{"Name":"Hereditary lymphedema type I","DiseaseID__c":"GARD:0003328","id":3328,"encodedName":"hereditary-lymphedema-type-i","IsDeleted":false,"Disease_Name_Full__c":"Hereditary lymphedema type I","Xref_IDs__c":"399889006; 423022939; C1704423; DOID:0070210; DOID:0070212; MEDGEN:309963; MONDO:0007919; OMIM:153100; ORPHA:79452","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007919","Disease_Description__c":"Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.","GARD_Name__c":"Hereditary lymphedema type I","GARD_Synonym__c":"congenital hereditary lymphedema; congenital primary lymphedema; early onset lymphedema; flt4 hereditary lymphedema; hereditary lymphedema 1; hereditary lymphedema caused by mutation in flt4; lmph1a; lmphm1; lymphatic malformation 1; lymphedema, early-onset; lymphedema, hereditary, 1a; lymphedema, hereditary, type 1a; meige's disease; milroy disease; milroy lymphedema; milroy's disease; nonne-milroy disease; nonne-milroy lymphedema; nonne-milroy syndrome; nonne-milroy-meige syndrome; nonne's syndrome; nonne’s syndrome; primary congenital lymphedema","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Lymphatic malformation 1 is a disease that causes chronic swelling of body parts due to problems with the lymphatic system. This can happen from birth or in early childhood, but it can also occur later. The severity of the swelling can vary, and there may be changes in the nails and skin, such as nail dysplasia or papillomatosis. There are different types of primary lymphedema that are caused by changes in different genes. Additionally, lympatic malformations can also be a feature of other diseases like lymphedema-distichiasis syndrome and nonimmune hydrops fetalis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"OMIM:153100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007919","ORPHANET_ID__c":"ORPHA:79452","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de milroy","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de milroy","Spanish_GARD_Synonym__c":"linfedema de nonne-milroy; linfedema hereditario tipo i","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Lymphatic malformation 1 is a disease that causes chronic swelling of body parts due to problems with the lymphatic system. This can happen from birth or in early childhood, but it can also occur later. The severity of the swelling can vary, and there may be changes in the nails and skin, such as nail dysplasia or papillomatosis. There are different types of primary lymphedema that are caused by changes in different genes. Additionally, lympatic malformations can also be a feature of other diseases like lymphedema-distichiasis syndrome and nonimmune hydrops fetalis.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"congenital hereditary lymphedema; congenital primary lymphedema; early onset lymphedema; flt4 hereditary lymphedema; hereditary lymphedema 1; hereditary lymphedema caused by mutation in flt4; lmph1a; lmphm1; lymphatic malformation 1; lymphedema, early-onset; lymphedema, hereditary, 1a; lymphedema, hereditary, type 1a; meige's disease; milroy disease; milroy lymphedema; milroy's disease; nonne-milroy disease; nonne-milroy lymphedema; nonne-milroy syndrome; nonne-milroy-meige syndrome; nonne's syndrome; nonne’s syndrome; primary congenital lymphedema","Name":"Hereditary lymphedema type I","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lymphatic Education and Research Network","Website__c":"https://lymphaticnetwork.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79452"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79452"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:79452"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003328","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1239","Source__c":"Gene Review","Xref__c":"NBK1239"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=309963","Source__c":"C1704423","Xref__c":"MEDGEN:309963"},{"URL__c":"https://www.omim.org/entry/153100","Source__c":"C1704423; MONDO:0007919","Xref__c":"OMIM:153100"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070210","Source__c":"MONDO:0007919","Xref__c":"DOID:0070210"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070212","Source__c":"MONDO:0007919","Xref__c":"DOID:0070212"},{"URL__c":"https://www.orpha.net/en/disease/detail/79452","Source__c":"C1704423; MONDO:0007919; ORPHA:79452","Xref__c":"ORPHA:79452"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399889006","Source__c":"C1704423; MONDO:0007919","Xref__c":"399889006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1704423","Source__c":"C1704423","Xref__c":"C1704423"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007919","Source__c":"GARD:0003328","Xref__c":"MONDO:0007919"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022939","Xref__c":"423022939"},{"URL__c":"https://medlineplus.gov/genetics/condition/milroy-disease"},{"URL__c":"https://medlineplus.gov/genetics/condition/milroy-disease","Source__c":"GARD:0003328","Xref__c":"https://medlineplus.gov/genetics/condition/milroy-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLT4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flt4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002624","HPO_Synonym__c":"Abnormal vein; Venous abnormality","HPO_Name__c":"Abnormal venous morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001785","HPO_Synonym__c":"Ankle swelling","HPO_Name__c":"Ankle swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200058","HPO_Name__c":"Angiosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100797","HPO_Synonym__c":"Abnormal toenail development; Dysplastic toenails","HPO_Name__c":"Toenail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003550","HPO_Name__c":"Predominantly lower limb lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001055","HPO_Name__c":"Erysipelas","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100725","HPO_Name__c":"Lichenification","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital hereditary lymphedema"," congenital primary lymphedema"," early onset lymphedema"," flt4 hereditary lymphedema"," hereditary lymphedema 1"," hereditary lymphedema caused by mutation in flt4"," lmph1a"," lmphm1"," lymphatic malformation 1"," lymphedema, early-onset"," lymphedema, hereditary, 1a"," lymphedema, hereditary, type 1a"," meige's disease"," milroy disease"," milroy lymphedema"," milroy's disease"," nonne-milroy disease"," nonne-milroy lymphedema"," nonne-milroy syndrome"," nonne-milroy-meige syndrome"," nonne's syndrome"," nonne’s syndrome"," primary congenital lymphedema"]}