BEHRS
MCID: BHR001
MIFTS: 47

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 75 53 74 72
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 57 74
Obsolete: Behr Syndrome 53 59
Behrs 57 74
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 53
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 74
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 53
Syndrome, Behr 40
Spasm 44

Characteristics:

Orphanet epidemiological data:

59
obsolete: behr syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
behr syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 210000
Orphanet 59 ORPHA1239
MedGen 42 C0221061
UMLS 72 C0221061

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)

MalaCards based summary : Behr Syndrome, also known as optic atrophy, infantile hereditary, with neurologic abnormalities, is related to 3-methylglutaconic aciduria, type iii and optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, 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 spinal cord, testes and liver, and related phenotypes are nystagmus and intellectual disability

NIH Rare Diseases : 53 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 : 74 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 : 75 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 1127)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 30.1 OPA3 OPA1 C19orf12 C12orf65
2 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 29.5 OPA3 OPA1
3 mitochondrial metabolism disease 28.7 OPA1 C12orf65
4 optic nerve disease 28.1 OPA3 OPA1 C12orf65
5 hemifacial spasm, familial 12.6
6 hemifacial spasm 12.6
7 accommodative spasm 12.6
8 anal spasm 12.5
9 west syndrome 12.4
10 infantile spasms broad thumbs 12.4
11 dwarfism, familial, with muscle spasms 12.3
12 cryptogenic late-onset epileptic spasms 12.3
13 facial spasm 12.3
14 epileptic encephalopathy, early infantile, 1 12.3
15 corpus callosum dysgenesis cleft spasm 12.1
16 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.1
17 blepharospasm, benign essential 12.1
18 epileptic encephalopathy, early infantile, 2 12.1
19 satoyoshi syndrome 12.0
20 aicardi syndrome 12.0
21 angina pectoris 11.8
22 epileptic encephalopathy, early infantile, 15 11.8
23 levator syndrome 11.7
24 coronary artery vasospasm 11.6
25 stiff-person syndrome 11.6
26 blepharospasm 11.5
27 dyskinesia of esophagus 11.5
28 spasmus nutans 11.5
29 early infantile epileptic encephalopathy 11.4
30 myocardial infarction 11.4
31 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
32 epilepsy 11.4
33 myoclonus 11.4
34 lissencephaly 11.4
35 trigeminal neuralgia 11.4
36 seizure disorder 11.4
37 lissencephaly 1 11.3
38 epileptic encephalopathy, early infantile, 3 11.3
39 dystonia 11.3
40 neurodegeneration with brain iron accumulation 5 11.3
41 hypomagnesemia 1, intestinal 11.3
42 pachygyria 11.2
43 ohtahara syndrome 11.2
44 lymphatic malformation 5 11.2
45 dystonia, focal, task-specific 11.2
46 jackhammer esophagus 11.2
47 raynaud phenomenon 11.2
48 porencephaly 11.2
49 stxbp1 encephalopathy with epilepsy 11.2
50 hypertonia 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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 gait disturbance 32 HP:0001288
4 tremor 32 HP:0001337
5 hyperreflexia 32 HP:0001347
6 optic atrophy 32 HP:0000648
7 progressive visual loss 32 HP:0000529
8 babinski sign 32 HP:0003487
9 dysmetria 32 HP:0001310
10 achilles tendon contracture 32 HP:0001771
11 motor delay 32 HP:0001270
12 cerebellar atrophy 32 HP:0001272
13 progressive spasticity 32 HP:0002191
14 hamstring contractures 32 HP:0003089
15 adductor longus contractures 32 HP:0006366

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
progressive visual loss

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

Neurologic Central Nervous System:
tremor
hyperreflexia
dysmetria
cerebellar atrophy
delayed motor development
more
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 443)
# 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
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
4
Etomidate Approved Phase 4 33125-97-2 36339 667484
5
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
6
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
7
Verapamil Approved Phase 4 52-53-9 2520
8
Ipratropium Approved, Experimental Phase 4 60205-81-4, 22254-24-6 657309 43232
9
Ondansetron Approved Phase 4 99614-02-5 4595
10
Morphine Approved, Investigational Phase 4 57-27-2 5288826
11
Montelukast Approved Phase 4 158966-92-8 5281040
12
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
13
Codeine Approved, Illicit Phase 4 76-57-3 5284371
14
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
15
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
16
Propranolol Approved, Investigational Phase 4 525-66-6 4946
17
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
18
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
19
Secretin Approved Phase 4 108153-74-8
20
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
21
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
22
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
23
Atorvastatin Approved Phase 4 134523-00-5 60823
24
Ethanol Approved Phase 4 64-17-5 702
25
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
26
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
27
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
28
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
29
Metronidazole Approved Phase 4 443-48-1 4173
30
Chlorzoxazone Approved Phase 4 95-25-0 2733
31
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
32
Ropinirole Approved, Investigational Phase 4 91374-21-9, 91374-20-8 5095 497540
33
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
34
Baclofen Approved Phase 4 1134-47-0 2284
35
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
36
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
37
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
38
Papaverine Approved, Investigational Phase 4 58-74-2, 61-25-6 4680
39
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
40
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
41
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
42
Remifentanil Approved Phase 4 132875-61-7 60815
43
Succinylcholine Approved Phase 4 306-40-1 5314
44
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
45
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
46
Ephedrine Approved Phase 4 299-42-3 9294
47
Pseudoephedrine Approved Phase 4 90-82-4 7028
48
tannic acid Approved Phase 4 1401-55-4
49
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
50
Magnesium oxide Approved Phase 4 1309-48-4 14792

