eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lymphedema-distichiasis syndrome | ||||
| Disease ID | 1202 |
|---|---|
| Disease | lymphedema-distichiasis syndrome |
| Definition | An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis. |
| Synonym | distichiasis-lymphedema syndrome distichiasis-lymphedema syndrome (disorder) distichiasis-lymphoedema syndrome hereditary lymphedema-distichiasis syndrome lymphedema distichiasis syndrome lymphedema with distichiasis |
| OMIM | |
| UMLS | C0265345 |
| SNOMED-CT | |
| 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:1) FOXC2 | 16q24.1 |
| Disease ID | 1202 |
|---|---|
| Disease | lymphedema-distichiasis syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000518 | Cataract HP:0100244 | Fibrosarcoma HP:0000010 | Recurrent urinary tract infections HP:0000093 | Proteinuria HP:0001970 | Tubulointerstitial nephritis HP:0004930 | Abnormality of the pulmonary vasculature HP:0000075 | Renal duplication HP:0000508 | Ptosis HP:0100820 | Glomerulopathy HP:0002564 | Malformation of the heart and great vessels HP:0009745 | Spinalarachnoid cyst HP:0000465 | Webbed neck HP:0200020 | Corneal erosion HP:0000204 | Cleft upper lip HP:0001643 | Patent ductus arteriosus HP:0003550 | Predominantly lower limb lymphedema HP:0000175 | Cleft palate HP:0000656 | Ectropion HP:0011675 | Arrhythmia HP:0009743 | Distichiasis HP:0001324 | Muscle weakness HP:0000613 | Photophobia HP:0000819 | Diabetes mellitus HP:0000509 | Conjunctivitis HP:0002619 | Varicose veins HP:0001581 | Recurrent skin infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1202 |
|---|---|
| Disease | lymphedema-distichiasis syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001970 | Tubulointerstitial nephritis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0003550 | Predominantly lower limb lymphedema | MP:0003390 | lymphedema | abnormal swelling in the soft tissues of the limbs, or less often the trunk, caused by the buildup of lymph fluid |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009743 | Distichiasis | MP:0011509 | dilated glomerular capillary | stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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:0000093 | Proteinuria | 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:0002619 | Varicose veins | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000075 | Renal duplication | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001643 | Patent ductus arteriosus | 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:0100244 | Fibrosarcoma | MP:0011110 | preweaning lethality, 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 fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000175 | Cleft palate | 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:0001970 | Tubulointerstitial nephritis | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0003550 | Predominantly lower limb lymphedema | MP:0012732 | abnormal perineural vascular plexus morphology | any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000465 | Webbed neck | 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:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| Disease ID | 1202 |
|---|---|
| Disease | lymphedema-distichiasis syndrome |
| Case | (Waiting for update.) |