Behr Syndrome (BEHRS)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Behr Syndrome

MalaCards integrated aliases for Behr Syndrome:

Name: Behr Syndrome 57 12 73 20 72 44 15 70
Abortive Cerebellar Ataxia 12 29 6
Behrs 57 12 72
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 57 72
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 12 20
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 12
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 72
Syndrome, Behr 39
Spasm 44



57 (Updated 20-May-2021)
autosomal recessive

progressive disorder
onset in the first decade
heterozygous mutation carriers may have isolated optic atrophy


behr syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Summaries for Behr Syndrome

OMIM® : 57 'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III. (210000) (Updated 20-May-2021)

MalaCards based summary : Behr Syndrome, also known as abortive cerebellar ataxia, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia, tremor and spasm. An important gene associated with Behr Syndrome is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). The drugs Simvastatin and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has material basis in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29.

GARD : 20 Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.

UniProtKB/Swiss-Prot : 72 Behr syndrome: An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade.

Wikipedia : 73 Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar... more...

Related Diseases for Behr Syndrome

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

(show top 50) (show all 702)
# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 30.0 OPA1 MFN2
2 3-methylglutaconic aciduria, type iii 29.9 TMEM126A SPG7 SLC25A46 OPA3 OPA1 MTRFR
3 optic atrophy 1 29.9 WBP1L SPG7 OPA1 MFN2
4 paraplegia 29.2 SPG7 MTRFR C19orf12
5 peripheral nervous system disease 29.1 SPG7 OPA3 OPA1 MFN2
6 cranial nerve disease 28.9 SPG7 OPA3 OPA1 MFN2
7 neuropathy 28.5 TMEM126A SPG7 SLC25A46 OPA1 MTRFR MFN2
8 optic nerve disease 27.9 TMEM126A SPG7 SLC25A46 OPA3 OPA1 MTRFR
9 hemifacial spasm 11.6
10 hemifacial spasm, familial 11.5
11 accommodative spasm 11.5
12 developmental and epileptic encephalopathy 1 11.5
13 west syndrome 11.4
14 levator syndrome 11.2
15 anal spasm 11.2
16 developmental and epileptic encephalopathy 2 11.2
17 coronary artery vasospasm 11.2
18 angina pectoris 11.1
19 facial spasm 11.1
20 myocardial infarction 11.1
21 blepharospasm, benign essential 11.1
22 myoclonus 11.0
23 myopathy 11.0
24 hypocalcemia, autosomal dominant 1 11.0
25 dyskinesia of esophagus 11.0
26 spasmus nutans 10.9
27 corpus callosum dysgenesis cleft spasm 10.9
28 tetanus 10.9
29 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 10.9
30 developmental and epileptic encephalopathy 15 10.9
31 bronchial disease 10.9
32 cdkl5 deficiency disorder 10.9
33 raynaud disease 10.9
34 spasmodic dysphonia 10.9
35 satoyoshi syndrome 10.9
36 myotonia congenita 10.9
37 myotonia congenita, autosomal recessive 10.8
38 subacute sclerosing panencephalitis 10.8
39 paroxysmal nocturnal hemoglobinuria 1 10.8
40 hypomagnesemia 1, intestinal 10.8
41 hypocalcemia, autosomal dominant 2 10.8
42 primary hypomagnesemia 10.8
43 muscular disease 10.8
44 psychologic vaginismus 10.8
45 hydranencephaly 10.8
46 jackhammer esophagus 10.8
47 blepharospasm 10.7
48 trigeminal neuralgia 10.6
49 ventricular fibrillation, paroxysmal familial, 1 10.6
50 dysphagia 10.6

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

Diseases related to Behr Syndrome

Symptoms & Phenotypes for Behr Syndrome

Human phenotypes related to Behr Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 gait disturbance 31 HP:0001288
5 tremor 31 HP:0001337
6 optic atrophy 31 HP:0000648
7 progressive visual loss 31 HP:0000529
8 achilles tendon contracture 31 HP:0001771
9 motor delay 31 HP:0001270
10 dysmetria 31 HP:0001310
11 progressive spasticity 31 HP:0002191
12 babinski sign 31 HP:0003487
13 cerebellar atrophy 31 HP:0001272
14 hamstring contractures 31 HP:0003089
15 adductor longus contractures 31 HP:0006366

