eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sneddon syndrome | ||||
| Disease ID | 292 |
|---|---|
| Disease | sneddon syndrome |
| Definition | A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60) |
| Synonym | ehrmann sneddon syndrome idiopathic livedo reticularis with systemic involvement idiopathic livedo reticularis with systemic involvement (disorder) livedo racemosa and cerebrovascular accident livedo reticularis and cerebrovascular accident syndrome livedo reticularis and cerebrovascular accident syndrome (disorder) livedo reticularis and cerebrovascular accidents livedo reticularis, systemic involvement sneddon champion syndrome sneddon syndrome [disease/finding] sneddon's syndrome sneddon-champion syndrome sneddons syndrome syndrome, sneddon syndrome, sneddon-champion |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0282492 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0085278 | antiphospholipid syndrome | 2 C0497327 | dementia | 1 C0042384 | vasculitis | 1 C0026654 | moyamoya | 1 C0011269 | vascular dementia | 1 C0042109 | urticarial | 1 C0026269 | mitral valve stenosis | 1 C0242666 | protein s deficiency | 1 C0035302 | retinal artery occlusion | 1 C0151311 | cranial nerve palsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 100 | ADA | 2.292 | DISEASES 959 | CD40LG | 3.031 | DISEASES 2152 | F3 | 1.845 | DISEASES 2155 | F7 | 1.594 | DISEASES 5654 | HTRA1 | 2.743 | DISEASES 5336 | PLCG2 | 2.882 | DISEASES 7732 | RNF112 | 3.242 | DISEASES 462 | SERPINC1 | 2.879 | DISEASES 11277 | TREX1 | 2.901 | DISEASES 51393 | TRPV2 | 3.086 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CECR1 | 22q11.1 |
| Disease ID | 292 |
|---|---|
| Disease | sneddon syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0100576 | Amaurosis fugax HP:0003613 | Antiphospholipid antibody positivity HP:0001268 | Mental deterioration HP:0011276 | Vascular skin abnormality HP:0002354 | Memory impairment HP:0001269 | Hemiparesis HP:0002376 | Developmental regression HP:0002072 | Chorea HP:0100545 | Arterial stenosis HP:0003613 | Antiphospholipid antibodies HP:0000965 | Cutis marmorata HP:0001270 | Motor delay HP:0002381 | Aphasia HP:0000822 | Hypertension HP:0000112 | Nephropathy HP:0001250 | Seizures HP:0000708 | Behavioral abnormality HP:0000965 | Livedo reticularis HP:0002301 | Hemiplegia HP:0002315 | Headaches HP:0000726 | Dementia HP:0001297 | Cerebral vascular events HP:0002076 | Migraine HP:0001727 | Thromboembolic stroke HP:0002321 | Vertigo HP:0001123 | Visual field defect HP:0001324 | Muscle weakness HP:0001337 | Tremor HP:0001260 | Dysarthric speech HP:0002170 | Intracranial hemorrhage HP:0010628 | Facial palsy, unilateral or bilateral |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0001718 | Mitral stenosis | 1 HP:0003613 | Antiphospholipid antibodies | 1 HP:0002633 | Vasculitis | 1 HP:0006824 | Cranial nerve palsy | 1 HP:0000726 | Dementia | 1 |
| Disease ID | 292 |
|---|---|
| Disease | sneddon syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs770689762 | NA | 51816 | CECR1 | umls:C0282492 | CLINVAR | NA | 0.36 | NA | CECR1 | 22 | 17182696 | C | T |
| rs775440641 | NA | 51816 | CECR1 | umls:C0282492 | CLINVAR | NA | 0.36 | NA | CECR1 | 22 | 17188342 | T | C |
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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0004762 | increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
| HP:0100545 | Arterial stenosis | MP:0010641 | descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| HP:0001123 | Visual field defect | MP:0010402 | ventricular septal defect | abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions |
| HP:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
Mapped by homologous gene(Total Items:28) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002381 | Aphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100545 | Arterial stenosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001727 | Thromboembolic stroke | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0002301 | Hemiplegia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100576 | Amaurosis fugax | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001123 | Visual field defect | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001269 | Hemiparesis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000965 | Cutis marmorata | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 292 |
|---|---|
| Disease | sneddon syndrome |
| Case | (Waiting for update.) |