BEHRS
MCID: BHR001
MIFTS: 49

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 56 12 74 52 73 43 71
Abortive Cerebellar Ataxia 12 29 6
Behrs 56 12 73
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 12 52
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 56 73
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 12 52
Obsolete: Behr Syndrome 52 58
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 73
Syndrome, Behr 39
Spasm 43

Characteristics:

Orphanet epidemiological data:

58
obsolete: behr syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
behr syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Behr Syndrome

OMIM : 56 '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)

MalaCards based summary : Behr Syndrome, also known as abortive cerebellar ataxia, is related to 3-methylglutaconic aciduria, type iii and peripheral nervous system disease, and has symptoms including ataxia, tremor and spasm. An important gene associated with Behr Syndrome is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). The drugs Ticagrelor and Tamsulosin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, 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.

NIH Rare Diseases : 52 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 : 73 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 : 74 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 1117)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 31.5 OPA3 OPA1 C12orf65
2 peripheral nervous system disease 29.4 OPA3 OPA1
3 paraplegia 29.0 C19orf12 C12orf65
4 mitochondrial metabolism disease 28.7 OPA3 OPA1 C12orf65
5 cranial nerve disease 28.5 OPA3 OPA1 C12orf65
6 optic nerve disease 27.6 OPA3 OPA1 C19orf12 C12orf65
7 hemifacial spasm, familial 12.7
8 hemifacial spasm 12.6
9 accommodative spasm 12.6
10 anal spasm 12.5
11 west syndrome 12.5
12 infantile spasms broad thumbs 12.4
13 dwarfism, familial, with muscle spasms 12.4
14 cryptogenic late-onset epileptic spasms 12.3
15 facial spasm 12.3
16 epileptic encephalopathy, early infantile, 1 12.3
17 corpus callosum dysgenesis cleft spasm 12.1
18 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.1
19 epileptic encephalopathy, early infantile, 2 12.1
20 blepharospasm, benign essential 12.1
21 satoyoshi syndrome 12.0
22 aicardi syndrome 12.0
23 angina pectoris 11.8
24 epileptic encephalopathy, early infantile, 15 11.8
25 levator syndrome 11.7
26 coronary artery vasospasm 11.7
27 stiff-person syndrome 11.6
28 blepharospasm 11.5
29 dyskinesia of esophagus 11.5
30 spasmus nutans 11.5
31 early infantile epileptic encephalopathy 11.4
32 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
33 myocardial infarction 11.4
34 epilepsy 11.4
35 myoclonus 11.4
36 lissencephaly 11.4
37 trigeminal neuralgia 11.4
38 seizure disorder 11.4
39 dystonia 11.3
40 lissencephaly 1 11.3
41 epileptic encephalopathy, early infantile, 3 11.3
42 neurodegeneration with brain iron accumulation 5 11.3
43 hypomagnesemia 1, intestinal 11.3
44 pachygyria 11.2
45 ohtahara syndrome 11.2
46 lymphatic malformation 5 11.2
47 dystonia, focal, task-specific 11.2
48 jackhammer esophagus 11.2
49 raynaud phenomenon 11.2
50 porencephaly 11.2

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 babinski sign 31 HP:0003487
9 dysmetria 31 HP:0001310
10 achilles tendon contracture 31 HP:0001771
11 motor delay 31 HP:0001270
12 cerebellar atrophy 31 HP:0001272
13 progressive spasticity 31 HP:0002191
14 hamstring contractures 31 HP:0003089
15 adductor longus contractures 31 HP:0006366

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
tremor
dysmetria
cerebellar atrophy
delayed motor development
more
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:
nystagmus
optic atrophy
progressive visual loss

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy

Clinical features from OMIM:

