BEHRS
MCID: BHR001
MIFTS: 42

Behr Syndrome (BEHRS) malady

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

Aliases & Classifications for Behr Syndrome

Aliases & Descriptions for Behr Syndrome:

Name: Behr Syndrome 54 50 56 66 69
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 50
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 66
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 66
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 50
Behrs 66
Spasm 42

Characteristics:

Orphanet epidemiological data:

56
behr syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy;

HPO:

32
behr syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 210000
Orphanet 56 ORPHA1239
MESH via Orphanet 43 C537669
UMLS via Orphanet 70 C0221061
ICD10 via Orphanet 34 H35.5
MedGen 40 C0221061

Summaries for Behr Syndrome

OMIM : 54 'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by... (210000) more...

MalaCards based summary : Behr Syndrome, also known as optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss, is related to hemifacial spasm and accommodative spasm, and has symptoms including ataxia, nystagmus and intellectual disability. An important gene associated with Behr Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye.

NIH Rare Diseases : 50 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. last updated: 6/26/2016

UniProtKB/Swiss-Prot : 66 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 : 71 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 184)
id Related Disease Score Top Affiliating Genes
1 hemifacial spasm 12.2
2 accommodative spasm 12.1
3 hemifacial spasm, familial 12.1
4 anal spasm 12.0
5 west syndrome 11.9
6 infantile epileptic encephalopathy 11.8
7 cryptogenic late-onset epileptic spasms 11.8
8 dwarfism familial with muscle spasms 11.8
9 infantile spasms broad thumbs 11.8
10 magi2-related infantile spasms 11.7
11 corpus callosum dysgenesis cleft spasm 11.7
12 satoyoshi syndrome 11.6
13 aicardi syndrome 11.5
14 blepharospasm, primary benign 11.4
15 epileptic encephalopathy, early infantile, 1 11.4
16 epileptic encephalopathy, early infantile, 2 11.4
17 epileptic encephalopathy, early infantile, 15 11.3
18 levator syndrome 11.3
19 blepharospasm 11.2
20 coronary artery vasospasm 11.2
21 stiff-person syndrome 11.1
22 prinzmetal's variant angina 11.1
23 myopathy 11.1
24 tetanus 11.1
25 epilepsy 11.0
26 spasticity 11.0
27 myoclonus 10.9
28 trigeminal neuralgia 10.9
29 dystonia 10.9
30 3-methylglutaconic aciduria, type iii 10.9
31 hypomagnesemia 1, intestinal 10.9
32 arachnoiditis 10.8
33 angina pectoris 10.8
34 meige syndrome 10.8
35 lissencephaly 10.8
36 pachygyria 10.8
37 spasmodic dysphonia 10.8
38 porencephaly 10.8
39 hydranencephaly 10.8
40 muscular dystrophy 10.8
41 psychogenic movement 10.8
42 tropical spastic paraparesis 10.8
43 retrovirus-associated myelopathy 10.7
44 spasmus nutans 10.7
45 dyskinesia of esophagus 10.7
46 microcephaly, corpus callosum dysgenesis and cleft lip-palate 10.7
47 bronchial disease 10.7
48 hypocalcemia, autosomal dominant 10.6
49 neurodegeneration with brain iron accumulation 1 10.6
50 epileptic encephalopathy, early infantile, 12 10.6

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



Diseases related to Behr Syndrome

Symptoms & Phenotypes for Behr Syndrome

Symptoms by clinical synopsis from OMIM:

210000

Clinical features from OMIM:

210000

Human phenotypes related to Behr Syndrome:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 nystagmus 56 32 Very frequent (99-80%) HP:0000639
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 spasticity 56 32 Very frequent (99-80%) HP:0001257
5 visual impairment 56 32 Frequent (79-30%) HP:0000505
6 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
7 strabismus 56 32 Very frequent (99-80%) HP:0000486
8 abnormality of color vision 56 32 Very frequent (99-80%) HP:0000551
9 gait disturbance 32 HP:0001288
10 hyperreflexia 32 HP:0001347
11 babinski sign 32 HP:0003487
12 cerebellar atrophy 32 HP:0001272
13 progressive spasticity 32 HP:0002191
14 achilles tendon contracture 32 HP:0001771
15 hamstring contractures 32 HP:0003089
16 adductor longus contractures 32 HP:0006366

