MCID: BHR001
MIFTS: 38

Behr Syndrome

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

Aliases & Classifications for Behr Syndrome

MalaCards integrated aliases for Behr Syndrome:

Name: Behr Syndrome 54 50 56 71 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 71
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 71
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 50
Behrs 71
Spasm 42

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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


Classifications:

Orphanet: 56  
Rare eye diseases


Summaries for Behr Syndrome

OMIM : 54
'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 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 visual impairment, optic atrophy and nystagmus. An important gene associated with Behr Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). The drugs Ajmaline and Anti-Arrhythmia Agents 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 : 71 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 : 72 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 188)
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 corpus callosum dysgenesis cleft spasm 11.7
11 magi2-related infantile spasms 11.7
12 aicardi syndrome 11.6
13 satoyoshi 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 levator syndrome 11.3
18 coronary artery vasospasm 11.2
19 blepharospasm 11.1
20 stiff-person syndrome 11.1
21 tetanus 11.1
22 myopathy 11.0
23 epilepsy 11.0
24 lissencephaly 10.9
25 spasticity 10.9
26 myoclonus 10.9
27 trigeminal neuralgia 10.9
28 dystonia 10.9
29 3-methylglutaconic aciduria, type iii 10.9
30 hypomagnesemia 1, intestinal 10.8
31 prinzmetal's variant angina 10.8
32 arachnoiditis 10.8
33 meige syndrome 10.8
34 pachygyria 10.8
35 muscular dystrophy 10.8
36 spasmodic dysphonia 10.8
37 psychogenic movement 10.8
38 hydranencephaly 10.8
39 porencephaly 10.8
40 hypertonia 10.8
41 tropical spastic paraparesis 10.8
42 microcephaly, corpus callosum dysgenesis and cleft lip-palate 10.7
43 peho syndrome 10.7
44 retrovirus-associated myelopathy 10.7
45 sjogren-larsson syndrome 10.6
46 hypocalcemia, autosomal dominant 10.6
47 epileptic encephalopathy, early infantile, 15 10.6
48 epileptic encephalopathy, early infantile, 13 10.6
49 epidermoid brain tumor 10.6
50 primary hypomagnesemia 10.6

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



Diseases related to Behr Syndrome

Symptoms & Phenotypes for Behr Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

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)

Neurologic- Central Nervous System:
delayed motor development
impaired gait
tremor
hyperreflexia
extensor plantar responses
more
Neurologic- Peripheral Nervous System:
axonal sensorimotor neuropathy laboratory studies : increased lactate in the cerebrospinal fluid
reduced mitochondrial complex i activity in fibroblasts


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 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
3 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
6 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
7 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
8 abnormality of color vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000551
9 hyperreflexia 32 HP:0001347
10 cerebellar atrophy 32 HP:0001272
11 hamstring contractures 32 HP:0003089
12 gait disturbance 32 HP:0001288
13 babinski sign 32 HP:0003487
14 progressive spasticity 32 HP:0002191
15 achilles tendon contracture 32 HP:0001771
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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ajmaline Approved, Nutraceutical Phase 2 4360-12-7 441080
2 Anti-Arrhythmia Agents Phase 2
3 Diuretics, Potassium Sparing Phase 2
4 Lorajmine Phase 2
5 Sodium Channel Blockers Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Response To Ajmaline Provocation in Healthy Subjects Not yet recruiting NCT02933437 Phase 2 Ajmaline

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:

71
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 rs879255594

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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