LRS
MCID: LRS001
MIFTS: 51

Larsen Syndrome (LRS) malady

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

Aliases & Classifications for Larsen Syndrome

Aliases & Descriptions for Larsen Syndrome:

Name: Larsen Syndrome 54 12 50 24 25 66 29 13 14 69
Lrs 50 25 66
Autosomal Dominant Larsen Syndrome 50 56
Dominant Larsen Syndrome 12 29
Larsen Syndrome, Dominant Type 69
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;

HPO:

32
larsen syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 150250
Disease Ontology 12 DOID:14764
Orphanet 56 ORPHA503
UMLS via Orphanet 70 C2931648
ICD10 via Orphanet 34 Q74.8

Summaries for Larsen Syndrome

OMIM : 54 Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial... (150250) more...

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 malar flattening, hypertelorism and abnormality of epiphysis morphology. 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 brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and skeleton

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

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).

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 : 66 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 : 71 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Related Diseases for Larsen Syndrome

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



Diseases related to Larsen Syndrome

Symptoms & Phenotypes for Larsen Syndrome

Symptoms by clinical synopsis from OMIM:

150250

Clinical features from OMIM:

150250

Human phenotypes related to Larsen Syndrome:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
4 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
5 intellectual disability 56 32 Occasional (29-5%) HP:0001249
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 scoliosis 56 32 Occasional (29-5%) HP:0002650
8 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
9 short stature 56 32 Occasional (29-5%) HP:0004322
10 broad thumb 56 32 Very frequent (99-80%) HP:0011304
11 abnormality of the cardiovascular system 56 32 Occasional (29-5%) HP:0001626
12 prominent forehead 56 32 Very frequent (99-80%) HP:0011220
13 cleft palate 56 32 Occasional (29-5%) HP:0000175
14 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
15 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
16 flat face 56 32 Very frequent (99-80%) HP:0012368
17 conductive hearing impairment 56 32 Occasional (29-5%) HP:0000405
18 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
19 vertebral segmentation defect 56 32 Occasional (29-5%) HP:0003422
20 craniosynostosis 56 32 Occasional (29-5%) HP:0001363
21 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
22 abnormality of the cervical spine 56 32 Occasional (29-5%) HP:0003319
23 broad distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009836
24 short nail 56 32 Very frequent (99-80%) HP:0001799
25 accessory carpal bones 56 32 Frequent (79-30%) HP:0004232
26 large joint dislocations 56 32 Very frequent (99-80%) HP:0005008
27 laryngotracheomalacia 56 32 Occasional (29-5%) HP:0008755
28 joint laxity 32 HP:0001388
29 pectus excavatum 32 HP:0000767
30 frontal bossing 32 HP:0002007
31 corneal opacity 32 HP:0007957
32 pectus carinatum 32 HP:0000768
33 beaking of vertebral bodies 32 HP:0004568
34 aortic dilatation 32 HP:0001724
35 hip dislocation 32 HP:0002827
36 intrauterine growth retardation 32 HP:0001511
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 knee dislocation 32 HP:0004976

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 FLNB GALNS
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 128)
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
Pemetrexed Approved, Investigational Phase 3 150399-23-8, 137281-23-3 446556 60843
34
Asparaginase Approved Phase 3 9015-68-3
35
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
36
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
37
Daunorubicin Approved Phase 3 20830-81-3 30323
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
39
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
40
Levoleucovorin Approved Phase 3 68538-85-2
41
Methotrexate Approved Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
42
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
43
Pegaspargase Approved, Investigational Phase 3 130167-69-0
44
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
45
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
46
Thioguanine Approved Phase 3,Phase 1,Phase 2 154-42-7 2723601
47
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
48
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
49
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
50
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
2 Microcirculation In Acute Coronary Syndromes Recruiting NCT01382472 Phase 4
3 Bergen Psychosis Project 2 - The Best Intro Study Recruiting NCT01446328 Phase 4
4 The INFECIR-2 Albumin Prevention Study Terminated NCT02034279 Phase 4
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
7 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
8 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
9 Supplemental Corticosteroids in Cirrhotic Hypotensive Patients With Suspicion of Sepsis Recruiting NCT02602210 Phase 3
10 High-Dose Fluconazole for the Treatment of Cryptococcal Meningitis in HIV-Infected Individuals Completed NCT00885703 Phase 1, Phase 2
11 Thiopurine EnhAnced Maintenance Therapy Recruiting NCT02912676 Phase 1, Phase 2
12 SCH 39304 as Therapy for Acute Cryptococcal Meningitis in HIV-Infected Patients Followed by Maintenance Therapy Completed NCT00000677 Phase 1
13 Safety Study of TXA127 to Elevate CD4+ T-Lymphocyte Counts in HIV-Infected Patients on Stable HAART Therapy Terminated NCT00757250 Phase 1
14 Comparison of Three Treatments for Lower Extremity Apophysitis Unknown status NCT01826071
15 Clinical and Pathophysiological Description of Ocular Ischemic Syndrome Completed NCT00403195
16 Dietary Intervention With Shop Model - SHOPUS Completed NCT01195610
17 A Study of Fluconazole in the Treatment of Cryptococcal Meningitis in Patients With AIDS Completed NCT00002294
18 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
19 Multicenter Comparison of Fluconazole (UK-49,858) and Amphotericin B as Treatment for Acute Cryptococcal Meningitis Completed NCT00002075
20 Pelvic Floor Muscle Training (PFMT) in Treatment and Prevention of POP (POP Study) Completed NCT00271297
21 The Syndrome X-ercise Study SYNDEX Recruiting NCT02905630
22 Study of Kidney Tumors in Younger Patients Recruiting NCT00898365

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, Brain

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 84)
id 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
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. ( 28475863 )
2017
3
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. ( 27502344 )
2016
4
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. ( 27275063 )
2016
5
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. ( 27217658 )
2016
6
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. ( 27048506 )
2016
7
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. ( 28144369 )
2016
8
EP10.44: Prenatal diagnosis of Larsen syndrome in a twin pregnancy. ( 27645408 )
2016
9
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis. ( 26285895 )
2015
10
Presumed Larsen syndrome in a child: a case with a 12-year follow-up. ( 25536406 )
2015
11
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )
2014
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
Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. ( 23080426 )
2013
15
Pneumoperitoneum in a patient with Larsen syndrome. ( 24221813 )
2013
16
Ossicular malposition in Larsen syndrome: a case report. ( 24968394 )
2012
17
Malignant hyperthermia-like episode in a child with Larsen syndrome. ( 22412793 )
2012
18
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. ( 22552677 )
2012
19
The management of knee dislocation in a child with Larsen syndrome. ( 21876991 )
2011
20
Larsen syndrome: a review of the literature and case report. ( 21044106 )
2010
21
Antenatal diagnosis of Larsen syndrome. ( 20589471 )
2010
22
Malignant hyperthermia in Larsen syndrome. ( 19691711 )
2009
23
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. ( 19085972 )
2009
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
Larsen syndrome and malignant hyperthermia. ( 20017874 )
2009
26
Larsen syndrome. ( 18820390 )
2008
27
Ulnar nerve palsy in a child with Larsen syndrome. ( 18352815 )
2008
28
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. ( 18513679 )
2008
29
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report. ( 18377309 )
2008
30
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. ( 18322662 )
2008
31
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. ( 16801345 )
2007
32
Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. ( 17202879 )
2007
33
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. ( 16450278 )
2006
34
Mutations responsible for Larsen syndrome cluster in the FLNB protein. ( 16648377 )
2006
35
Aneurysm of the ductus arteriosus in a patient with Larsen syndrome. ( 17006654 )
2006
36
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. ( 16715218 )
2006
37
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation. ( 16648737 )
2006
38
Long tortuous aorta in a child with Larsen syndrome. ( 15776121 )
2005
39
Larsen syndrome--lethal variety. ( 16388157 )
2005
40
Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. ( 15385022 )
2004
41
Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. ( 15229923 )
2004
42
Sevoflurane for general anaesthetic management in a patient with Larsen syndrome. ( 14962340 )
2004
43
General anaesthesia in a child with Larsen syndrome. ( 12712791 )
2003
44
Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. ( 14745669 )
2003
45
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. ( 12725593 )
2003
46
Larsen syndrome and its anaesthetic considerations. ( 12358662 )
2002
47
Larsen syndrome associated with severe congenital hydrocephalus. ( 11837607 )
2001
48
Obstetric anesthetic management of a parturient with Larsen syndrome and short stature. ( 11323359 )
2001
49
Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome. ( 11343154 )
2001
50
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. ( 10735637 )
2000

Variations for Larsen Syndrome

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

66 (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 8.8 B4GALT7 CHST3 COL7A1

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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