MCID: BHR001
MIFTS: 36

Behr Syndrome

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

Aliases & Classifications for Behr Syndrome

MalaCards integrated aliases for Behr Syndrome:

Name: Behr Syndrome 53 72 49 71 69
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 53 71
Behrs 53 71
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 49
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 71
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 49
Spasm 41

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Behr Syndrome

OMIM : 53 '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 hemifacial spasm, and has symptoms including ataxia, tremor and nystagmus. An important gene associated with Behr Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase).

NIH Rare Diseases : 49 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 194)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.6 C12orf65 C19orf12 OPA1 OPA3
2 hemifacial spasm 12.3
3 hemifacial spasm, familial 12.3
4 accommodative spasm 12.3
5 anal spasm 12.2
6 dwarfism, familial, with muscle spasms 12.0
7 west syndrome 12.0
8 facial spasm 12.0
9 infantile epileptic encephalopathy 12.0
10 epileptic encephalopathy, early infantile, 1 11.9
11 infantile spasms broad thumbs 11.9
12 cryptogenic late-onset epileptic spasms 11.9
13 corpus callosum dysgenesis cleft spasm 11.8
14 blepharospasm, benign essential 11.7
15 satoyoshi syndrome 11.7
16 aicardi syndrome 11.7
17 epileptic encephalopathy, early infantile, 2 11.7
18 prinzmetal's variant angina 11.4
19 epileptic encephalopathy, early infantile, 15 11.4
20 levator syndrome 11.4
21 cdkl5-related disorder 11.3
22 coronary artery vasospasm 11.3
23 blepharospasm 11.3
24 stiff-person syndrome 11.3
25 tetanus 11.2
26 myopathy 11.1
27 myocardial infarction 11.1
28 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.1
29 epilepsy 11.1
30 lissencephaly 11.1
31 spasticity 11.1
32 trigeminal neuralgia 11.0
33 dystonia 11.0
34 hypomagnesemia 1, intestinal 11.0
35 arachnoiditis 11.0
36 pachygyria 10.9
37 jackhammer esophagus 10.9
38 porencephaly 10.9
39 hydranencephaly 10.9
40 muscular dystrophy 10.9
41 spasmodic dysphonia 10.9
42 hypertonia 10.9
43 psychogenic movement 10.9
44 tropical spastic paraparesis 10.9
45 peho syndrome 10.8
46 bronchial disease 10.8
47 dyskinesia of esophagus 10.8
48 spasmus nutans 10.8
49 myelopathy, htlv-1-associated 10.7
50 neurodegeneration with brain iron accumulation 1 10.7

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:

53
Neurologic Central Nervous System:
tremor
hyperreflexia
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

Human phenotypes related to Behr Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 tremor 31 HP:0001337
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 gait disturbance 31 HP:0001288
6 hyperreflexia 31 HP:0001347
7 optic atrophy 31 HP:0000648
8 progressive visual loss 31 HP:0000529
9 babinski sign 31 HP:0003487
10 dysmetria 31 HP:0001310
11 cerebellar atrophy 31 HP:0001272
12 progressive spasticity 31 HP:0002191
13 motor delay 31 HP:0001270
14 achilles tendon contracture 31 HP:0001771
15 hamstring contractures 31 HP:0003089
16 adductor longus contractures 31 HP:0006366

UMLS symptoms related to Behr Syndrome:


abnormal pyramidal signs, tremor, spasm, ataxia

Drugs & Therapeutics for Behr Syndrome

Search Clinical Trials , NIH Clinical Center for Behr Syndrome

Cochrane evidence based reviews: spasm

Genetic Tests for Behr Syndrome

Anatomical Context for Behr Syndrome

Publications for Behr Syndrome

Articles related to Behr Syndrome:

(show all 12)
# 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 homozygous C19ORF12 mutation. ( 26187298 )
2015
3
'Behr syndrome' with OPA1 compound heterozygote mutations. ( 25146916 )
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
# 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
# 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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 8.96 C19orf12 OPA1
2 mitochondrion GO:0005739 8.92 C12orf65 C19orf12 OPA1 OPA3

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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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