Details of Disease

General Information of Disease (ID: DIS0X9PZ)

Disease Name Behr syndrome
Synonyms
BEHRS; optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, with neurologic abnormalities; Behr syndrome
Definition
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.|Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISD715V: Hereditary neurological disease
DISXL1WB: OPA1-related optic atrophy with or without extraocular features
DIS0X9PZ: Behr syndrome
Disease Identifiers
MONDO ID
MONDO_0008858
MESH ID
C537669
UMLS CUI
C0221061
OMIM ID
210000
MedGen ID
66358

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q Limited Genetic Variation [1]
OPA1 TTTU49Q Strong Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C19orf12 OTVSJ1AR Limited Genetic Variation [3]
OPA1 OTJGNWPW Strong Autosomal recessive [2]
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References

1 Metabolic stroke in a patient with bi-allelic OPA1 mutations.Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10.
2 Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7.
3 Behr syndrome with homozygous C19ORF12 mutation.J Neurol Sci. 2015 Oct 15;357(1-2):115-8. doi: 10.1016/j.jns.2015.07.009. Epub 2015 Jul 9.