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cerebellar atrophy
delayed motor development
Skeletal Limbs:
contractures, lower limbs (in some patients)
achilles tendon contractures (in some patients)
hamstring contractures (in some patients)
adductor longus contractures (in some patients)

Laboratory Abnormalities:
increased lactate in the cerebrospinal fluid
reduced mitochondrial complex i activity in fibroblasts

Head And Neck Eyes:
optic atrophy
progressive visual loss

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy

Clinical features from OMIM®:

210000 (Updated 20-May-2021)

UMLS symptoms related to Behr Syndrome:

ataxia; tremor; spasm; abnormal pyramidal signs

MGI Mouse Phenotypes related to Behr Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 INPP5E MFN2 OPA1 OPA3 SLC25A46 SPG7

Drugs & Therapeutics for Behr Syndrome

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

(show top 50) (show all 350)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Simvastatin Approved Phase 4 79902-63-9 54454
Atorvastatin Approved Phase 4 134523-00-5 60823
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
Ibuprofen Approved Phase 4 15687-27-1 3672
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
Propranolol Approved, Investigational Phase 4 525-66-6 4946
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
Codeine Approved, Illicit Phase 4 76-57-3 5284371
Ipratropium Approved, Experimental Phase 4 22254-24-6, 60205-81-4 43232 657309
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
Tocopherol Approved, Investigational Phase 4 1406-66-2
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
Thrombin Approved, Investigational Phase 4
Protein C Approved Phase 4
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
Rifampicin Approved Phase 4 13292-46-1 5458213 5381226
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Remifentanil Approved Phase 4 132875-61-7 60815
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
Succinylcholine Approved Phase 4 306-40-1 5314
Opium Approved, Illicit Phase 4 8008-60-4
Belladonna Approved, Experimental Phase 4
Magnesium oxide Approved Phase 4 1309-48-4 14792
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
Sarpogrelate Investigational Phase 4 125926-17-2 5160
41 Tocotrienol Investigational Phase 4 6829-55-6
42 Menaquinone Investigational Phase 4 1182-68-9
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
44 Lidocaine, Prilocaine Drug Combination Phase 4
45 Antimetabolites Phase 4
46 Anticholesteremic Agents Phase 4
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
48 Fibrinolytic Agents Phase 4
49 Hypolipidemic Agents Phase 4
50 Platelet Aggregation Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 241)
# Name Status NCT ID Phase Drugs
1 Effect of Topical Anesthesia on Patient's Pain Discomfort and Radial Artery Spasm in Transradial Catheterization Unknown status NCT03501212 Phase 4 Topical Anesthetic;Placebo
2 A Prospective, Single-center, Randomized Study to Evaluate the Effect of Sarpogrelate, a Selective Serotonin Receptor Antagonist, and High Dose Statin on the Reduction of Coronary Spasm in the Patients With Variant Angina Unknown status NCT01674686 Phase 4 Sarpogrelate;Atorvastatin
3 Comparison of Obturator Nerve Blockade and Neuromuscular Blockade for the Prevention of Adductor Spasm in Patients Undergoing Transurethral Resection of Bladder Tumors. Completed NCT03063255 Phase 4 Obturator block;Neuromuscular block
4 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
5 The Therapeutic Role of Albumin Supply on Peptic Ulcer Bleeding and the Correlation Between Clinical Course and Expression of Serum Response Factor on Ulcer Tissue and Superoxide Free Radical in Blood Completed NCT01822600 Phase 4 Human albumin;Omeprazole
6 Topical Nitroglycerine Treatment for Radial Artery Spasm Prevention Completed NCT02832115 Phase 4 Topical Nitroglycerine;Topical Lidocaine
7 Efficacy Of Nebulised Beclometasone Versus Placebo In Preventing Viral Wheezing In Pre-School Children Completed NCT01265342 Phase 4 Beclomethasone;Placebo
8 Flexeril� (Cyclobenzaprine Hydrochloride) Community Based Study - An Evaluation of Cyclobenzaprine HCl Monotherapy and in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4 cyclobenzaprine hydrochloride
