PedAM
Pediatric Disease Annotations & Medicines
| behr syndrome | ||||
| Disease ID | 1082 |
|---|---|
| Disease | behr syndrome |
| Definition | Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures. |
| Synonym | abortive cerebellar ataxia abortive cerebellar ataxia (disorder) behr syndrome (disorder) behr's syndrome behr's syndrome i behrs infantile hereditary optic atrophy with neurological abnormality infantile optic atrophy-ataxia optic atrophy, infantile optic atrophy, infantile hereditary, behr complicated form of optic atrophy, infantile hereditary, with neurologic abnormalities optic atrophy-ataxia syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0221061 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1082 |
|---|---|
| Disease | behr syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000639 | Nystagmus HP:0000505 | Visual impairment HP:0000551 | Abnormality of color vision HP:0001251 | Ataxia HP:0001249 | Mental retardation HP:0002191 | Progressive spasticity HP:0000648 | Optic-nerve degeneration HP:0001771 | Tight achilles tendon HP:0000648 | Optic atrophy HP:0001249 | Intellectual disability HP:0000486 | Strabismus HP:0001347 | Hyperreflexia HP:0003487 | Extensor plantar reflexes HP:0006366 | Adductor longus contractures HP:0001288 | Gait disturbance HP:0001257 | Spasticity HP:0003089 | Hamstring contractures HP:0001272 | Cerebellar atrophy |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1082 |
|---|---|
| Disease | behr syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002191 | Progressive spasticity | MP:0012051 | spasticity;HP:0001272 | Cerebellar atrophy |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100543 | Cognitive impairment | MP:0011250 | abdominal situs ambiguus;HP:0002311 | Incoordination |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |