eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bilateral striopallidodentate calcinosis | ||||
| Disease ID | 1002 |
|---|---|
| Disease | bilateral striopallidodentate calcinosis |
| Synonym | adult-onset idiopathic nonarteriosclerotic cerebral calcification basal ganglia calcification, idiopathic, 1 basal ganglia calcification, idiopathic, 3, formerly bspdc cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset cerebral symmetric calcification cerebrovascular ferrocalcinosis fahr disease fahr disease, familial, formerly fahr syndrome fahr's disease fahr's syndrome fahr's syndrome (disorder) familial idiopathic basal ganglia calcification ferrocalcinosis, cerebrovascular fibgc ibgc1 ibgc3, formerly idiopathic basal ganglia calcification 1 idiopathic nonarteriosclerotic cerebrovascular calcification striopallidodentate calcinosis striopallidodentate calcinosis, autosomal dominant, adult onset striopallidodentate calcinosis, autosomal dominant, adult-onset striopallidodentate calcinosis, bilateral |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0393590 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0033975 | psychosis | 2 C0033806 | pseudohypoparathyroidism | 2 C0036341 | schizophrenia | 1 C1389280 | basal ganglia calcifications | 1 C0033860 | psoriasis | 1 C0011570 | depression | 1 C0409974 | lupus erythematosus | 1 C0024141 | systemic lupus erythematosus | 1 C1389280 | basal ganglia calcification | 1 C0852949 | arterial disease | 1 C1704436 | peripheral arterial disease | 1 C0020676 | hypothyroidism | 1 C0020598 | hypoglycemia | 1 C0497327 | dementia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1002 |
|---|---|
| Disease | bilateral striopallidodentate calcinosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs201836672 | 23939468 | 6575 | SLC20A2 | umls:C0393590 | UNIPROT | Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. | 0.482171535 | 2013 | SLC20A2 | 8 | 42472360 | T | G |
| rs36060072 | 20838928 | 4253 | CTAGE5 | umls:C0393590 | BeFree | Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). | 0.000271442 | 2011 | CTAGE5 | 14 | 39320945 | C | T,G |
| rs387906652 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42417960 | G | C,A |
| rs387906653 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42428829 | C | T |
| rs387906654 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42428768 | G | A |
| rs398122395 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42463013 | A | - |
| rs398122396 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42417931 | GGGA | - |
| rs398122397 | NA | 6575 | SLC20A2 | umls:C0393590 | CLINVAR | NA | 0.482171535 | NA | SLC20A2 | 8 | 42459925 | AC | - |
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:0001933 | Subcutaneous hemorrhage | MP:0011437 | glomerulus hemorrhage | bleeding in the renal glomerulus |
| HP:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001392 | Abnormality of the liver | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001933 | Subcutaneous hemorrhage | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000252 | Microcephaly | 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1002 |
|---|---|
| Disease | bilateral striopallidodentate calcinosis |
| Case | (Waiting for update.) |