9 The Effect of Nebivolol in Hypertensive Patients With Coronary Arterial Spasm Completed NCT03930433 Phase 4 Nebivolol;Diltiazem;Nebivolol+Diltiazem
10 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
11 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
12 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
13 Effect of Codeine on Pharyngeal and Esophageal Motility in Healthy Subjects: a Double-blind, Placebo-controlled, Randomized, Cross-over Study Completed NCT03784105 Phase 4 Codeine Phosphate;Siripus simplex
14 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
15 Effectiveness of Ipratropium Bromide in Preventing Exercise-induced Bronchoconstriction in Athletes Completed NCT01691079 Phase 4 ipratropium bromide;Placebo
16 "Pretreatment With Albuterol vs. Montelukast in Exercise Induced Bronchospasm in Children." Completed NCT00273689 Phase 4 montelukast vs pretreatment with albuterol;montelukast
17 A Stratified, Multicenter, Randomized, Double-Blind, Parallel Group, 4-Week Comparison of Fluticasone Propionate/Salmeterol DISKUS Combination Product 100/50mcg BID Versus Fluticasone Propionate DISKUS 100mcg BID in Pediatric and Adolescent Subjects With Activity-Induced Bronchospasm Completed NCT00118716 Phase 4 Fluticasone propionate/salmeterol;Fluticasone Propionate
18 A Stratified, Multicenter, Randomized, Double-Blind, Parallel Group, 4-Week Comparison of Fluticasone Propionate/Salmeterol DISKUS Combination Product 100/50mcg BID Versus Fluticasone Propionate DISKUS 100mcg BID in Pediatric and Adolescent Subjects With Activity-Induced Bronchospasm Completed NCT00118690 Phase 4 Fluticasone propionate/salmeterol
19 Combivent vs. Salbutamol in Patients With Metacholine Induced Bronchospasm Completed NCT02182713 Phase 4 Salbutamol sulfate/Ipratropium bromide;Salbutamol
20 Comparison of Temporomandibular Joint Arthroscopy With Botulinum Toxin Injection Versus Placebo: a Randomized Clinical Trial Recruiting NCT04810429 Phase 4 Incobotulinumoxin A
21 A Randomized Comparison of Nitroglycerin Versus Placebo as Spasmolytic Regimen to Prevent Moderate to Severe Radial Artery Spasm in Radial Center Recruiting NCT03889470 Phase 4 NTG 1 MG/ML Injectable Solution
22 Asthma and Childhood Obesity: Understanding Potential Mechanisms and Identifying Strategies to Improve Respiratory Symptoms Recruiting NCT03586544 Phase 4 Albuterol
23 Ropinirole for the Treatment of Muscle Cramps in Patients With Cirrhosis Enrolling by invitation NCT03176966 Phase 4 Vitamin E;Ropinirole
24 Efficacy of Prothrombin Complex Concentrate Reducing Perioperative Blood Loss in Cardiac Surgery, Compared With Fresh Frozen Plasma: Study Protocol for a Non-inferiority, Randomized Controlled Trial Not yet recruiting NCT04244981 Phase 4 Prothrombin Complex Concentrate, Human;Fresh Frozen Plasma
25 Effectiveness of Intravenous Immunoglobulins (IVIG) in Toxic Shock Syndromes in Children: a Multicentre European Randomized Controlled Trial Not yet recruiting NCT02899702 Phase 4 PRIVIGEN (CSL Behring);Albumin
26 Eliminating Use of Non Depolarizing Neuromuscular Blocking Agents to Reduce Postoperative Pulmonary Complications: A Multi-center, Randomized Control Trial Suspended NCT03962725 Phase 4 Neuromuscular Blocking Agents;Anesthetic Adjuncts
27 Timing of B and O Suppositories to Help Relieve Post-operative Bladder Spasms and Urinary Discomfort in Patients Undergoing Lithotripsy Terminated NCT02865395 Phase 4 Belladonna and Opium Suppository
28 Magnesium Oxide Monohydrate for Nocturnal Leg Cramps (MgNLC); a Prospective, Randomized, Double Blind, Placebo Controlled Clinical Trial. Terminated NCT01709968 Phase 4 MAGNOX 520®;placebo
29 Comparison of Solid-State Esophageal Manometry and Water Perfused Anorectal Manometry Catheters With Air Filled Multi-Balloon Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
30 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
31 Methocarbamol in Treatment of Muscle Cramps in Cirrhotic Patients Unknown status NCT02642874 Phase 3 Methocarbamol;Calcium Carbonate
32 Cyclobenzaprine Treatment for Muscle Cramps in Cirrhotic Patients Unknown status NCT02642861 Phase 3 Cyclobenzaprine;Calcium Carbonate
