eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital lymphedema | ||||
| Disease ID | 457 |
|---|---|
| Disease | congenital lymphedema |
| Definition | A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. |
| Synonym | congenital familial lymphedema congenital hereditary lymphedema congenital hereditary lymphedemas congenital lymphedema, primary congenital lymphedemas, primary congenital lymphoedema congenital lymphoedema (disorder) early onset lymphedema early onset lymphedemas early-onset lymphedema early-onset lymphedemas hereditary lymphedema hereditary lymphedema (disorder) hereditary lymphedema 1 hereditary lymphedema 1s hereditary lymphedema type i hereditary lymphedema type i (disorder) hereditary lymphedema, congenital hereditary lymphedemas hereditary lymphedemas, congenital hereditary lymphoedema hereditary lymphoedema type i infantile lymphedema (praecox) infantile lymphoedema (praecox) lmph1a lymphedema, congenital hereditary lymphedema, early onset lymphedema, early-onset lymphedema, hereditary lymphedema, hereditary, ia lymphedema, nonne-milroy lymphedema, primary congenital lymphedemas, congenital hereditary lymphedemas, early onset lymphedemas, early-onset lymphedemas, hereditary lymphedemas, primary congenital milroy dis milroy disease milroy lymphedema milroy lymphoedema milroy's disease milroy's disease (disorder) milroys dis milroys disease nonne milroy disease nonne milroy lymphedema nonne milroy meige disease nonne-milroy disease nonne-milroy lymphedema nonne-milroy lymphoedema nonne-milroy-meige disease nonne-milroy-meige syndrome primary (congenital) lymphedema primary (congenital) lymphoedema primary congenital lymphedema primary congenital lymphedemas primary congenital lymphoedema |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C1704423 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0025958 | microcephaly | 2 C0041341 | tuberous sclerosis | 2 C0011991 | diarrhea | 1 C1720771 | hydrocele | 1 C0024221 | lymphangioma | 1 C0020305 | hydrops fetalis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 284 | ANGPT1 | 1.429 | DISEASES 147372 | CCBE1 | 1.982 | DISEASES 2296 | FOXC1 | 2.961 | DISEASES 2303 | FOXC2 | 5.987 | DISEASES 2309 | FOXO3 | 1.226 | DISEASES 57165 | GJC2 | 6.263 | DISEASES 3187 | HNRNPH1 | 2.865 | DISEASES 5781 | PTPN11 | 1.108 | DISEASES 5784 | PTPN14 | 1.859 | DISEASES 54345 | SOX18 | 4.201 | DISEASES 7422 | VEGFA | 2.008 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 457 |
|---|---|
| Disease | congenital lymphedema |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0001597 | Abnormality of the nail HP:0001790 | Nonimmune hydrops fetalis HP:0007448 | Hyperkeratosis over edematous areas HP:0003550 | Predominantly lower limb lymphedema HP:0000034 | Testicular hydrocele HP:0001560 | Abnormality of the amniotic fluid HP:0001028 | Strawberry mark HP:0003759 | Underdeveloped lymphatic vessels |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0200058 | Angiosarcoma | 2 HP:0000252 | Small head circumference | 2 HP:0012531 | Pain | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0100764 | Lymphangioma | 1 HP:0002664 | Neoplasia | 1 HP:0009743 | Distichiasis of eyelid eyelashes | 1 HP:0000969 | Dropsy | 1 HP:0002027 | Abdominal pain | 1 |
| Disease ID | 457 |
|---|---|
| Disease | congenital lymphedema |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909650 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180616464 | C | G |
| rs121909651 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180616455 | A | G |
| rs121909652 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180613101 | G | A |
| rs121909654 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180619680 | C | T |
| rs121909655 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180614142 | A | G |
| rs121909656 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180614083 | C | T |
| rs121909657 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180619749 | C | T |
| rs267606818 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180619743 | C | T |
| rs587776833 | NA | 2324 | FLT4 | umls:C1704423 | CLINVAR | NA | 0.447328931 | NA | FLT4 | 5 | 180614074 | AGA | - |
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:0000034 | Hydrocele testis | MP:0001146 | abnormal testis morphology | any structural anomaly of the male reproductive glands |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003759 | Hypoplasia of lymphatic vessels | MP:0010194 | absent lymphatic vessels | absence of the network of vessels which carries lymph around the body |
| HP:0001790 | Nonimmune hydrops fetalis | MP:0002192 | hydrops fetalis | an abnormal accumulation of serous fluid in fetal tissues |
| 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 |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001028 | Hemangioma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0007448 | Hyperkeratosis over edematous areas | 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:0001560 | Abnormality of the amniotic fluid | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000034 | Hydrocele testis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003759 | Hypoplasia of lymphatic vessels | 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:0001790 | Nonimmune hydrops fetalis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 457 |
|---|---|
| Disease | congenital lymphedema |
| Case | (Waiting for update.) |