Interventional clinical trials:

(show top 50) (show all 458)
# Name Status NCT ID Phase Drugs
1 Efficacy Study of Atorvastatin to Treat Variant Angina Unknown status NCT00620204 Phase 4 atorvastatin
2 Clinical Efficacy of Changing the InterStim® Parameters in Patients With Interstitial Cystitis/Painful Bladder Syndrome Unknown status NCT01312259 Phase 4
3 Comparison of Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Undergoing PPCI Evaluated by SPECT Unknown status NCT02233790 Phase 4 Ticagrelor;Clopidogrel
4 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
5 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
6 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
7 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
8 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
9 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
10 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
11 A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY ON MAGNETIC FIELD THERAPY TO IMPROVE CHRONIC LUMBAR PAIN Unknown status NCT00407615 Phase 4
12 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
13 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
14 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
15 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
16 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
17 Combivent vs. Salbutamol in Patients With Metacholine Induced Bronchospasm Completed NCT02182713 Phase 4 Salbutamol sulfate/Ipratropium bromide;Salbutamol
18 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
19 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
20 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
21 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
22 Comparison of VERapamil vs. Heparin Therapy on Procedural sUccess During Transradial Coronary Procedures (VERMUT Study) Completed NCT02454491 Phase 4 Heparin;Verapamil
23 Randomized Clinical Trial of Oral Hyoscine Butyl Bromide in Reducing Pain During HSG Completed NCT02709603 Phase 4 hyoscine butyl bromide;placebo
24 Efficacy Of Nebulised Beclometasone Versus Placebo In Preventing Viral Wheezing In Pre-School Children Completed NCT01265342 Phase 4 Beclomethasone;Placebo
25 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
26 Prospective, Randomized Clinical Pilot Study: Oral Opiate Targin In Treatment Of Postoperative Pain After Major Cardiac Surgery Completed NCT01816581 Phase 4 Targin;Oxynorm;Morphine
27 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
28 Effectiveness of Ipratropium Bromide in Preventing Exercise-induced Bronchoconstriction in Athletes Completed NCT01691079 Phase 4 ipratropium bromide;Placebo
29 The Effects on Airway Reactivity of the Use of Preoperative Montelukast Sodium Completed NCT02494466 Phase 4 montelukast sodium
30 The Effect of Nebivolol in Hypertensive Patients With Coronary Arterial Spasm Completed NCT03930433 Phase 4 Nebivolol;Diltiazem;Nebivolol+Diltiazem
31 "Pretreatment With Albuterol vs. Montelukast in Exercise Induced Bronchospasm in Children." Completed NCT00273689 Phase 4 montelukast vs pretreatment with albuterol;montelukast
32 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
33 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
34 Botox (Botulinum Toxin A) as a Treatment for Interstitial Cystitis in Women: A Randomized Placebo Controlled Trial Completed NCT00194610 Phase 4 Botox
35 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
36 Phase 4 Study of Oxytocin Used During Cesarean Section Completed NCT00777166 Phase 4 oxytocin;oxytocin
37 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
38 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
39 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
40 Effect of Topical Anesthesia on Patient's Pain Discomfort and Radial Artery Spasm in Transradial Catheterization Recruiting NCT03501212 Phase 4 Topical Anesthetic;Placebo
41 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
42 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
43 Topical Nitroglycerine Treatment for Radial Artery Spasm Prevention Recruiting NCT02832115 Phase 4 Topical Nitroglycerine;Topical Lidocaine
44 Subcutaneous Administration of Nitroglycerin to Facilitate Trans-radial Access in Coronary Procedures: a Randomized Clinical Trial (NITRAD-Sub Study). Recruiting NCT03304496 Phase 4 Nitroglycerin 100 MCG/ML Injectable Solution;Saline Solution
45 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
46 Anesthetic Ointment vs Local Injectable Anesthetic in Trans-radial Cardiac Catheterization: The RAOLA Study Recruiting NCT03072394 Phase 4 Local anesthetic;local anaesthetic injection
47 A Prospective, Multicentre, Double-Blinded Randomised Controlled Trial Comparing Topical Versus Oral Metronidazole in Reducing Post-Operative Pain Following Excisional Haemorrhoidectomy Recruiting NCT03343509 Phase 4 Metronidazole Oral;Metronidazole Ointment;Placebo Oral Tablet;Placebo Ointment
48 Asthma and Childhood Obesity: Understanding Potential Mechanisms and Identifying Strategies to Improve Respiratory Symptoms Recruiting NCT03586544 Phase 4 Albuterol
49 Effect of Gradual Reperfusion on Myocardial Edema and Coronary Microvascular Integrity in Patients Undergoing Primary Percutaneous Coronary Intervention Recruiting NCT02732080 Phase 4
50 Adhesive Capsulitis: Prospective Analysis of Efficacy and Financial Impact for Use of Physical Therapy in Treatment Recruiting NCT02283996 Phase 4 Depot Methylprednisolone

