BEHRS
MCID: BHR001
MIFTS: 37

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 58 77 54 76 74
Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities 58 76
Behrs 58 76
Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss 54
Infantile Hereditary Optic Atrophy with Neurologic Abnormalities 76
Optic Atrophy, Infantile Hereditary, Behr Complicated Form of 54
Syndrome, Behr 41
Spasm 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
behr syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Behr Syndrome

OMIM : 58 '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 abnormal pyramidal signs. An important gene associated with Behr Syndrome is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). Related phenotypes are nystagmus and intellectual disability

NIH Rare Diseases : 54 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 : 76 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 : 77 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 601)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 30.8 C12orf65 C19orf12 OPA1 OPA3
2 hemifacial spasm 12.5
3 accommodative spasm 12.4
4 hemifacial spasm, familial 12.3
5 anal spasm 12.3
6 west syndrome 12.3
7 infantile spasms broad thumbs 12.3
8 dwarfism, familial, with muscle spasms 12.2
9 cryptogenic late-onset epileptic spasms 12.2
10 facial spasm 12.2
11 epileptic encephalopathy, early infantile, 1 12.1
12 corpus callosum dysgenesis cleft spasm 12.0
13 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.0
14 blepharospasm, benign essential 11.9
15 epileptic encephalopathy, early infantile, 2 11.9
16 satoyoshi syndrome 11.9
17 aicardi syndrome 11.9
18 levator syndrome 11.8
19 angina pectoris 11.7
20 epileptic encephalopathy, early infantile, 15 11.5
21 stiff-person syndrome 11.5
22 coronary artery vasospasm 11.4
23 blepharospasm 11.4
24 myocardial infarction 11.3
25 myopathy 11.3
26 epilepsy 11.3
27 congenital disorder of glycosylation, type iim 11.3
28 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.3
29 dyskinesia of esophagus 11.3
30 spasticity 11.3
31 myoclonus 11.2
32 trigeminal neuralgia 11.2
33 lissencephaly 11.2
34 dystonia 11.2
35 hypomagnesemia 1, intestinal 11.1
36 seizure disorder 11.1
37 jackhammer esophagus 11.1
38 lymphatic malformation 5 11.1
39 pachygyria 11.1
40 spasmodic dysphonia 11.1
41 panencephalitis, subacute sclerosing 11.1
42 porencephaly 11.1
43 myotonia congenita 11.1
44 neuromuscular disease 11.1
45 hydranencephaly 11.1
46 muscular dystrophy 11.1
47 hypertonia 11.1
48 tropical spastic paraparesis 11.0
49 peho syndrome 11.0
50 retrovirus-associated myelopathy 11.0

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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 gait disturbance 33 HP:0001288
4 tremor 33 HP:0001337
5 hyperreflexia 33 HP:0001347
6 optic atrophy 33 HP:0000648
7 progressive visual loss 33 HP:0000529
8 babinski sign 33 HP:0003487
9 dysmetria 33 HP:0001310
10 achilles tendon contracture 33 HP:0001771
11 motor delay 33 HP:0001270
12 cerebellar atrophy 33 HP:0001272
13 progressive spasticity 33 HP:0002191
14 hamstring contractures 33 HP:0003089
15 adductor longus contractures 33 HP:0006366

Symptoms via clinical synopsis from OMIM:

58
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, abnormal pyramidal signs, spasm

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 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:

76
# 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_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh38 Chromosome 3, 193667170: 193667173
3 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh37 Chromosome 3, 193361167: 193361167
4 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh38 Chromosome 3, 193643378: 193643378
5 OPA1 NM_130837.2(OPA1): c.2635C> T (p.Arg879Ter) single nucleotide variant Pathogenic rs879255593 GRCh37 Chromosome 3, 193380725: 193380725
6 OPA1 NM_130837.2(OPA1): c.2635C> T (p.Arg879Ter) single nucleotide variant Pathogenic rs879255593 GRCh38 Chromosome 3, 193662936: 193662936
7 OPA1 NM_130837.2(OPA1): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs879255594 GRCh37 Chromosome 3, 193361225: 193361225
8 OPA1 NM_130837.2(OPA1): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs879255594 GRCh38 Chromosome 3, 193643436: 193643436
9 OPA1 NM_015560.2(OPA1): c.1705+1G> T single nucleotide variant Pathogenic rs879255595 GRCh37 Chromosome 3, 193364970: 193364970
10 OPA1 NM_015560.2(OPA1): c.1705+1G> T single nucleotide variant Pathogenic rs879255595 GRCh38 Chromosome 3, 193647181: 193647181

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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