LRS
MCID: LRS001
MIFTS: 61

Larsen Syndrome (LRS)

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

Aliases & Classifications for Larsen Syndrome

MalaCards integrated aliases for Larsen Syndrome:

Name: Larsen Syndrome 57 12 73 20 43 58 72 36 29 13 6 15 39 70
Lrs 57 20 43 72
Larsen Syndrome, Dominant Type 73 70
Autosomal Dominant Larsen Syndrome 20
Dominant Larsen Syndrome 12
Joint Dislocations 44
Larsens Syndrome 54

Characteristics:

Orphanet epidemiological data:

58
larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
larsen syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Larsen Syndrome

MedlinePlus Genetics : 43 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 Focal adhesion and Metabolism. The drugs Propofol and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and heart, and related phenotypes are depressed nasal bridge and hypertelorism

Disease Ontology : 12 Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.

GARD : 20 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 ).

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 20-May-2021)

KEGG : 36 Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.

UniProtKB/Swiss-Prot : 72 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 : 73 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 153)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 1 32.4 XYLT1 CANT1
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 32.3 B4GALT7 B3GAT3
3 ehlers-danlos syndrome, musculocontractural type, 2 32.1 DSE CHST14
4 larsen-like syndrome b3gat3 type 31.6 XYLT1 DSE CHST3 CHST14 CANT1 B4GALT7
5 spondyloepiphyseal dysplasia with congenital joint dislocations 31.4 SLC26A2 FLNB CHST3 CHST14 CHST11 CANT1
6 ehlers-danlos syndrome 31.2 FLNA DSE CHST14 B4GALT7 B3GALT6
7 congenital joint dislocations 30.9 CHST3 BPNT2
8 larsen-like syndrome 30.3 LRSL B4GALT7
9 clubfoot 30.0 SLC26A2 CHST3 CHST14
10 scoliosis 30.0 XYLT1 FLNB FLNA CANT1
11 atelosteogenesis 29.8 SLC26A2 FLNC FLNB FLNA
12 boomerang dysplasia 29.8 FLNC FLNB FLNA CHST3 B4GALT7
13 osteochondrodysplasia 29.1 XYLT1 SLC26A2 FLNC FLNB FLNA CHST3
14 chondrodysplasia with joint dislocations, gpapp type 11.9
15 primary bone dysplasia with multiple joint dislocations 11.4
16 intellectual developmental disorder with short stature, facial anomalies, and speech defects 11.3
17 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.3
18 acromesomelic dysplasia, hunter-thompson type 11.2
19 atelosteogenesis, type iii 11.0
20 multiple pterygium syndrome, lethal type 11.0
21 pseudodiastrophic dysplasia 11.0
22 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.0
23 neuropathy, hereditary sensory and autonomic, type vii 11.0
24 anauxetic dysplasia 3 11.0
25 spondyloepimetaphyseal dysplasia with multiple dislocations 11.0
26 bone dysplasia, lethal, holmgren type 11.0
27 flnb disorders 10.3
28 otopalatodigital syndrome, type i 10.3 FLNB FLNA
29 spondylodysplastic ehlers-danlos syndrome 10.2 B4GALT7 B3GALT6
30 tricuspid valve prolapse 10.2 FLNA CHST14
31 macular dystrophy, corneal 10.2 CHST3 CHST14
32 cleft palate, isolated 10.2
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
34 otopalatodigital syndrome, type ii 10.2 FLNC FLNB FLNA
35 saul-wilson syndrome 10.2 TGDS CHST3 CHST14
36 musculocontractural ehlers-danlos syndrome 10.2 DSE CHST14
37 spondylocarpotarsal synostosis syndrome 10.2 SLC26A2 FLNB FLNA
38 otopalatodigital syndrome spectrum disorder 10.2 FLNC FLNB FLNA
39 b4galt7-related spondylodysplastic ehlers-danlos syndrome 10.2 B4GALT7 B3GALT6
40 frontometaphyseal dysplasia 10.1 FLNC FLNB FLNA
41 melnick-needles syndrome 10.1 FLNC FLNB FLNA
42 ehlers-danlos syndrome, spondylodysplastic type, 2 10.1 B4GALT7 B3GAT3 B3GALT6
43 myopathy, myofibrillar, 5 10.1 FLNC FLNB FLNA
44 radioulnar synostosis 10.1 B4GALT7 B3GAT3 B3GALT6
45 ehlers-danlos syndrome, musculocontractural type, 1 10.1 CHST3 CHST14 CHST11
46 myofibrillar myopathy 10.1 FLNC FLNB FLNA
47 malignant hyperthermia 10.1
48 congenital knee dislocation 10.1
49 congenital amyoplasia 10.1
50 achondrogenesis, type ib 10.1 SLC26A2 CHST11