UMLS symptoms related to Behr Syndrome:


ataxia, spasm, tremor, 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 591)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 2,Phase 3 79902-63-9 54454
2
Benzocaine Approved Phase 4,Phase 1 1994-09-7, 94-09-7 2337
3
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
4
Etomidate Approved Phase 4 33125-97-2 36339 667484
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 437-38-7 3345
6
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 1 59467-70-8 4192
7
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 2078-54-8 4943
8
Remifentanil Approved Phase 4 132875-61-7 60815
9
Amitriptyline Approved Phase 4,Phase 3,Phase 2 50-48-6 2160
10
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
11
Ticagrelor Approved Phase 4 274693-27-5 9871419
12
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
13
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
14
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
15
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
16
Adenosine Approved, Investigational Phase 4 58-61-7 60961
17
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2180-92-9, 38396-39-3 2474
18
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
20
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
21
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 55-63-0 4510
22
Leuprolide Approved, Investigational Phase 4,Phase 3 53714-56-0 3911 657181
23
Ibuprofen Approved Phase 4,Phase 3,Phase 2 15687-27-1 3672
24
Mexiletine Approved Phase 4,Phase 2 31828-71-4 4178
25
Propranolol Approved, Investigational Phase 4 525-66-6 4946
26
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
27
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
28
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
29 Piracetam Approved Phase 4,Phase 2 7491-74-9
30
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
31
Chlorzoxazone Approved Phase 4 95-25-0 2733
32
Morphine Approved, Investigational Phase 4 57-27-2 5288826
33
Ondansetron Approved Phase 4 99614-02-5 4595
34
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
35
Aminophylline Approved Phase 4 317-34-0 9433
36
Regadenoson Approved Phase 4 313348-27-5 219024
37
Ropivacaine Approved Phase 4,Phase 3 84057-95-4 71273 175805
38
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
39
Secretin Approved, Investigational Phase 4 108153-74-8
40
Naloxone Approved, Vet_approved Phase 4,Phase 3 465-65-6 5284596
41
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
42
Piroxicam Approved, Investigational Phase 4 36322-90-4 5280452 54676228
43
Ipratropium Approved Phase 4 22254-24-6, 60205-81-4 43232
44
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
45
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
46
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 1 51-43-4 5816
47
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
48
Nitric Oxide Approved Phase 4 10102-43-9 145068
49
Prilocaine Approved Phase 4 721-50-6 4906
50
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585

Interventional clinical trials:

