eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| behr syndrome | ||||
| Disease ID | 1790 |
|---|---|
| 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 | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1790 |
|---|---|
| Disease | behr syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000639 | Nystagmus HP:0001257 | Spasticity HP:0001771 | Tight achilles tendon HP:0001251 | Ataxia HP:0001288 | Gait disturbance HP:0000505 | Visual impairment HP:0001347 | Hyperreflexia HP:0000486 | Strabismus HP:0000551 | Abnormality of color vision HP:0001272 | Cerebellar atrophy HP:0003487 | Extensor plantar reflexes HP:0003089 | Hamstring contractures HP:0000648 | Optic atrophy HP:0002191 | Progressive spasticity HP:0006366 | Adductor longus contractures HP:0001249 | Mental retardation HP:0000648 | Optic-nerve degeneration HP:0001249 | Intellectual disability |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1790 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001272 | Cerebellar atrophy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002191 | Progressive spasticity | MP:0012051 | spasticity | a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch |
| HP:0000551 | Abnormality of color vision | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000551 | Abnormality of color vision | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0002191 | Progressive spasticity | MP:0012051 | spasticity | a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001771 | Achilles tendon contracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001272 | Cerebellar atrophy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 1790 |
|---|---|
| Disease | behr syndrome |
| Case | (Waiting for update.) |