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 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
4 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
8 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 short nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001799
11 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
12 large joint dislocations 58 31 hallmark (90%) Very frequent (99-80%) HP:0005008
13 accessory carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0004232
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
17 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
18 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
21 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
22 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
23 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
24 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
25 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
26 abnormality of the cervical spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003319
27 laryngotracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008755
28 frontal bossing 31 HP:0002007
29 corneal opacity 31 HP:0007957
30 pectus carinatum 31 HP:0000768
31 beaking of vertebral bodies 31 HP:0004568
32 intrauterine growth retardation 31 HP:0001511
33 pectus excavatum 31 HP:0000767
34 atrial septal defect 31 HP:0001631
35 joint laxity 31 HP:0001388
36 talipes equinovarus 31 HP:0001762
37 cleft upper lip 31 HP:0000204
38 hip dislocation 31 HP:0002827
39 ventricular septal defect 31 HP:0001629
40 hypodontia 31 HP:0000668
41 spina bifida occulta 31 HP:0003298
42 elbow dislocation 31 HP:0003042
43 hypoplastic cervical vertebrae 31 HP:0008434
44 tracheomalacia 31 HP:0002779
45 short metacarpal 31 HP:0010049
46 tracheal stenosis 31 HP:0002777
47 aortic aneurysm 31 HP:0004942
48 cervical kyphosis 31 HP:0002947
49 short metatarsal 31 HP:0010743
50 talipes equinovalgus 31 HP:0001772

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Larsen Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.91 BPNT2 CHST11 CHST14 COL7A1 FLNA FLNB
2 mortality/aging MP:0010768 9.83 B3GALT6 B3GAT3 BPNT2 CANT1 CHST11 CHST14
3 limbs/digits/tail MP:0005371 9.81 BPNT2 CANT1 CHST11 CHST14 COL7A1 DSE
4 skeleton MP:0005390 9.32 BPNT2 CHST11 CHST14 CHST3 COL7A1 FLNA

Drugs & Therapeutics for Larsen Syndrome

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Etomidate Approved Phase 4 33125-97-2 36339 667484
4 Hypnotics and Sedatives Phase 4
5 Anesthetics, Intravenous Phase 4
6 Anesthetics, Local Phase 4
7 Sodium Channel Blockers Phase 4
8 Anti-Arrhythmia Agents Phase 4
9 Diuretics, Potassium Sparing Phase 4
10
Ketamine Approved, Vet_approved Phase 2, Phase 3 6740-88-1 3821
11
Dexmedetomidine Approved, Vet_approved Phase 2, Phase 3 113775-47-6 68602 5311068
12
Ketotifen Approved Phase 3 34580-13-7, 34580-14-8 3827
13
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
14 Mitogens Phase 2, Phase 3
15 Analgesics Phase 2, Phase 3
16 Neurotransmitter Agents Phase 2, Phase 3
17 Excitatory Amino Acid Antagonists Phase 2, Phase 3
18 Anesthetics, Dissociative Phase 2, Phase 3
19 Pharmaceutical Solutions Phase 2, Phase 3
20 Anti-Allergic Agents Phase 3
21 Histamine Antagonists Phase 3
22 Dermatologic Agents Phase 3
23
Histamine Phosphate Phase 3 51-74-1 65513
24 Histamine H1 Antagonists Phase 3
25
Methoxyflurane Approved, Investigational, Vet_approved 76-38-0 4116
26
Midazolam Approved, Illicit 59467-70-8 4192
27
tannic acid Approved 1401-55-4
28
Nitrous oxide Approved, Vet_approved 10024-97-2 948
29
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
30
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
31
Ropivacaine Approved 84057-95-4 71273 175805
32 Psychotropic Drugs
33 Anti-Anxiety Agents
34 GABA Modulators
35 Calamus
36 Analgesics, Non-Narcotic
37 Antirheumatic Agents
38 Dexketoprofen trometamol
39 Anti-Inflammatory Agents
40 Anti-Inflammatory Agents, Non-Steroidal
41 Tea
42 Anesthetics, General
43 Anesthetics
44 Anesthetics, Inhalation
45 Ether