33 Ketamine Efficacy for Acute Severe Bronchospasm in Mechanically Ventilated-critically Ill Patients: a Randomized Controlled Trial Unknown status NCT03000413 Phase 2, Phase 3 Ketamine;Fentanyl
34 Open Label Randomized Study of Thymoglobulin Versus Daclizumab Induction Therapies for the Reduction of Acute Rejection in Live Donor Kidney Transplant Recipients With a Positive Crossmatch Completed NCT00275509 Phase 3 Thymoglobulin;Daclizumab;Mycophenolate mofetil;Tacrolimus;Dexamethasone;Prednisone;Cytogam
35 Use of 2-octylcyanoacrylate for Closure Urethrocutaneous Fistulas After Urethroplasty for Hypospadias Completed NCT02115191 Phase 3
36 A Phase III, Multicentre, Randomised, Assessor-blind, Parallel Groups, Reference Drug Controlled Study to Assess the Efficacy and Safety of a Single Administration, by Subcutaneous Injection of Dysport® for the Treatment of Hemifacial Spasm Completed NCT00276315 Phase 3
37 A Pilot Study on the Effect of Privigen Against Graft Loss: Interventional Study of Kidney Transplant Recipients at Risk for Graft Loss Through Antibody-mediated Rejection Completed NCT02374736 Phase 3 Privigen (Human normal immunoglobulin G (IgG > 98 % purity))
38 Evaluation of Efficacy and Tolerability of a Fixed Dose Combination of Eperisone Hydrochloride and Diclofenac Sodium in the Treatment of Acute Musculoskeletal Spasm Associated With Low Back Pain: An Observer Blind, Prospective, Randomized, Controlled Study Completed NCT01300312 Phase 3 Eperisone hydrochloride and Diclofenac sodium;Eperisone hydrochloride
39 Evaluation of Eperisone HCl in the Treatment of Acute Musculoskeletal Spasm Associated With Low Back Pain Completed NCT00327730 Phase 3 Eperisone
40 Randomized, Double-Blind, Double-Dummy Trial of Two Sustained Release Formulations of Carisoprodol Compared to Placebo in Subjects With Acute, Painful, Musculoskeletal Spasm of the Lower Back Completed NCT00671879 Phase 3 Carisoprodol SR 700 mg;Carisoprodol SR 500 mg;Placebo
41 Randomized, Double-Blind, Double-Dummy Trial of Two Sustained Release Formulations of Carisoprodol Compared to Placebo in Subjects With Acute, Painful, Musculoskeletal Spasm of the Lower Back Completed NCT00671502 Phase 3 Carisoprodol SR;Carisoprodol SR;Placebo
42 A Randomized, Double-blind, Independent 3rd Party Unblind, Active-controlled, Parallel-group, Multi-center Trial, in Contrast With Anisodamine (654-II), 10mg, to Evaluate the Efficacy and Safety of Buscopan® Solution for Injection, 20mg (Intramuscularly) for the Treatment of Acute Gastric or Intestinal Spasm-like Pain Completed NCT01929044 Phase 3 654-II (anisodamine);Buscopan® (hyoscine butylbromide)
43 A Randomized, Double-blind, Double-dummy, Active-controlled, Parallel-group, Multi-center Trial, in Contrast With Hyoscine Butylbromide Capsule 10mg, to Evaluate the Efficacy and Safety of Hyoscine Butylbromide Tablets 10 mg (20mg, 3 Times Daily, Orally) Over a Period of 3 Days for the Treatment of Occasional or Recurrent Episodes of Self-reported Gastric or Intestinal Spasm-like Pain Completed NCT02242305 Phase 3 Hyoscine Butylbromide - Tablet;Hyoscine Butylbromide - Capsule;Placebo
44 Randomized Trial of High Dose (4mg/kg) Versus Usual Dose (2mg/kg) Oral Prednisolone in the Treatment of Infantile Spasms. Completed NCT01575639 Phase 3 Oral prednisolone
45 Efficacy and Tolerability of the Modified Atkins Diet in Patients With Infantile Spasms: a Pilot Study. Completed NCT01006811 Phase 2, Phase 3
46 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Completed NCT02953548 Phase 3 GWP42003-P
47 Addition of Pyridoxine to Prednisolone in the Treatment of Infantile Spasms: A Randomized Controlled Trial Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
48 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Completed NCT02954887 Phase 3 GWP42003-P
49 A Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Multicenter Trial to Study the Efficacy and Safety of Cyclobenzaprine HCl Extended Release (CER) 15 mg in Subjects With Acute Cervical and/or Lower Back Pain Due to Muscle Spasms of Local Origin Completed NCT02814565 Phase 3 Cyclobenzaprine HCl;Placebo
50 Phase III Study of L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Patients With Gastrointestinal Stromal Tumors (GISTs) (Single-center Study) Completed NCT03426722 Phase 3 L-carnitine;Placebo

