{"Name":"Hereditary factor I deficiency disease","DiseaseID__c":"GARD:0002320","id":2320,"encodedName":"hereditary-factor-i-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor I deficiency disease","Xref_IDs__c":"31925001; C0019250; C98937; MEDGEN:9230; MONDO:0018060; ORPHA:335","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018060","Disease_Description__c":"Rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).","GARD_Name__c":"Hereditary factor I deficiency disease","GARD_Synonym__c":"congenital fibrinogen deficiency; fga-related congenital afibrinogenemia; fgb-related congenital afibrinogenemia; fgg-related congenital afibrinogenemia; hereditary hypofibrinogenemia","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Congenital fibrinogen deficiency is a condition that affects the blood's ability to clot properly causing mild to severe bleeding symptoms. This condition is a result of a reduced quantity and/or quality of circulating fibrinogen (a type of blood protein). Afibrinogenemia refers to a complete absence of fibrinogen in the blood. Hypofibrinogenemia refers to a reduced amount of fibrinogen in the blood. Dysfibrinogenemia refers to when the fibrinogen in the blood does not work properly. Hypodysfibrinogenemia occurs when hypofibrinogenemia and dysfibrinogenemia occur together.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:335","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018060","ORPHANET_ID__c":"ORPHA:335","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de fibrinógeno","Spanish_Description_Source__c":"ORPHA:335","Spanish_Description__c":"Las deficiencias congénitas de fibrinógeno son trastornos de la coagulación, debidas a una reducción de la cantidad y/o calidad de fibrinógeno circulante, caracterizadas por síntomas hemorrágicos que varían de leves a graves. La afibrinogenemia (ausencia completa de fibrinógeno) y la hipofibrinogenemia (concentración reducida de fibrinógeno plasmático) (ver estos términos), corresponden a anomalías cuantitativas del fibrinógeno, mientras que la disfibrinogenemia (ver este término) corresponde a una anomalía funcional del fibrinógeno. La hipo- y la disfibrinogenemia están con frecuencia combinadas (hipodisfibrinogenemia).","Spanish_Disease_Name__c":"deficiencia congénita de fibrinógeno","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Congenital fibrinogen deficiency is a condition that affects the blood's ability to clot properly causing mild to severe bleeding symptoms. This condition is a result of a reduced quantity and/or quality of circulating fibrinogen (a type of blood protein). Afibrinogenemia refers to a complete absence of fibrinogen in the blood. Hypofibrinogenemia refers to a reduced amount of fibrinogen in the blood. Dysfibrinogenemia refers to when the fibrinogen in the blood does not work properly. Hypodysfibrinogenemia occurs when hypofibrinogenemia and dysfibrinogenemia occur together.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"congenital fibrinogen deficiency; fga-related congenital afibrinogenemia; fgb-related congenital afibrinogenemia; fgg-related congenital afibrinogenemia; hereditary hypofibrinogenemia","Name":"Hereditary factor I deficiency disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"World Federation of Hemophilia","Website__c":"https://wfh.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:335"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/335","Source__c":"MONDO:0018060","Xref__c":"ORPHA:335"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018060","Source__c":"GARD:0002320","Xref__c":"MONDO:0018060"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9230","Source__c":"C0019250","Xref__c":"MEDGEN:9230"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98937","Source__c":"C0019250","Xref__c":"C98937"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=31925001","Source__c":"C0019250","Xref__c":"31925001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019250","Source__c":"C0019250","Xref__c":"C0019250"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012886","HPO_Name__c":"Hemorrhagic ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A breach of the capsule of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012223","HPO_Synonym__c":"Ruptured spleen; Splenic rupture","HPO_Name__c":"Splenic rupture","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011884","HPO_Name__c":"Abnormal umbilical stump bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007185","HPO_Synonym__c":"Fainting; Loss of consciousness; Passing out","HPO_Name__c":"Loss of consciousness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of hemorrhage within the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011029","HPO_Synonym__c":"Internal bleeding","HPO_Name__c":"Internal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002179","HPO_Synonym__c":"Arc de cercle; Opisthotonos","HPO_Name__c":"Opisthotonus","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002580","HPO_Name__c":"Volvulus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lesion located beneath a fingernail or toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009723","HPO_Synonym__c":"Abnormality of the subungual region","HPO_Name__c":"Abnormal subungual morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acute hypersensitivity reaction due to exposure to a previously encountered antigen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100845","HPO_Synonym__c":"Anaphylactic reaction; Anaphylactoid-type reaction; Anaphylaxis","HPO_Name__c":"Anaphylactic shock","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:335","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital fibrinogen deficiency"," fga-related congenital afibrinogenemia"," fgb-related congenital afibrinogenemia"," fgg-related congenital afibrinogenemia"," hereditary hypofibrinogenemia"]}