Interventional clinical trials:

(show top 50) (show all 133)
# Name Status NCT ID Phase Drugs
1 Target-controlled Infusion With Propofol in the Emergency Department : a Prospective Study on 45 Adult Patients Unknown status NCT03783494 Phase 4 Target control infusion with propofol
2 Ketamine-propofol Versus Ketamine Alone for Procedural Sedation in Adults : a Blinded, Randomized Controlled Trial Completed NCT01544725 Phase 4 Procedural sedation with ketamine-propofol combination;Procedural sedation with ketamine alone
3 A Randomized, Prospective Comparison of Stainless Steel and Bioabsorbable Screw Fixation of Lisfranc Foot Injuries Completed NCT00985023 Phase 4
4 Intra-articular Lidocaine vs Procedural Sedation for Anterior Shoulder Dislocations Recruiting NCT03625076 Phase 4 Intra-articular Lidocaine;Procedural Sedation with etomidate or propofol
5 Dual-mobility vs. Single-bearing Components in THA at "High Risk" for Prosthetic Dislocation Recruiting NCT04092634 Phase 4
6 Posterior Compression - Distraction Reduction (CDR) Technique in the Treatment of Basilar Invagination Associated With Atlantoaxial Dislocation Unknown status NCT02463630 Phase 3
7 PRP Treatment for Medial Retinaculum Tear - Randomized-Double-Blind-Placebo Control Trail Completed NCT00743873 Phase 2, Phase 3 placebo
8 Does Immobilization of the Shoulder in External Rotation Reduce the Recurrence Rate of Shoulder Dislocation? Completed NCT00202735 Phase 2, Phase 3
9 A Randomized Evaluation of Immobilization in External Rotation in the Management of Acute Anterior Dislocations of the Shoulder Completed NCT00196560 Phase 3
10 Intranasal Dexmedetomidine Plus Ketamine for Procedural Sedation in Children: an Adaptive Randomized Controlled Non-inferiority Multicenter Trial Recruiting NCT04195256 Phase 2, Phase 3 IN Ketodex (D4K2);IN Ketodex (D3K3);IN Ketodex (D2K4);IV Ketamine
11 PrEvention of Posttraumatic Joint contractuRes With Ketotifen 2 Recruiting NCT03582176 Phase 3 Lactose Placebo;Ketotifen Fumarate 2mg;Ketotifen Fumarate 5mg
12 A Prospective Study of the Effect of Treatment of First Time Traumatic Shoulder Anterior Dislocation by Immobilization in External Rotation on the Incidence of Recurrent Dislocation Unknown status NCT01648335 Phase 2
13 Altering Posttraumatic Osteoarthritis After Patellar Dislocation: Blood Flow Restriction Training, Aspiration, and Intraarticular Normal Saline Recruiting NCT04554212 Phase 2 Normal saline
14 Efficacy of California Tri-pull Taping Method in the Treatment of Post Stroke Shoulder Subluxation- A Randomized Clinical Trial. Completed NCT02192476 Phase 1
15 Effect of California Tri-pull Taping Method on Shoulder Subluxation, Pain, Active Range of Motion and Upper Limb Functional Recovery After Stroke - A Pre Test Post Test Design Completed NCT02399904 Phase 1
16 First Time Anterior Glenohumeral Joint Dislocation With a Bankart Lesion in Young Patients: Which Type of Immobilization Should be Chosen? A Prospective Randomized Study Unknown status NCT01111500
17 Acromio-clavicular Joint Dislocation Type III. Conservative Treatment Compared to Surgical Management With 3.5mm Clavicle Hook Plate. A Prospective Randomized Study Unknown status NCT01110304
18 Case Series to Evaluate Clinical Outcome of Coracoclavicular Ligament Repair Using Autogenous Gracilis Tendon in Endobutton System. Unknown status NCT01759147
19 A Randomized, Prospective Trial Comparing Reconstruction Of Acute Coracoclavicular Ligament Disruption With and Without Tendon Graft Unknown status NCT03060564
20 Assessment of Maximal Incisal Opening Using Patient Specific Titanium Eminoplasty Versus Inlay Autogenous Bone Graft for Treatment of Chronic Mandibular Condylar Dislocation Unknown status NCT03728270
21 Investigation of the Value of Femoral Shortening Osteotomy During Open Treatment of Developmental Dislocation of the Hip in Waliking Age Group Unknown status NCT02633904
22 Pre-drilling Pilot Holes for Self-drilling Schanz Pins: Does it Reduce the Incidence of Pin Tract Infection and Pin Loosening? Unknown status NCT01046747
