{"Name":"Hemihyperplasia-multiple lipomatosis syndrome","DiseaseID__c":"GARD:0021051","id":21051,"encodedName":"hemihyperplasia-multiple-lipomatosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hemihyperplasia-multiple lipomatosis syndrome","Xref_IDs__c":"C4749904; MEDGEN:1651269; MONDO:0017177; ORPHA:276280","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017177","Disease_Description__c":"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.","GARD_Name__c":"Hemihyperplasia-multiple lipomatosis syndrome","GARD_Synonym__c":"hemihyperplasia with multiple lipomatosis syndrome; hhml; hhml (hemihyperplasia multiple lipomatosis) syndrome","Curated_Disease_Description_Source__c":"MONDO:0017177","Curated_Disease_Description__c":"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:276280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017177","ORPHANET_ID__c":"ORPHA:276280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hemihiperplasia-lipomatosis múltiple","Spanish_Description_Source__c":"ORPHA:276280","Spanish_Description__c":"Es un síndrome de sobrecrecimiento, genético y poco frecuente, caracterizado por hemihiperplasia moderada asimétrica y no progresiva (que, por lo general, afecta a las extremidades) junto con masas lipomatosas subcutáneas, múltiples, recurrentes, indoloras, de crecimiento lento, distribuidas por todo el cuerpo (en particular, en espalda, torso, extremidades, dedos, axilas). Los afectados también pueden presentar malformaciones vasculares superficiales. Asimismo, se puede asociar un mayor riesgo de neoplasias intraabdominales embrionarias.","Spanish_Disease_Name__c":"síndrome de hemihiperplasia-lipomatosis múltiple","Spanish_GARD_Synonym__c":"hhml","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":"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.","Curated_Disease_Description_Source__c":"MONDO:0017177","GARD_Synonym__c":"hemihyperplasia with multiple lipomatosis syndrome; hhml; hhml (hemihyperplasia multiple lipomatosis) syndrome","Name":"Hemihyperplasia-multiple lipomatosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"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":"Childhood","Provided_By__c":"ORPHA:276280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1651269","Source__c":"C4749904","Xref__c":"MEDGEN:1651269"},{"URL__c":"https://www.orpha.net/en/disease/detail/276280","Source__c":"C4749904; MONDO:0017177; ORPHA:276280","Xref__c":"ORPHA:276280"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749904","Source__c":"C4749904","Xref__c":"C4749904"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017177","Source__c":"GARD:0021051","Xref__c":"MONDO:0017177"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771440006","Source__c":"C4749904","Xref__c":"771440006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIK3CA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pik3ca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Histological term to illustrate the combined presence of parakeratosis and hyperkeratosis. Abnormal keratinization of the epidermal stratum corneum (horny layer) with increased keratin formation and preservation of the nuclei in the superficial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040009","HPO_Synonym__c":"Parahyperkeratosis; Parakeratotic hyperkeratosis","HPO_Name__c":"Hyperparakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004099","HPO_Synonym__c":"Finger overgrowth; Megalodactyly","HPO_Name__c":"Macrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two to four.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010714","HPO_Synonym__c":"Syndactyly of toes 2, 3 and 4; Syndactyly toes 2-4; Webbed 2nd-4th toes","HPO_Name__c":"2-4 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","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:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012887","HPO_Name__c":"Ovarian serous cystadenoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001051","HPO_Synonym__c":"Seborrhea; Seborrheic eczema","HPO_Name__c":"Seborrheic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","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:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001548","HPO_Synonym__c":"General overgrowth","HPO_Name__c":"Overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Dermatology","Otolaryngology","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology","Craniofacial Anomalies"]},"synonyms":["hemihyperplasia with multiple lipomatosis syndrome"," hhml"," hhml (hemihyperplasia multiple lipomatosis) syndrome"]}