{"Name":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","DiseaseID__c":"GARD:0004641","id":4641,"encodedName":"ichthyosis-intellectual-disability-dwarfism-renal-impairment-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","Xref_IDs__c":"C1855787; C536274; MEDGEN:340966; MONDO:0009446; OMIM:242530; ORPHA:2278","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009446","Disease_Description__c":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.","GARD_Name__c":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","GARD_Synonym__c":"congenital ichthyosis, mental retardation, dwarfism and renal impairment; ichthyosis intellectual deficit dwarfism renal impairment; ichthyosis mental retardation dwarfism renal impairment; passwell goodman ziprkowski syndrome; passwell-goodman-siprkowski syndrome","Curated_Disease_Description_Source__c":"MONDO:0009446","Curated_Disease_Description__c":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2278","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009446","ORPHANET_ID__c":"ORPHA:2278","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ictiosis-discapacidad intelectual-talla baja significativa-afectación renal","Spanish_Description_Source__c":"ORPHA:2278","Spanish_Description__c":"Es un síndrome caracterizado por ictiosis no bullosa congénita, déficit intelectual, enanismo e insuficiencia renal. Se ha descrito en cuatro miembros de una familia iraní. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de ictiosis-discapacidad intelectual-talla baja significativa-afectación renal","Spanish_GARD_Synonym__c":"síndrome de passwell-goodman-siprkowski","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009446","GARD_Synonym__c":"congenital ichthyosis, mental retardation, dwarfism and renal impairment; ichthyosis intellectual deficit dwarfism renal impairment; ichthyosis mental retardation dwarfism renal impairment; passwell goodman ziprkowski syndrome; passwell-goodman-siprkowski syndrome","Name":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2278"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855787","Source__c":"C1855787","Xref__c":"C1855787"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340966","Source__c":"C1855787","Xref__c":"MEDGEN:340966"},{"URL__c":"https://www.omim.org/entry/242530","Source__c":"C1855787; MONDO:0009446; ORPHA:2278","Xref__c":"OMIM:242530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536274","Source__c":"MONDO:0009446","Xref__c":"C536274"},{"URL__c":"https://www.orpha.net/en/disease/detail/2278","Source__c":"C1855787; MONDO:0009446","Xref__c":"ORPHA:2278"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009446","Source__c":"GARD:0004641","Xref__c":"MONDO:0009446"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","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:2278","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007479","HPO_Synonym__c":"Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Nonbullous congenital ichthyosiform erythroderma; Nonbullous congenital ichthyosis","HPO_Name__c":"Congenital nonbullous ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2278","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Nephrology","Dermatology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Nephrology","Dermatology","Ichthyosis"]},"synonyms":["congenital ichthyosis, mental retardation, dwarfism and renal impairment"," ichthyosis intellectual deficit dwarfism renal impairment"," ichthyosis mental retardation dwarfism renal impairment"," passwell goodman ziprkowski syndrome"," passwell-goodman-siprkowski syndrome"]}