Search NIH Clinical Center for Behr Syndrome

Cochrane evidence based reviews: spasm

Genetic Tests for Behr Syndrome

Genetic tests related to Behr Syndrome:

# Genetic test Affiliating Genes
1 Abortive Cerebellar Ataxia 29 OPA1

Anatomical Context for Behr Syndrome

MalaCards organs/tissues related to Behr Syndrome:

Heart, Brain, Eye, Spinal Cord, Kidney, Liver, Skin

Publications for Behr Syndrome

Articles related to Behr Syndrome:

(show all 30)
# Title Authors PMID Year
'Behr syndrome' with OPA1 compound heterozygote mutations. 61 57 6
25146916 2015
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 57 6 61
25012220 2014
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. 6 57
21636302 2011
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 61 57
25012222 2014
Musculoskeletal deformities in Behr syndrome. 57 61
11433166 2001
Behr syndrome. 57 61
7538304 1995
Behr syndrome: a clinicopathologic report. 57 61
571977 1979
Behr syndrome with homozygous C19ORF12 mutation. 20 61
26187298 2015
Multi-system neurological disease is common in patients with OPA1 mutations. 57
20157015 2010
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. 6
17722006 2008
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. 6
11440989 2001
[Behr's syndrome. a report of seven cases]. 57
11391506 2001
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 6
11017079 2000
Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. 6
9917792 1999
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. 6
9490303 1998
Behr's syndrome. A family exhibiting pseudodominant inheritance. 57
6747661 1984
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. 61
32656641 2020
Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report. 61
32883255 2020
Metabolic stroke in a patient with bi-allelic OPA1 mutations. 61
30972688 2019
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. 61
28442211 2017
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). 61
27879217 2016
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 61
27150940 2016
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations. 61
25146915 2015
Heterozygous OPA1 mutations in Behr syndrome. 61
21112924 2011
Familial Behr syndrome-like phenotype with autosomal dominant inheritance. 61
17977780 2008
Behr syndrome variant with tremor treated by VIM stimulation. 61
15770348 2005
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. 61
15924081 2005
[Behr syndrome and hypergonadotropic hypogonadism]. 61
12049713 2002
[Optic atrophy, Behr syndrome]. 61
11528796 2001
MRI abnormalities in Behr syndrome. 61
8060430 1994

Variations for Behr Syndrome

ClinVar genetic disease variations for Behr Syndrome:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA1 NM_015560.2(OPA1):c.1204G>A (p.Val402Met) SNV Pathogenic 225122 rs879255594 GRCh37: 3:193361225-193361225
GRCh38: 3:193643436-193643436
2 OPA1 NM_015560.2(OPA1):c.1705+1G>T SNV Pathogenic 225123 rs879255595 GRCh37: 3:193364970-193364970
GRCh38: 3:193647181-193647181
3 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAG Deletion Pathogenic 5082 rs80356530 GRCh37: 3:193384957-193384960
GRCh38: 3:193667168-193667171
4 OPA1 NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) SNV Pathogenic 225121 rs879255593 GRCh37: 3:193380725-193380725
GRCh38: 3:193662936-193662936
5 OPA1 NM_130837.3(OPA1):c.2287del (p.Ser763fs) Deletion Pathogenic 973235 GRCh37: 3:193374975-193374975
GRCh38: 3:193657186-193657186
6 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) SNV Likely pathogenic 50866 rs143319805 GRCh37: 3:193361167-193361167
GRCh38: 3:193643378-193643378
7 OPA1 NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter) SNV Likely pathogenic 930410 GRCh37: 3:193377319-193377319
GRCh38: 3:193659530-193659530
8 OPA1 NM_130837.3(OPA1):c.1626A>G (p.Glu542=) SNV Uncertain significance 930477 GRCh37: 3:193363359-193363359
GRCh38: 3:193645570-193645570
9 OPA1 NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu) SNV Uncertain significance 930631 GRCh37: 3:193364910-193364910
GRCh38: 3:193647121-193647121
10 OPA1 NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) SNV Uncertain significance 502104 rs749063844 GRCh37: 3:193332724-193332724
GRCh38: 3:193614935-193614935
11 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 GRCh37: 3:193332587-193332604
GRCh38: 3:193614798-193614815
12 OPA1-AS1 , OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) SNV Uncertain significance 344482 rs200243596 GRCh37: 3:193336700-193336700
GRCh38: 3:193618911-193618911
13 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) SNV Uncertain significance 50866 rs143319805 GRCh37: 3:193361167-193361167
GRCh38: 3:193643378-193643378
14 OPA1 NM_130837.3(OPA1):c.861C>G (p.Ile287Met) SNV Uncertain significance 997638 GRCh37: 3:193353224-193353224
GRCh38: 3:193635435-193635435
15 OPA1 NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly) SNV Likely benign 931270 GRCh37: 3:193385010-193385010
GRCh38: 3:193667221-193667221

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

# Symbol AA change Variation ID SNP ID
1 OPA1 p.Ile382Met VAR_060837 rs143319805
2 OPA1 p.Glu487Lys VAR_060847
3 OPA1 p.Val402Met VAR_075903 rs879255594

Expression for Behr Syndrome

Search GEO for disease gene expression data for Behr Syndrome.

Pathways for Behr Syndrome

GO Terms for Behr Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 9.43 SLC25A46 OPA1 MFN2
2 mitochondrial membrane GO:0031966 9.33 OPA1 HIGD1A C19orf12
3 axon cytoplasm GO:1904115 9.32 SPG7 OPA1
4 mitochondrion GO:0005739 9.28 TMEM126A SPG7 SLC25A46 OPA3 OPA1 MTRFR
5 mitochondrial inner membrane GO:0005743 9.26 TMEM126A SPG7 OPA1 HIGD1A

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.13 VPS13D SPG7 OPA1
2 mitochondrial fusion GO:0008053 8.8 SPG7 OPA1 MFN2

Sources for Behr Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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