210000

UMLS symptoms related to Behr Syndrome:


ataxia, tremor, spasm, abnormal pyramidal signs

Drugs & Therapeutics for Behr Syndrome

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

(show top 50) (show all 414)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 4 274693-27-5 9871419
2
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
3
Etomidate Approved Phase 4 33125-97-2 36339 667484
4
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
5
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
6
Cyclobenzaprine Approved Phase 4 303-53-7 2895
7
Amitriptyline Approved Phase 4 50-48-6 2160
8
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
9
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
10
Verapamil Approved Phase 4 52-53-9 2520
11
Ipratropium Approved, Experimental Phase 4 22254-24-6, 60205-81-4 43232 657309
12
Ethanol Approved Phase 4 64-17-5 702
13
Ondansetron Approved Phase 4 99614-02-5 4595
14
Chlorzoxazone Approved Phase 4 95-25-0 2733
15
Morphine Approved, Investigational Phase 4 57-27-2 5288826
16
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
17
Montelukast Approved Phase 4 158966-92-8 5281040
18
Codeine Approved, Illicit Phase 4 76-57-3 5284371
19
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
20
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
21
Propranolol Approved, Investigational Phase 4 525-66-6 4946
22
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
23
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
24
Secretin Approved Phase 4 108153-74-8
25
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
26
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
27
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
28
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
29
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
30
Atorvastatin Approved Phase 4 134523-00-5 60823
31
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
32
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
33
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
34
Remifentanil Approved Phase 4 132875-61-7 60815
35
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
36
Succinylcholine Approved Phase 4 306-40-1 5314
37
Metronidazole Approved Phase 4 443-48-1 4173
38
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
39
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
40
Baclofen Approved Phase 4 1134-47-0 2284
41
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
42
Papaverine Approved, Investigational Phase 4 58-74-2, 61-25-6 4680
43
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
44
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
45
Pseudoephedrine Approved Phase 4 90-82-4 7028
46
Ephedrine Approved Phase 4 299-42-3 9294
47
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
48
tannic acid Approved Phase 4 1401-55-4
49
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
50
Magnesium oxide Approved Phase 4 1309-48-4 14792

Interventional clinical trials:

(show top 50) (show all 476)
# Name Status NCT ID Phase Drugs
1 Subcutaneous Administration of Nitroglycerin to Facilitate Trans-radial Access in Coronary Procedures: a Randomized Clinical Trial (NITRAD-Sub Study). Unknown status NCT03304496 Phase 4 Nitroglycerin 100 MCG/ML Injectable Solution;Saline Solution
2 Efficacy Study of Atorvastatin to Treat Variant Angina Unknown status NCT00620204 Phase 4 atorvastatin
3 Clinical Efficacy of Changing the InterStim® Parameters in Patients With Interstitial Cystitis/Painful Bladder Syndrome Unknown status NCT01312259 Phase 4
4 Comparison of Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Undergoing PPCI Evaluated by SPECT Unknown status NCT02233790 Phase 4 Ticagrelor;Clopidogrel
5 An Eight Week, Double-Blind Efficacy Study of Cyclobenzaprine ER (Amrix TM) Augmentation to Alleviate Fibromyalgia Fatigue and Muscle Pain Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
6 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
7 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
8 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Quality of Sleep and Reduction of Chronic Spine Pain (Sleep/Mag) Unknown status NCT00445133 Phase 4
9 Combined Use of Etomidate and Propofol in Painless Gastroscopy, a Multiple Center, Double Blinded, Randomized,Controled Study. Unknown status NCT01913054 Phase 4 Fentanyl Injection;Etomidate Fat Emulsion Injection;Propofol Injection
10 Effect of Early Administration of Intracoronary Nicorandil Via Thrombus Aspiration Catheter Device During Primary Percutaneous Coronary Intervention for the Patients of Acute ST Segment Elevation Myocardial Infarction Unknown status NCT02435797 Phase 4 Nicorandil;normal saline
11 DOUBLE BLIND, PLACEBO CONTROLLED, RANDOMIZED CLINICAL TRIAL OF THE SAFETY AND EFFICACY OF BOTULINUM TOXIN TYPE A (BOTOX) IN BRUXISM Unknown status NCT00908050 Phase 4 Botulinum toxin type A
12 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
13 Randomized Controlled Trial Comparing the Efficacy of Polyethylene Glycol Alone and Polyethylene Glycol Combined With Topical Diltiazem in Treating Anal fissure in Children Unknown status NCT02419534 Phase 4 Polyethylene glycol;Polyethylene glycol with Diltiazem
14 A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY ON MAGNETIC FIELD THERAPY TO IMPROVE CHRONIC LUMBAR PAIN Unknown status NCT00407615 Phase 4
15 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
16 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
17 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
18 Topical Nitroglycerine Treatment for Radial Artery Spasm Prevention Completed NCT02832115 Phase 4 Topical Nitroglycerine;Topical Lidocaine
19 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
20 Combivent vs. Salbutamol in Patients With Metacholine Induced Bronchospasm Completed NCT02182713 Phase 4 Salbutamol sulfate/Ipratropium bromide;Salbutamol
21 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
22 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
23 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
24 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
25 Comparison of VERapamil vs. Heparin Therapy on Procedural sUccess During Transradial Coronary Procedures (VERMUT Study) Completed NCT02454491 Phase 4 Heparin;Verapamil
26 Randomized Clinical Trial of Oral Hyoscine Butyl Bromide in Reducing Pain During HSG Completed NCT02709603 Phase 4 hyoscine butyl bromide;placebo
27 Efficacy Of Nebulised Beclometasone Versus Placebo In Preventing Viral Wheezing In Pre-School Children Completed NCT01265342 Phase 4 Beclomethasone;Placebo
28 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
29 Prospective, Randomized Clinical Pilot Study: Oral Opiate Targin In Treatment Of Postoperative Pain After Major Cardiac Surgery Completed NCT01816581 Phase 4 Targin;Oxynorm;Morphine
30 Effectiveness of Ipratropium Bromide in Preventing Exercise-induced Bronchoconstriction in Athletes Completed NCT01691079 Phase 4 ipratropium bromide;Placebo
31 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
32 The Effects on Airway Reactivity of the Use of Preoperative Montelukast Sodium Completed NCT02494466 Phase 4 montelukast sodium
33 "Pretreatment With Albuterol vs. Montelukast in Exercise Induced Bronchospasm in Children." Completed NCT00273689 Phase 4 montelukast vs pretreatment with albuterol;montelukast
34 The Effect of Nebivolol in Hypertensive Patients With Coronary Arterial Spasm Completed NCT03930433 Phase 4 Nebivolol;Diltiazem;Nebivolol+Diltiazem
35 Botox (Botulinum Toxin A) as a Treatment for Interstitial Cystitis in Women: A Randomized Placebo Controlled Trial Completed NCT00194610 Phase 4 Botox
36 A Randomised, Double Blind Cross-over Study of Serial MRCP Following Morphine-neostigmine and Secretin Provocation in Healthy Volunteers Completed NCT01134848 Phase 4 Morphine;Neostigmine;0.9% saline;Secretin;0.9% saline
37 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
38 Patient-controlled Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4 Intermittent bolus epidural morphine;continuous epidural morphine
39 A Multicentre Placebo-Controlled Evaluation of Prednisolone and/or Valaciclovir for the Treatment of Bell's Palsy Completed NCT00510263 Phase 4 Prednisolone + placebo;Valaciclovir + placebo;Prednisolone + valaciclovir;Placebo + placebo
40 Phase 4 Study of Oxytocin Used During Cesarean Section Completed NCT00777166 Phase 4 oxytocin;oxytocin
41 Analgetic Effects of Chlorzoxazone in Total Hip and Knee Arthroplasty Completed NCT02405104 Phase 4 chlorzoxazone;Placebo
42 Effects of Esomeprazole on Gastric Emptying of Alcoholic Beverages, Blood Alcohol Concentrations, Gastroesophageal Reflux and Release of Some Gastrointestinal Hormones in Healthy Volunteers Completed NCT00472550 Phase 4 esomeprazole 20 mg
43 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
44 Effect of Topical Anesthesia on Patient's Pain Discomfort and Radial Artery Spasm in Transradial Catheterization Recruiting NCT03501212 Phase 4 Topical Anesthetic;Placebo
45 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 Recruiting NCT01674686 Phase 4 Sarpogrelate;Atorvastatin
46 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
47 A Comparative Efficacy and Safety Study of Lateral Subcutaneous Sphincterotomy and Botulinum Toxin Type A in the Treatment of Chronic Anal Fissure Recruiting NCT03855046 Phase 4 IncobotulinumtoxinA 50 U Intramuscular Powder for Solution
48 Eliminating Use of Non Depolarizing Neuromuscular Blocking Agents to Reduce Postoperative Pulmonary Complications: A Multi-center, Randomized Control Trial Recruiting NCT03962725 Phase 4 Neuromuscular Blocking Agents;Anesthetic Adjuncts
49 Anesthetic Ointment vs Local Injectable Anesthetic in Trans-radial Cardiac Catheterization: The RAOLA Study Recruiting NCT03072394 Phase 4 Local anesthetic;local anaesthetic injection
50 Endothelial Injury Mechanism of Cognitive Decline and Intervention Study in Elderly Patients Undergoing Major Surgery Recruiting NCT03639896 Phase 4 Dexmedetomidine;Saline

