{"Name":"Arterial calcification of infancy","DiseaseID__c":"GARD:0008380","id":8380,"encodedName":"arterial-calcification-of-infancy","IsDeleted":false,"Disease_Name_Full__c":"Arterial calcification of infancy","Xref_IDs__c":"C1859727; C537440; DOID:0050644; MEDGEN:395331; MONDO:0018870; OMIMPS:208000; ORPHA:51608","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018870","Disease_Description__c":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","GARD_Name__c":"Arterial calcification of infancy","GARD_Synonym__c":"generalised arterial calcification of infancy; generalized arterial calcification of infancy; idiopathic infantile arterial calcification; idiopathic obliterative arteriopathy; infantile arteriosclerosis; occlusive infantile arteriopathy","Curated_Disease_Description_Source__c":"MONDO:0018870","Curated_Disease_Description__c":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","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":"ORPHA:51608","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018870","ORPHANET_ID__c":"ORPHA:51608","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Calcificación arterial generalizada del lactante","Spanish_Description_Source__c":"ORPHA:51608","Spanish_Description__c":"Es una enfermedad vascular genética y poco frecuente caracterizada por un inicio temprano (entre el periodo prenatal y la lactancia) de calcificación generalizada y estenosis de las arterias grandes y medianas. Se presenta, típicamente, con distrés respiratorio, insuficiencia cardíaca congestiva e hipertensión sistémica.","Spanish_Disease_Name__c":"calcificación arterial generalizada del lactante","Spanish_GARD_Synonym__c":"arteriopatía obliterante idiopática; arteriopatía oclusiva del lactante; arteriosclerosis del lactante; calcificación arterial del lactante idiopática","Category_Linearization__c":"ORPHA:98028","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":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","Curated_Disease_Description_Source__c":"MONDO:0018870","GARD_Synonym__c":"generalised arterial calcification of infancy; generalized arterial calcification of infancy; idiopathic infantile arterial calcification; idiopathic obliterative arteriopathy; infantile arteriosclerosis; occlusive infantile arteriopathy","Name":"Arterial calcification of infancy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"GACI Global","Website__c":"https://gaciglobal.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":"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":"Antenatal","Provided_By__c":"ORPHA:51608"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:51608"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:51608"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859727"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3276161"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008380","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK253403","Source__c":"Gene Review","Xref__c":"NBK253403"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859727","Source__c":"C1859727","Xref__c":"C1859727"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS208000","Source__c":"MONDO:0018870","Xref__c":"OMIMPS:208000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395331","Source__c":"C1859727","Xref__c":"MEDGEN:395331"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050644","Source__c":"MONDO:0018870","Xref__c":"DOID:0050644"},{"URL__c":"https://www.orpha.net/en/disease/detail/51608","Source__c":"C1859727; MONDO:0018870; ORPHA:51608","Xref__c":"ORPHA:51608"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537440","Source__c":"MONDO:0018870","Xref__c":"C537440"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018870","Source__c":"GARD:0008380","Xref__c":"MONDO:0018870"},{"URL__c":"https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy"},{"URL__c":"https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy","Source__c":"GARD:0008380","Xref__c":"https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCC6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcc6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ENPP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/enpp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; 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Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal structure of the retinal artery or arterioles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000630","HPO_Synonym__c":"Abnormal retinal arteriole morphology; Abnormal retinal artery morphology; Abnormality of retinal arteries; Retinal arterial abnormality; Retinal arteriolar abnormality","HPO_Name__c":"Abnormal retinal arterial/arteriolar morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001717","HPO_Name__c":"Coronary artery calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003941","HPO_Name__c":"Stippled calcification of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003836","HPO_Name__c":"Stippled calcification of the shoulder","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012409","HPO_Name__c":"Cortical nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010639","HPO_Synonym__c":"Elevated alkaline phosphatase of bone origin; Elevated ALP of bone origin; Increased serum bone-specific alkaline phosphatase","HPO_Name__c":"Elevated alkaline phosphatase of bone origin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000381","HPO_Synonym__c":"Stapes fixation","HPO_Name__c":"Stapes ankylosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004963","HPO_Name__c":"Calcification of the aorta","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006559","HPO_Synonym__c":"Liver calcifications","HPO_Name__c":"Hepatic calcification","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Ossification affecting the external ear cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005103","HPO_Synonym__c":"Cartilaginous ossification of pinnae; Ossification of pinnae; Petrified ear","HPO_Name__c":"Calcification of the auricular cartilage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","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:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002647","HPO_Synonym__c":"Tear in inner wall of large artery that carries blood away from heart","HPO_Name__c":"Aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","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:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Calcium deposition in the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006690","HPO_Synonym__c":"Calcified myocardium","HPO_Name__c":"Myocardial calcification","Feature_System__c":"Musculoskeletal System; 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Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025116","HPO_Name__c":"Fetal distress","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000573","HPO_Synonym__c":"Retinal bleeding; Retinal hemorrhages","HPO_Name__c":"Retinal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pathological deposition of calcium salts in one or more arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003207","HPO_Name__c":"Arterial calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012457","HPO_Name__c":"Medial calcification of medium-sized arteries","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001714","HPO_Name__c":"Ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032553","HPO_Name__c":"Weak pulse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025169","HPO_Name__c":"Left ventricular systolic dysfunction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001102","HPO_Synonym__c":"Angioid streaks of the fundus; Angioid streaks of the retina; Angioid streaks, retina; Knapp streaks; Laquer cracks of the retina","HPO_Name__c":"Angioid streaks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","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:51608","HPO_Frequency__c":"Frequent (30-79%)","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:51608","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040197","HPO_Synonym__c":"Cerebral softening","HPO_Name__c":"Encephalomalacia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51608","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004940","HPO_Name__c":"Generalized arterial calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Vascular Medicine","Pediatrics"]},"synonyms":["generalised arterial calcification of infancy"," generalized arterial calcification of infancy"," idiopathic infantile arterial calcification"," idiopathic obliterative arteriopathy"," infantile arteriosclerosis"," occlusive infantile arteriopathy"]}