{"Name":"Hepatic veno-occlusive disease-immunodeficiency syndrome","DiseaseID__c":"GARD:0010083","id":10083,"encodedName":"hepatic-veno-occlusive-disease-immunodeficiency-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hepatic veno-occlusive disease-immunodeficiency syndrome","Xref_IDs__c":"724361001; C1856128; C537257; DOID:0112254; MEDGEN:344659; MONDO:0009338; NBK1271; OMIM:235550; ORPHA:79124","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009338","Disease_Description__c":"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.","GARD_Name__c":"Hepatic veno-occlusive disease-immunodeficiency syndrome","GARD_Synonym__c":"hepatic veno-occlusive disease with immunodeficiency; vodi syndrome","Curated_Disease_Description_Source__c":"MONDO:0009338","Curated_Disease_Description__c":"Hepatic veno-occlusive disease with immunodeficiency (VODI) is a disorder of the liver and immune system. Its signs and symptoms typically appear before six months of age. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure. Children with VODI have immune systems that do not function normally. They are vulnerable to recurrent infections that are caused by certain bacteria, viruses, and fungi. Affected individuals experience frequent colds or bouts of pneumonia. The infections are likely related to lower-than-normal levels of immune system cells, including special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM), immunoglobulin G (IgG), and immunoglobulin A (IgA). Antibodies attach to specific foreign particles, marking them for destruction. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident. Some children with VODI have neurological problems due to blocked blood flow in the brain. If untreated, children with VODI do not survive past infancy. With treatment, many people with VODI can live into childhood and sometimes into their teens.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:79124","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009338","ORPHANET_ID__c":"ORPHA:79124","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad hepática veno-oclusiva-inmunodeficiencia","Spanish_Description_Source__c":"ORPHA:79124","Spanish_Description__c":"Es un síndrome poco precuente con inmunodeficiencia combinada que se caracteriza por la asociación de hipogammaglobulinemia grave, inmunodeficiencia combinada de células T y B, ausencia de los centros germinales de los ganglios linfáticos, ausencia de células plasmáticas tisulares y enfermedad venooclusiva hepática.","Spanish_Disease_Name__c":"síndrome de enfermedad hepática veno-oclusiva-inmunodeficiencia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","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":"Hepatic veno-occlusive disease with immunodeficiency (VODI) is a disorder of the liver and immune system. Its signs and symptoms typically appear before six months of age. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure. Children with VODI have immune systems that do not function normally. They are vulnerable to recurrent infections that are caused by certain bacteria, viruses, and fungi. Affected individuals experience frequent colds or bouts of pneumonia. The infections are likely related to lower-than-normal levels of immune system cells, including special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM), immunoglobulin G (IgG), and immunoglobulin A (IgA). Antibodies attach to specific foreign particles, marking them for destruction. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident. Some children with VODI have neurological problems due to blocked blood flow in the brain. If untreated, children with VODI do not survive past infancy. With treatment, many people with VODI can live into childhood and sometimes into their teens.","Curated_Disease_Description_Source__c":"MONDO:0009338","GARD_Synonym__c":"hepatic veno-occlusive disease with immunodeficiency; vodi syndrome","Name":"Hepatic veno-occlusive disease-immunodeficiency syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"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":"Infancy","Provided_By__c":"ORPHA:79124"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1856128"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010083","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1271","Source__c":"Gene Review","Xref__c":"NBK1271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537257","Source__c":"MONDO:0009338","Xref__c":"C537257"},{"URL__c":"https://www.omim.org/entry/235550","Source__c":"C1856128; MONDO:0009338; ORPHA:79124","Xref__c":"OMIM:235550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724361001","Source__c":"MONDO:0009338","Xref__c":"724361001"},{"URL__c":"https://www.orpha.net/en/disease/detail/79124","Source__c":"C1856128; MONDO:0009338","Xref__c":"ORPHA:79124"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112254","Source__c":"MONDO:0009338","Xref__c":"DOID:0112254"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856128","Source__c":"C1856128","Xref__c":"C1856128"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344659","Source__c":"C1856128","Xref__c":"MEDGEN:344659"},{"URL__c":"https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency","Source__c":"GARD:0010083","Xref__c":"https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009338","Source__c":"GARD:0010083","Xref__c":"MONDO:0009338"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SP110","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sp110","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040089","HPO_Synonym__c":"Abnormal NK cell count; Abnormal number of natural killer cells; Abnormality of natural killer cell count","HPO_Name__c":"Abnormal total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002722","HPO_Name__c":"Recurrent abscess formation","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal levels of interferon gamma measured in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030355","HPO_Synonym__c":"Abnormal serum interferon-gamma level","HPO_Name__c":"Abnormal circulating interferon-gamma concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030374","HPO_Name__c":"Decreased proportion of memory B cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002728","HPO_Synonym__c":"Chronic candidiasis of mucosa, skin and nails; Mucocutaneous candidiasis","HPO_Name__c":"Chronic mucocutaneous candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031123","HPO_Name__c":"Recurrent gastroenteritis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness or partial paralysis in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002385","HPO_Synonym__c":"Partial paralysis of legs","HPO_Name__c":"Paraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031218","HPO_Synonym__c":"Inappropriate ADH secretion","HPO_Name__c":"Inappropriate antidiuretic hormone secretion","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004429","HPO_Name__c":"Recurrent viral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040223","HPO_Synonym__c":"Intrapulmonary hemorrhage","HPO_Name__c":"Pulmonary hemorrhage","Feature_System__c":"Cardiovascular System; Respiratory system; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002743","HPO_Name__c":"Recurrent enteroviral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to completely empty the urinary bladder during the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000016","HPO_Synonym__c":"Increased post-void residual urine volume","HPO_Name__c":"Urinary retention","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002415","HPO_Synonym__c":"Degeneration of white matter of brain","HPO_Name__c":"Leukodystrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality in the total number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040088","HPO_Synonym__c":"Abnormal lymphocyte count; Abnormal lymphocyte counts; Abnormal number of lymphocytes; Abnormal numbers of lymphocytes; Abnormality of lymphocyte number","HPO_Name__c":"Abnormal lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011117","HPO_Synonym__c":"Abnormal serum IL level; Abnormal serum interleukin level; Abnormality of IL secretion; Abnormality of interleukin secretion","HPO_Name__c":"Abnormal circulating interleukin concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003139","HPO_Synonym__c":"Panypogammaglobulinemia","HPO_Name__c":"Panhypogammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002100","HPO_Synonym__c":"Recurrent pneumonia due to aspiration,","HPO_Name__c":"Recurrent aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410018","HPO_Synonym__c":"Frequent ear infections; Recurrent ear infections","HPO_Name__c":"Recurrent ear infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100626","HPO_Synonym__c":"Chronic liver failure","HPO_Name__c":"Chronic hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Vascular Medicine","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["hepatic veno-occlusive disease with immunodeficiency"," vodi syndrome"]}