(show top 50) (show all 578)
id Name Status NCT ID Phase
1 The Effect of Sarpogrelate and High Dose Statin on the Reduction of Coronary Spasm Unknown status NCT01674686 Phase 4
2 Effect of Dexmedetomidine on Levels of Plasma Inflammatory Factor in Asthma Patients Undergoing General Anesthesia Unknown status NCT02289391 Phase 4
3 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
4 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
5 Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Unknown status NCT02233790 Phase 4
6 Combined Use of Etomidate and Propofol in Painless Gastroscopy. Unknown status NCT01913054 Phase 4
7 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4
8 An Effectiveness and Safety Study of Cyclobenzaprine HCl Alone or in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4
9 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4
10 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4
11 Does Oral Magnesium Substitution Relieve Pregnancy Induced Leg Cramps ? Completed NCT00525317 Phase 4
12 Trial Assessing Maternal Post-Partum Pain Completed NCT01271855 Phase 4
13 Levetiracetam in Chronic Neuropathic Pain Following Spinal Cord Injury Completed NCT00252954 Phase 4
14 Efficacy of Nebulised Beclometasone in Viral Wheezing Prophylaxis Completed NCT01265342 Phase 4
15 Tolerability and Satisfaction With Evie Completed NCT01969812 Phase 4
16 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4
17 Preoperative Use of Montelukast Sodium Completed NCT02494466 Phase 4
18 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4
19 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
20 Hyoscine Butyl Bromide in Reducing Pain During HSG Completed NCT02709603 Phase 4
21 Cardiac Effects of Oxytocin Administrated During Cesarean Section, Signs of Myocardial Ischemia Completed NCT00777166 Phase 4
22 Attenuation of the Side Effect Profile of Regadenoson: Study With Aminophylline in Patients Undergoing Myocardial Perfusion Imaging Completed NCT01250496 Phase 4
23 Influence of Epidural Analgesia in Elective Laparoscopic Colorectal Resections Completed NCT00512395 Phase 4
24 Botox as a Treatment for Interstitial Cystitis in Women Completed NCT00194610 Phase 4
25 A Study of Serial Magnetic Resonance Cholangiopancreatography (MRCP) Following Morphine-neostigmine and Secretin Provocation in Healthy Volunteers Completed NCT01134848 Phase 4
26 Oral Oxycodone After Major Cardiac Surgery Completed NCT01816581 Phase 4
27 Efficacy of Banhasasim-tang on Functional Dyspepsia Completed NCT00987805 Phase 4
28 Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4
29 A Double Blind, Double Dummy, Randomized, Comparative Study Of The Efficacy And Safety Of Valdecoxib 40 Mg Twice Daily, As Needed In The First Menstrual Cycle Day And Then Once A Day, And Piroxicam 40 Mg Once A Day In The Treatment Of Patients With Primar Completed NCT00649415 Phase 4
30 Optimal Balloon Catheter Placement During Sonohysterography Completed NCT01936116 Phase 4
31 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
32 Efficacy and Safety of the Use of Venocur Triplex® in Patients With Chronic Venous Insufficiency Completed NCT00835822 Phase 4
33 Combivent vs. Salbutamol in Patients With Metacholine Induced Bronchospasm Completed NCT02182713 Phase 4
34 Immediate Versus Delayed Insertion of the Copper Intrauterine Device (IUD) After Medication Abortion Completed NCT00737178 Phase 4
35 Study Comparing PEG 3350 Laxative to Placebo in the Treatment of Occasional Constipation (Study CL2007-12)(P08216) Completed NCT00770432 Phase 4
36 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4
37 Long-Term Lamivudine Therapy for Chronic Hepatitis B Completed NCT00120354 Phase 4
38 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
39 A Study to Evaluate Safety and Immunogenicity of the Bivalent Killed Whole Cell Oral Cholera Vaccine in Adults and Children Completed NCT00760825 Phase 4
40 Effectiveness of Ipratropium Bromide in Preventing Exercise-induced Bronchoconstriction in Athletes Completed NCT01691079 Phase 4
41 Exercise Induced Bronchospasm in Children Completed NCT00273689 Phase 4
42 A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise Completed NCT00118716 Phase 4
43 A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise Completed NCT00118690 Phase 4
44 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4
45 Analgesic Efficacy of Ultrasound-guided Transverse-abdominal Plain Blockade in Urological Surgery Completed NCT01501565 Phase 4
46 Evaluation of Ureteral Patency in the Post-indigo Carmine Era Completed NCT02677623 Phase 4
47 Levetiracetam in Central Pain in Multiple Sclerosis(MS) Completed NCT00423527 Phase 4
48 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4
49 Scandinavian Bell's Palsy Study Completed NCT00510263 Phase 4
50 Long-term Study of Duodopa (Levodopa/Carbidopa) in Advanced Parkinson's: Health Outcomes & Net Economic Impact Completed NCT00141518 Phase 4

Search NIH Clinical Center for Behr Syndrome

Cochrane evidence based reviews: spasm

Genetic Tests for Behr Syndrome

Anatomical Context for Behr Syndrome

MalaCards organs/tissues related to Behr Syndrome:

39
Eye

Publications for Behr Syndrome

Articles related to Behr Syndrome:

(show all 12)
id Title Authors Year
1
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). ( 27879217 )
2016
2
'Behr syndrome' with OPA1 compound heterozygote mutations. ( 25146916 )
2015
3
Behr syndrome with homozygous C19ORF12 mutation. ( 26187298 )
2015
4
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. ( 25012220 )
2014
5
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. ( 25012222 )
2014
6
Heterozygous OPA1 mutations in Behr syndrome. ( 21112924 )
2011
7
Familial Behr syndrome-like phenotype with autosomal dominant inheritance. ( 17977780 )
2008
8
Behr syndrome variant with tremor treated by VIM stimulation. ( 15770348 )
2005
9
Musculoskeletal deformities in Behr syndrome. ( 11433166 )
2001
10
Behr syndrome. ( 7538304 )
1995
11
MRI abnormalities in Behr syndrome. ( 8060430 )
1994
12
Behr syndrome: a clinicopathologic report. ( 571977 )
1979

Variations for Behr Syndrome

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

66
id 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

ClinVar genetic disease variations for Behr Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
2 OPA1 NM_130837.2(OPA1): c.2635C> T (p.Arg879Ter) single nucleotide variant Pathogenic rs879255593 GRCh37 Chromosome 3, 193380725: 193380725
3 OPA1 NM_130837.2(OPA1): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs879255594 GRCh37 Chromosome 3, 193361225: 193361225
4 OPA1 NM_015560.2(OPA1): c.1705+1G> T single nucleotide variant Pathogenic rs879255595 GRCh37 Chromosome 3, 193364970: 193364970

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 C12orf65 C19orf12 OPA1 OPA3

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

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

Sources for Behr 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
47 NCIt
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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