23 RESTRICTED VS. FREE KNEE RANGE OF MOTION FOR PRIMARY TRAUMATIC PATELLAR DISLOCATION: A PROSPECTIVE RANDOMIZED STUDY Unknown status NCT01344915
24 Propofol Target-controlled Infusion Versus Usual Care for the Sedation of Adult Patients With Acute Shoulder Dislocation in the Emergency Department Unknown status NCT03442803
25 Diagnostic Accuracy of Bedside Point of Care Ulrasound (POCUS) in the Management of the Shoulder Dislocations Unknown status NCT02469818
26 Arthroscopic Midcarpal Wrist Arthrodesis: Clinical and Functional Outcomes Unknown status NCT03763552
27 The Effects of Platelet-rich Plasma Prolotherapy on Pain Score and Frequency of Luxation in Temporomandibular Joint Subluxation A Prospective Randomized Placebo Controlled Trial Unknown status NCT03655275 Early Phase 1
28 Patients Education of a Self-reduction Technique for Anterior Dislocation of Shoulder Unknown status NCT02787395
29 Knee Dislocation - Clinical Evaluation of the Use of Hinged External Fixator After Ligament Reconstruction. Randomized Prospective Study. Unknown status NCT02290197
30 Medial Patellofemoral Ligament (MPFL) Reconstruction With or Without Tibial Tubercle Transfer for Recurrent Patellar Instability Unknown status NCT02267564
31 A Randomized Clinical Trial Evaluating Fixation Insitu Versus Removal for Midfoot Lisfranc Injuries Unknown status NCT02374944
32 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Unknown status NCT02900482
33 "Patient Reported Outcome After Dislocation of a Primary THA" Unknown status NCT03860025
34 "True Incidence of Hip Dislocation After Primary THA - a Nationwide Population Study" Unknown status NCT03859791
35 Reduction of Anterior Shoulder Dislocation Facilitated by Inhaled Low Dose Methoxyflurane - a Pilot Study Unknown status NCT03853954
36 Incidence of Recall After Procedural Sedation With Propofol in the Emergency Department Unknown status NCT02200744
37 Comparing FARES Method With SPASO Method for Reduction of Anterior Shoulder Dislocation: a Prospective Randomized Trial Unknown status NCT01979237
38 A Randomized Multi-Centre Controlled Trial of Large Diameter (36/40 mm) Versus Conventional Diameter (32 mm) Femoral Heads for the Prevention of Post Revision Arthroplasty Dislocation Unknown status NCT00175500
39 Posterior Compression Distraction Reduction Technique System in the Treatment of BI-AAD Unknown status NCT03070743
40 US Guided Interscalene Block Compared With Sedation for Shoulder Dislocation Reduction in the ER Unknown status NCT03041506 Lidocaine;Midazolam;Ketamine
41 Operative or Conservative Treatment of Acute Acromioclavicular Joint Dislocation Rockwood Grade III and V - a Prospective Randomized Study Completed NCT01725997
42 Prospective Series of Acute Acromioclavicular Dislocations Grade III+. Arthroscopic Fixation With Tightrope (R). Completed NCT01274884
43 Evaluation of Effects of Clavicular Hook Plate on Subacromial Space Completed NCT01205763
44 Adjunctive Nitrous Oxide During Emergency Department Propofol Sedation in Adults, a Pilot Study Completed NCT02410707 Nitrous Oxide arm;Propofol;Oxygen
45 Conservative Treatment of Rockwood Type III Acromioclavicular Dislocation With Two Different Types of Braces: a Comparative Prospective Randomized Trial Completed NCT03261778
46 A Multicenter Randomized Clinical Trial of Non-operative Versus Operative Treatment of Acute Acromioclavicular Joint Dislocation Completed NCT00594841
47 Transmuscular Quadratus Lumborum Block Block for Congenital Hip Dislocation Surgery: Randomized Controlled Study Completed NCT04212832 Bupivacaine
48 Selective Radiography in Anterior Shoulder Dislocation: Prospective Validation Rule of Decision Rules Derived in Fresno and Quebec Completed NCT01585467
49 Does Shoulder Stabilizations Stabilize Shoulders? Completed NCT02725333
50 Immobilization in External Rotation After First Time Anterior Shoulder Dislocation: A Prospective Randomized Study Completed NCT00707018

