eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dysequilibrium syndrome | ||||
| Disease ID | 701 |
|---|---|
| Disease | dysequilibrium syndrome |
| Synonym | autosomal recessive cerebellar ataxia with mental retardation autosomal recessive cerebellar hypoplasia with cerebral gyral simplification camrq1 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 cerebellar ataxia, congenital, and mental retardation, autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar disorder, nonprogressive, with mental retardation cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion cerebellar hypoplasia, vldlr associated cerebellar hypoplasia, vldlr-associated chmrq1 des - dysequilibrium syndrome des-vldlr disequilibrium syndrome dysequilibrium syndrome (disorder) dysequilibrium syndrome-vldlr vldlr-associated cerebellar hypoplasia vldlr-ch vldlrch |
| Orphanet | |
| OMIM | |
| UMLS | C0394006 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 701 |
|---|---|
| Disease | dysequilibrium syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001250 | Seizures HP:0001251 | Ataxia HP:0000504 | Abnormality of vision HP:0001288 | Gait disturbance HP:0000518 | Cataract HP:0001347 | Hyperreflexia HP:0004322 | Short stature HP:0000486 | Strabismus HP:0100021 | Cerebral palsy HP:0100022 | Abnormality of movement HP:0001252 | Muscular hypotonia HP:0000478 | Abnormality of the eye HP:0003202 | Skeletal muscle atrophy HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 701 |
|---|---|
| Disease | dysequilibrium syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0575090 | balance disorder |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs397514750 | NA | 7436 | VLDLR | umls:C0394006 | CLINVAR | NA | 0.361628651 | NA | VLDLR | 9 | 2650382 | G | T |
| rs398122380 | NA | 7436 | VLDLR | umls:C0394006 | CLINVAR | NA | 0.361628651 | NA | VLDLR | 9 | 2645017 | GTTACAA | - |
| rs80338905 | NA | 7436 | VLDLR | umls:C0394006 | CLINVAR | NA | 0.361628651 | NA | VLDLR | 9 | 2645603 | C | A,T |
| rs80338906 | NA | 7436 | VLDLR | umls:C0394006 | CLINVAR | NA | 0.361628651 | NA | VLDLR | 9 | 2651877 | T | - |
| rs80338907 | NA | 7436 | VLDLR | umls:C0394006 | CLINVAR | NA | 0.361628651 | NA | VLDLR | 9 | 2643480 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000518 | Cataract | 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:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001250 | Seizures | 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: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: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:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | 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 | 701 |
|---|---|
| Disease | dysequilibrium syndrome |
| Case | (Waiting for update.) |