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:

40
Brain, Spinal Cord, Heart, Liver, Prostate, Testes, Kidney

Publications for Behr Syndrome

Articles related to Behr Syndrome:

(show all 29)
# Title Authors PMID Year
1
'Behr syndrome' with OPA1 compound heterozygote mutations. 61 56 6
25146916 2015
2
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 61 56 6
25012220 2014
3
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. 56 6
21636302 2011
4
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 61 56
25012222 2014
5
Musculoskeletal deformities in Behr syndrome. 61 56
11433166 2001
6
Behr syndrome. 61 56
7538304 1995
7
Behr syndrome: a clinicopathologic report. 61 56
571977 1979
8
Mitochondrial DNA Maintenance Defects Overview 6
29517884 2018
9
Behr syndrome with homozygous C19ORF12 mutation. 61 52
26187298 2015
10
Multi-system neurological disease is common in patients with OPA1 mutations. 56
20157015 2010
11
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. 6
17722006 2008
12
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. 6
11440989 2001
13
[Behr's syndrome. a report of seven cases]. 56
11391506 2001
14
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 6
11017079 2000
15
Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. 6
9917792 1999
16
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
17
Behr's syndrome. A family exhibiting pseudodominant inheritance. 56
6747661 1984
18
Metabolic stroke in a patient with bi-allelic OPA1 mutations. 61
30972688 2019
19
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. 61
28442211 2017
20
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
21
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 61
27150940 2016
22
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations. 61
25146915 2015
23
Heterozygous OPA1 mutations in Behr syndrome. 61
21112924 2011
24
Familial Behr syndrome-like phenotype with autosomal dominant inheritance. 61
17977780 2008
25
Behr syndrome variant with tremor treated by VIM stimulation. 61
15770348 2005
26
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. 61
15924081 2005
27
[Behr syndrome and hypergonadotropic hypogonadism]. 61
12049713 2002
28
[Optic atrophy, Behr syndrome]. 61
11528796 2001
29
MRI abnormalities in Behr syndrome. 61
8060430 1994

Variations for Behr Syndrome

ClinVar genetic disease variations for Behr Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPA1 NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter)SNV Pathogenic 225121 rs879255593 3:193380725-193380725 3:193662936-193662936
2 OPA1 NM_015560.2(OPA1):c.1204G>A (p.Val402Met)SNV Pathogenic 225122 rs879255594 3:193361225-193361225 3:193643436-193643436
3 OPA1 NM_015560.2(OPA1):c.1705+1G>TSNV Pathogenic 225123 rs879255595 3:193364970-193364970 3:193647181-193647181
4 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAGdeletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171
5 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met)SNV Conflicting interpretations of pathogenicity 50866 rs143319805 3:193361167-193361167 3:193643378-193643378
6 OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe)SNV Uncertain significance 344482 rs200243596 3:193336700-193336700 3:193618911-193618911

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

73
# 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 membrane GO:0031966 8.96 OPA1 C19orf12
2 mitochondrion GO:0005739 8.92 OPA3 OPA1 C19orf12 C12orf65

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.96 OPA3 OPA1
2 mitochondrion morphogenesis GO:0070584 8.62 OPA3 OPA1

Sources for Behr Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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