Search 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 29 FLNB

Anatomical Context for Larsen Syndrome

MalaCards organs/tissues related to Larsen Syndrome:

40
Spinal Cord, Bone, Heart, Tongue, Brain, Skin

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 159)
# Title Authors PMID Year
1
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 6 57 61 54
16801345 2007
2
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 57 6 61
14991055 2004
3
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. 57 61
12725593 2003
4
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism. 57 61
11045584 2000
5
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. 57 61
10735637 2000
6
Cervical kyphosis in patients who have Larsen syndrome. 61 57
8609132 1996
7
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. 57 61
7485161 1995
8
A case of Larsen syndrome with severe cervical malformations. 61 57
7917129 1994
9
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. 61 57
8213905 1993
10
Mixed hearing loss in Larsen syndrome. 57 61
3378369 1988
11
Oral and craniofacial morphology of a patient with Larsen syndrome. 61 57
3793859 1986
12
Separating Larsen syndrome from the "arthrogryposis basket". 61 57
7328098 1981
13
The Larsen syndrome and glial proliferation in the brain. 57 61
899784 1977
14
Larsen's syndrome. Report of three cases in the one family, mother and two offspring. 57
735785 1978
15
Larsen's syndrome;. 57
1112073 1975
16
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. 57
5539773 1971
17
Autosomal dominant inheritance in Larsen's syndrome. 57
5116594 1971
18
Multiple congenital dislocations associated with characteristic facial abnormality. 57
14779259 1950
19
A report on four cases of congenital genu recurvatum occurring in one family. 57
20247238 1947
20
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. 61 54
17360453 2007
21
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. 54 61
16715218 2006
22
Mutations responsible for Larsen syndrome cluster in the FLNB protein. 61 54
16648377 2006
23
Mutations in FLNB cause boomerang dysplasia. 61 54
15994868 2005
24
An orthodontic perspective on Larsen syndrome. 61
33691679 2021
25
50 Years Ago in TheJournalofPediatrics: 50 Years Ago Today: The Expanding Phenotype of Larsen Syndrome. 61
33487232 2021
26
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. 61
33009817 2021
27
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. 61
33255942 2020
28
Knee arthrodesis for a congenital luxation with Larsen syndrome. 61
32487529 2020
29
A 360-Degree Surgical Approach for Correction of Cervical Kyphosis and Atlantoaxial Dislocation in the Case of Larsen Syndrome. 61
32140028 2020
30
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019
31
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 61
31356505 2019
32
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children. 61
31393310 2019
33
A case study of atypical Larsen syndrome with absent hallmark joint dislocations. 61
30916490 2019
34
FEVR findings in patients with Loeys-Dietz syndrome type II. 61
30406707 2018
35
Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator. 61
30111500 2018
36
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 61
30170566 2018
37
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 61
29566257 2018
38
Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. 61
29887954 2018
39
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. 61
28639312 2017
40
Otologic manifestations of Larsen syndrome. 61
28964299 2017
41
Filamin B: The next hotspot in skeletal research? 61
28739045 2017
42
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. 61
28145583 2017
43
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 61
28652603 2017
44
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 61
28475863 2017
45
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. 61
27502344 2017
46
Spine malformation complex in 3 diverse syndromic entities: Case reports. 61
27977582 2016
47
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. 61
27048506 2016
48
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. 61
27275063 2016
49
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. 61
27217658 2016
50
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. 61
28144369 2016

