosis Project 2 - The Best Intro Study Recruiting NCT01446328 Phase 4 Amisulpride;Aripiprazole;Olanzapine
4 The INFECIR-2 Albumin Prevention Study Terminated NCT02034279 Phase 4 Albumin
5 Trial Involving Subjects Over 70 Years of Age With Non Small-cell Lung Cancer of Stage IV and Comparing a "Classical" Strategy of Treatment Allocation, With an"Optimized" Strategy Allocating the Same Treatments Completed NCT01257139 Phase 3
6 Dexamethasone Compared With Prednisone During Induction Therapy and MTX With or Without Leucovorin During Maintenance Therapy in Treating Patients With Newly Diagnosed High-Risk Acute Lymphoblastic Leukemia Completed NCT00075725 Phase 3 cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;doxorubicin hydrochloride;leucovorin calcium;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine sulfate
7 High-Dose Fluconazole for the Treatment of Cryptococcal Meningitis in HIV-Infected Individuals Completed NCT00885703 Phase 1, Phase 2 Fluconazole;Amphotericin B
8 Thiopurine EnhAnced Maintenance Therapy Recruiting NCT02912676 Phase 1, Phase 2 Thioguanine (oral)
9 Comparison of Three Treatments for Lower Extremity Apophysitis Unknown status NCT01826071
10 Clinical and Pathophysiological Description of Ocular Ischemic Syndrome Completed NCT00403195
11 Dietary Intervention With Shop Model - SHOPUS Completed NCT01195610
12 A Study of Fluconazole in the Treatment of Cryptococcal Meningitis in Patients With AIDS Completed NCT00002294 Fluconazole
13 A Comparison of the Safety and Effectiveness of Fluconazole or Clotrimazole in the Treatment of Fungal Infections of the Mouth and Throat in Patients With AIDS Completed NCT00002282 Clotrimazole;Fluconazole
14 Multicenter Comparison of Fluconazole (UK-49,858) and Amphotericin B as Treatment for Acute Cryptococcal Meningitis Completed NCT00002075 Flucytosine;Fluconazole;Amphotericin B
15 Pelvic Floor Muscle Training (PFMT) in Treatment and Prevention of POP (POP Study) Completed NCT00271297
16 The Syndrome X-ercise Study SYNDEX Recruiting NCT02905630
17 Digital Star: HIV Prevention for Youth in Mental Health Treatment Enrolling by invitation NCT02921841

Search NIH Clinical Center for Larsen Syndrome

Cochrane evidence based reviews: joint dislocations

Genetic Tests for Larsen Syndrome

Genetic tests related to Larsen Syndrome:

id Genetic test Affiliating Genes
1 Larsen Syndrome, Dominant Type 29
2 Larsen Syndrome 29 24 FLNB

Anatomical Context for Larsen Syndrome

MalaCards organs/tissues related to Larsen Syndrome:

39
Bone, Spinal Cord, Lung, Brain

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 85)
id Title Authors Year
1
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
2
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. ( 28145583 )
2017
3
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. ( 28475863 )
2017
4
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. ( 27502344 )
2016
5
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. ( 28144369 )
2016
6
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. ( 27048506 )
2016
7
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. ( 27275063 )
2016
8
EP10.44: Prenatal diagnosis of Larsen syndrome in a twin pregnancy. ( 27645408 )
2016
9
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. ( 27217658 )
2016
10
Presumed Larsen syndrome in a child: a case with a 12-year follow-up. ( 25536406 )
2015
11
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis. ( 26285895 )
2015
12
Dural ectasia in a child with Larsen syndrome. ( 24674893 )
2014
13
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. ( 24820731 )
2014
14
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )
2014
15
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. ( 23080426 )
2013
16
Pneumoperitoneum in a patient with Larsen syndrome. ( 24221813 )
2013
17
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. ( 22552677 )
2012
18
Ossicular malposition in Larsen syndrome: a case report. ( 24968394 )
2012
19
Malignant hyperthermia-like episode in a child with Larsen syndrome. ( 22412793 )
2012
20
The management of knee dislocation in a child with Larsen syndrome. ( 21876991 )
2011
21
Antenatal diagnosis of Larsen syndrome. ( 20589471 )
2010
22
Larsen syndrome: a review of the literature and case report. ( 21044106 )
2010
23
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. ( 19085972 )
2009
24
Malignant hyperthermia in Larsen syndrome. ( 19691711 )
2009
25
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
26
Larsen syndrome and malignant hyperthermia. ( 20017874 )
2009
27
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. ( 18377309 )
2008
28
Larsen syndrome. ( 18820390 )
2008
29
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. ( 18513679 )
2008
30
Ulnar nerve palsy in a child with Larsen syndrome. ( 18352815 )
2008
31
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. ( 18322662 )
2008
32
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. ( 17202879 )
2007
33
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. ( 16801345 )
2007
34
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. ( 16648737 )
2006
35
Mutations responsible for Larsen syndrome cluster in the FLNB protein. ( 16648377 )
2006
36
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. ( 16715218 )
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
Larsen syndrome--lethal variety. ( 16388157 )
2005
40
Long tortuous aorta in a child with Larsen syndrome. ( 15776121 )
2005
41
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. ( 15385022 )
2004
42
Sevoflurane for general anaesthetic management in a patient with Larsen syndrome. ( 14962340 )
2004
43
Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. ( 15229923 )
2004
44
General anaesthesia in a child with Larsen syndrome. ( 12712791 )
2003
45
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. ( 14745669 )
2003
46
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. ( 12725593 )
2003
47
Larsen syndrome and its anaesthetic considerations. ( 12358662 )
2002
48
Obstetric anesthetic management of a parturient with Larsen syndrome and short stature. ( 11323359 )
2001
49
Larsen syndrome associated with severe congenital hydrocephalus. ( 11837607 )
2001
50
Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome. ( 11343154 )
2001

Variations for Larsen Syndrome

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

71 (show all 12)
id 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 rs28939706
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 all 12)
id 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.4756G> A (p.Gly1586Arg) single nucleotide variant Pathogenic rs80356513 GRCh37 Chromosome 3, 58121790: 58121790
3 FLNB NM_001457.3(FLNB): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs80356508 GRCh37 Chromosome 3, 58067395: 58067395
4 FLNB NM_001457.3(FLNB): c.5071G> A (p.Gly1691Ser) single nucleotide variant Pathogenic rs80356503 GRCh37 Chromosome 3, 58124218: 58124218
5 FLNB NM_001457.3(FLNB): c.1081G> A (p.Gly361Ser) single nucleotide variant Pathogenic rs80356509 GRCh37 Chromosome 3, 58083638: 58083638
6 FLNB NM_001457.3(FLNB): c.1088G> A (p.Gly363Glu) single nucleotide variant Pathogenic rs80356510 GRCh37 Chromosome 3, 58083645: 58083645
7 FLNB NM_001457.3(FLNB): c.4292T> G (p.Leu1431Arg) single nucleotide variant Pathogenic rs80356511 GRCh37 Chromosome 3, 58116537: 58116537
8 FLNB NM_001457.3(FLNB): c.4711_4713delAAT (p.Asn1571del) deletion Pathogenic rs80356512 GRCh37 Chromosome 3, 58121745: 58121747
9 FLNB NM_001457.3(FLNB): c.4775T> A (p.Val1592Asp) single nucleotide variant Pathogenic rs80356514 GRCh37 Chromosome 3, 58121809: 58121809
10 FLNB NM_001457.3(FLNB): c.4808C> T (p.Pro1603Leu) single nucleotide variant Pathogenic rs80356515 GRCh37 Chromosome 3, 58121842: 58121842
11 FLNB NM_001457.3(FLNB): c.5500G> A (p.Gly1834Arg) single nucleotide variant Pathogenic rs80356516 GRCh37 Chromosome 3, 58131722: 58131722
12 FLNB NM_001457.3(FLNB): c.700C> G (p.Leu234Val) single nucleotide variant Pathogenic rs80356507 GRCh37 Chromosome 3, 58067416: 58067416

Expression for Larsen Syndrome

Search GEO for disease gene expression data for Larsen Syndrome.

Pathways for Larsen Syndrome

GO Terms for Larsen Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.13 B4GALT7 CHST3 COL7A1
2 Golgi cisterna membrane GO:0032580 8.62 B4GALT7 CANT1

Sources for Larsen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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42 MeSH
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59 PubMed
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67 TGDB
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