Search NIH Clinical Center for Behr Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Atropine
Lorazepam
Methocarbamol
Orphenadrine
Ox bile extract

Cochrane evidence based reviews: spasm

Genetic Tests for Behr Syndrome

Anatomical Context for Behr Syndrome

MalaCards organs/tissues related to Behr Syndrome:

41
Spinal Cord, Testes, Liver, Endothelial, Heart, Prostate, Bone

Publications for Behr Syndrome

Articles related to Behr Syndrome:

(show all 29)
# Title Authors PMID Year
1
'Behr syndrome' with OPA1 compound heterozygote mutations. 38 8 71
25146916 2015
2
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 38 8 71
25012220 2014
3
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. 8 71
21636302 2011
4
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 38 8
25012222 2014
5
Musculoskeletal deformities in Behr syndrome. 38 8
11433166 2001
6
Behr syndrome. 38 8
7538304 1995
7
Behr syndrome: a clinicopathologic report. 38 8
571977 1979
8
Mitochondrial DNA Maintenance Defects Overview 71
29517884 2018
9
Behr syndrome with homozygous C19ORF12 mutation. 38 6
26187298 2015
10
Multi-system neurological disease is common in patients with OPA1 mutations. 8
20157015 2010
11
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. 71
17722006 2008
12
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. 71
11440989 2001
13
[Behr's syndrome. a report of seven cases]. 8
11391506 2001
14
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 71
11017079 2000
15
Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. 71
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. 71
9490303 1998
17
Behr's syndrome. A family exhibiting pseudodominant inheritance. 8
6747661 1984
18
Metabolic stroke in a patient with bi-allelic OPA1 mutations. 38
30972688 2019
19
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. 38
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). 38
27879217 2016
21
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 38
27150940 2016
22
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations. 38
25146915 2015
23
Heterozygous OPA1 mutations in Behr syndrome. 38
21112924 2011
24
Familial Behr syndrome-like phenotype with autosomal dominant inheritance. 38
17977780 2008
25
Behr syndrome variant with tremor treated by VIM stimulation. 38
15770348 2005
26
[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. 38
15924081 2005
27
[Behr syndrome and hypergonadotropic hypogonadism]. 38
12049713 2002
28
[Optic atrophy, Behr syndrome]. 38
11528796 2001
29
MRI abnormalities in Behr syndrome. 38
8060430 1994

Variations for Behr Syndrome

ClinVar genetic disease variations for Behr Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OPA1 NM_015560.2(OPA1): c.2470C> T (p.Arg824Ter) single nucleotide variant Pathogenic rs879255593 3:193380725-193380725 3:193662936-193662936
2 OPA1 NM_015560.2(OPA1): c.1204G> A (p.Val402Met) single nucleotide variant Pathogenic rs879255594 3:193361225-193361225 3:193643436-193643436
3 OPA1 NM_015560.2(OPA1): c.1705+1G> T single nucleotide variant Pathogenic rs879255595 3:193364970-193364970 3:193647181-193647181
4 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 3:193384959-193384962 3:193667170-193667173
5 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 3:193361167-193361167 3:193643378-193643378
6 OPA1 NM_015560.2(OPA1): c.599C> T (p.Ser200Phe) single nucleotide variant Uncertain significance rs200243596 3:193336700-193336700 3:193618911-193618911

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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