Variations for Larsen Syndrome

ClinVar genetic disease variations for Larsen Syndrome:

6 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNB NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser) SNV Pathogenic 21278 rs80356509 GRCh37: 3:58083638-58083638
GRCh38: 3:58097911-58097911
2 FLNB NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu) SNV Pathogenic 21279 rs80356510 GRCh37: 3:58083645-58083645
GRCh38: 3:58097918-58097918
3 FLNB NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg) SNV Pathogenic 21281 rs80356511 GRCh37: 3:58116537-58116537
GRCh38: 3:58130810-58130810
4 FLNB NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del) Deletion Pathogenic 21283 rs80356512 GRCh37: 3:58121745-58121747
GRCh38: 3:58136018-58136020
5 FLNB NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp) SNV Pathogenic 21285 rs80356514 GRCh37: 3:58121809-58121809
GRCh38: 3:58136082-58136082
6 FLNB NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu) SNV Pathogenic 21287 rs80356515 GRCh37: 3:58121842-58121842
GRCh38: 3:58136115-58136115
7 FLNB NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) SNV Pathogenic 21292 rs80356516 GRCh37: 3:58131722-58131722
GRCh38: 3:58145995-58145995
8 FLNB NM_001457.4(FLNB):c.700C>G (p.Leu234Val) SNV Pathogenic 21296 rs80356507 GRCh37: 3:58067416-58067416
GRCh38: 3:58081689-58081689
9 FLNB NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) SNV Pathogenic 6398 rs80356506 GRCh37: 3:58062962-58062962
GRCh38: 3:58077235-58077235
10 FLNB NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) SNV Pathogenic 6399 rs80356513 GRCh37: 3:58121790-58121790
GRCh38: 3:58136063-58136063
11 FLNB NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) SNV Pathogenic 6405 rs80356508 GRCh37: 3:58067395-58067395
GRCh38: 3:58081668-58081668
12 FLNB NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) SNV Pathogenic 6406 rs80356503 GRCh37: 3:58124218-58124218
GRCh38: 3:58138491-58138491
13 CHST3 NM_004273.5(CHST3):c.1254_1256GAA[1] (p.Lys419del) Microsatellite Pathogenic 694680 rs1589510055 GRCh37: 10:73768042-73768044
GRCh38: 10:72008284-72008286
14 FLNB NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) SNV Pathogenic 694710 rs868820857 GRCh37: 3:58124075-58124075
GRCh38: 3:58138348-58138348
15 FLNB NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) SNV Likely pathogenic 801980 rs1356745912 GRCh37: 3:58120453-58120453
GRCh38: 3:58134726-58134726
16 FLNB NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) SNV Likely pathogenic 522782 rs1553704446 GRCh37: 3:58124219-58124219
GRCh38: 3:58138492-58138492
17 CANT1 NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg) SNV Likely pathogenic 929439 rs1361897950 GRCh37: 17:76991196-76991196
GRCh38: 17:78995114-78995114
18 COL5A1 NM_001278074.1(COL5A1):c.1389G>A (p.Pro463=) SNV Uncertain significance 373924 rs1057518771 GRCh37: 9:137623973-137623973
GRCh38: 9:134732127-134732127
19 CHST3 NM_004273.5(CHST3):c.828C>T (p.Arg276=) SNV Uncertain significance 300563 rs140547825 GRCh37: 10:73767617-73767617
GRCh38: 10:72007859-72007859
20 CHST3 NM_004273.5(CHST3):c.*1256G>A SNV Uncertain significance 300603 rs886047169 GRCh37: 10:73769485-73769485
GRCh38: 10:72009727-72009727
21 CHST3 NM_004273.5(CHST3):c.-265C>G SNV Uncertain significance 300551 rs371903365 GRCh37: 10:73724295-73724295
GRCh38: 10:71964537-71964537
22 CHST3 NM_004273.5(CHST3):c.*4162A>G SNV Uncertain significance 300665 rs551591119 GRCh37: 10:73772391-73772391
