{"Name":"Pierson syndrome","DiseaseID__c":"GARD:0009420","id":9420,"encodedName":"pierson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pierson syndrome","Xref_IDs__c":"723449004; C128145; C1836876; C537185; DOID:0060852; MEDGEN:373199; MONDO:0012184; OMIM:609049; ORPHA:2670","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012184","Disease_Description__c":"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.","GARD_Name__c":"Pierson syndrome","GARD_Synonym__c":"microcoria and congenital nephrosis syndrome; microcoria-congenital nephrosis syndrome; microcoria-congenital nephrotic syndrome","Curated_Disease_Description_Source__c":"GARD:0009420","Curated_Disease_Description__c":"Pierson syndrome is rare condition that mainly affects the kidneys and eyes. Symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Symptoms may include chronic kidney problems, neurodevelopmental problems, and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes in the LAMB2 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:2670","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012184","ORPHANET_ID__c":"ORPHA:2670","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pierson","Spanish_Description_Source__c":"ORPHA:2670","Spanish_Description__c":"Es una enfermedad glomerular primaria poco frecuente caracterizada por la asociación de síndrome nefrótico congénito, insuficiencia renal de aparición temprana y anomalías oculares con microcoria y graves déficits del neurodesarrollo.","Spanish_Disease_Name__c":"síndrome de pierson","Spanish_GARD_Synonym__c":"síndrome de glastre-cochat-bouvier; síndrome nefrótico-anomalías oculares","Category_Linearization__c":"ORPHA:93626","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":"Pierson syndrome is rare condition that mainly affects the kidneys and eyes. Symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Symptoms may include chronic kidney problems, neurodevelopmental problems, and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes in the LAMB2 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0009420","GARD_Synonym__c":"microcoria and congenital nephrosis syndrome; microcoria-congenital nephrosis syndrome; microcoria-congenital nephrotic syndrome","Name":"Pierson syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2670"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2670"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836876"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009420","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128145","Source__c":"C1836876; MONDO:0012184","Xref__c":"C128145"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836876","Source__c":"C1836876","Xref__c":"C1836876"},{"URL__c":"https://www.omim.org/entry/609049","Source__c":"C1836876; MONDO:0012184; ORPHA:2670","Xref__c":"OMIM:609049"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373199","Source__c":"C1836876","Xref__c":"MEDGEN:373199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537185","Source__c":"MONDO:0012184","Xref__c":"C537185"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060852","Source__c":"MONDO:0012184","Xref__c":"DOID:0060852"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723449004","Source__c":"C1836876; MONDO:0012184","Xref__c":"723449004"},{"URL__c":"https://www.orpha.net/en/disease/detail/2670","Source__c":"C1836876; MONDO:0012184; ORPHA:2670","Xref__c":"ORPHA:2670"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012184","Source__c":"GARD:0009420","Xref__c":"MONDO:0012184"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025492","HPO_Name__c":"Microcoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007968","HPO_Synonym__c":"Congenital retinal septum; Persistent fetal vasculature; Persistent hyperplasia of primary vitreous; Persistent hyperplastic primary vitreous; Persistent hypertrophic primary vitreous; Persistent posterior fetal fibrovascular sheath of the lens; Persistent tunica vasculosa lentis","HPO_Name__c":"Remnants of the hyaloid vascular system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001967","HPO_Synonym__c":"Diffuse mesangial sclerosis glomerulopathy; Mesangial sclerosis","HPO_Name__c":"Diffuse mesangial sclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001104","HPO_Name__c":"Macular hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007676","HPO_Synonym__c":"Hypoplastic iris; Iris hypoplasia; Underdeveloped iris","HPO_Name__c":"Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome with onset within the first three months of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008677","HPO_Synonym__c":"Congenital nephrosis","HPO_Name__c":"Congenital nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034375","HPO_Name__c":"Spherophakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2670","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["microcoria and congenital nephrosis syndrome"," microcoria-congenital nephrosis syndrome"," microcoria-congenital nephrotic syndrome"]}