GRCh38: 10:72012633-72012633
23 CHST3 NM_004273.5(CHST3):c.*1399T>C SNV Uncertain significance 300608 rs562405951 GRCh37: 10:73769628-73769628
GRCh38: 10:72009870-72009870
24 CHST3 NM_004273.5(CHST3):c.*4210T>C SNV Uncertain significance 300666 rs559945769 GRCh37: 10:73772439-73772439
GRCh38: 10:72012681-72012681
25 CHST3 NM_004273.5(CHST3):c.*2178G>T SNV Uncertain significance 300628 rs886047174 GRCh37: 10:73770407-73770407
GRCh38: 10:72010649-72010649
26 CHST3 NM_004273.5(CHST3):c.*1960G>A SNV Uncertain significance 300623 rs886047172 GRCh37: 10:73770189-73770189
GRCh38: 10:72010431-72010431
27 CHST3 NM_004273.5(CHST3):c.*812G>A SNV Uncertain significance 300583 rs886047162 GRCh37: 10:73769041-73769041
GRCh38: 10:72009283-72009283
28 CHST3 NM_004273.5(CHST3):c.*523A>G SNV Uncertain significance 300579 rs189173490 GRCh37: 10:73768752-73768752
GRCh38: 10:72008994-72008994
29 CHST3 NM_004273.5(CHST3):c.561G>C (p.Val187=) SNV Uncertain significance 286649 rs147804585 GRCh37: 10:73767350-73767350
GRCh38: 10:72007592-72007592
30 CHST3 NM_004273.5(CHST3):c.*1088A>G SNV Uncertain significance 300594 rs115617050 GRCh37: 10:73769317-73769317
GRCh38: 10:72009559-72009559
31 CHST3 NM_004273.5(CHST3):c.*1053A>T SNV Uncertain significance 300593 rs886047166 GRCh37: 10:73769282-73769282
GRCh38: 10:72009524-72009524
32 CHST3 NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) SNV Uncertain significance 300557 rs777858428 GRCh37: 10:73767065-73767065
GRCh38: 10:72007307-72007307
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.1197C>T (p.Asp399=) SNV Uncertain significance 300566 rs184636110 GRCh37: 10:73767986-73767986
GRCh38: 10:72008228-72008228
39 CHST3 NM_004273.5(CHST3):c.543C>T (p.Ala181=) SNV Uncertain significance 300561 rs778478785 GRCh37: 10:73767332-73767332
GRCh38: 10:72007574-72007574
40 CHST3 NM_004273.5(CHST3):c.*4869G>A SNV Uncertain significance 300684 rs773240688 GRCh37: 10:73773098-73773098
GRCh38: 10:72013340-72013340
41 CHST3 NM_004273.5(CHST3):c.*4409C>T SNV Uncertain significance 300669 rs754282055 GRCh37: 10:73772638-73772638
GRCh38: 10:72012880-72012880
42 CHST3 NM_004273.5(CHST3):c.*1664G>C SNV Uncertain significance 300617 rs375960396 GRCh37: 10:73769893-73769893
GRCh38: 10:72010135-72010135
43 CHST3 NM_004273.5(CHST3):c.*406G>A SNV Uncertain significance 300575 rs80210009 GRCh37: 10:73768635-73768635
GRCh38: 10:72008877-72008877
44 CHST3 NM_004273.5(CHST3):c.*856C>G SNV Uncertain significance 300586 rs186004202 GRCh37: 10:73769085-73769085
GRCh38: 10:72009327-72009327
45 CHST3 NM_004273.5(CHST3):c.*1621C>G SNV Uncertain significance 300616 rs768478124 GRCh37: 10:73769850-73769850
GRCh38: 10:72010092-72010092
46 CHST3 NM_004273.5(CHST3):c.*4884C>G SNV Uncertain significance 300685 rs886047185 GRCh37: 10:73773113-73773113
GRCh38: 10:72013355-72013355
47 CHST3 NM_004273.5(CHST3):c.*4498A>G SNV Uncertain significance 300674 rs552578786 GRCh37: 10:73772727-73772727
GRCh38: 10:72012969-72012969
48 CHST3 NM_004273.5(CHST3):c.-108+6T>G SNV Uncertain significance 300553 rs886047159 GRCh37: 10:73724458-73724458
GRCh38: 10:71964700-71964700
49 CHST3 NM_004273.5(CHST3):c.*3905C>T SNV Uncertain significance 300659 rs886047181 GRCh37: 10:73772134-73772134
GRCh38: 10:72012376-72012376
50 CHST3 NM_004273.5(CHST3):c.886G>C (p.Val296Leu) SNV Uncertain significance 300564 rs762224143 GRCh37: 10:73767675-73767675
GRCh38: 10:72007917-72007917

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

72 (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 related to Larsen Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 XYLT1 TGDS SLC26A2 DSE CHST3 CHST14
2
Show member pathways
12.36 XYLT1 SLC26A2 DSE CHST3 CHST14 CHST11
3
Show member pathways
11.73 XYLT1 DSE CHST3 CHST14 CHST11 B4GALT7
4
Show member pathways
11.29 XYLT1 B4GALT7 B3GAT3 B3GALT6

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 integral component of membrane GO:0016021 10.1 XYLT1 SLC26A2 FLNB DSE CHST3 CHST14
2 Golgi apparatus GO:0005794 9.65 XYLT1 DSE CHST3 CHST14 CHST11 CANT1
3 Z disc GO:0030018 9.43 FLNC FLNB FLNA
4 Golgi cisterna membrane GO:0032580 9.33 CANT1 B4GALT7 B3GALT6
5 Golgi membrane GO:0000139 9.28 XYLT1 DSE COL7A1 CHST3 CHST14 CHST11

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.8 CHST3 CHST14 CHST11 B4GALT7 B3GAT3
2 glycosaminoglycan biosynthetic process GO:0006024 9.67 XYLT1 B4GALT7 B3GAT3 B3GALT6
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.56 XYLT1 DSE B3GAT3 B3GALT6
4 chondrocyte development GO:0002063 9.51 CHST11 BPNT2
5 chondroitin sulfate metabolic process GO:0030204 9.5 DSE CHST11 BPNT2
6 cell junction assembly GO:0034329 9.49 FLNC FLNA
7 dermatan sulfate biosynthetic process GO:0030208 9.48 DSE CHST14
8 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.46 XYLT1 B3GAT3
9 glycosaminoglycan metabolic process GO:0030203 9.46 XYLT1 B4GALT7 B3GAT3 B3GALT6
10 carbohydrate biosynthetic process GO:0016051 9.43 CHST14 CHST11
11 chondroitin sulfate biosynthetic process GO:0030206 9.35 XYLT1 DSE CHST3 CHST11 B3GALT6
12 proteoglycan biosynthetic process GO:0030166 9.02 XYLT1 CHST11 CANT1 B4GALT7 B3GALT6

Molecular functions related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 9.13 CHST3 CHST14 CHST11
2 N-acetylgalactosamine 4-O-sulfotransferase activity GO:0001537 8.62 CHST14 CHST11

Sources for Larsen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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