{"Name":"Autosomal recessive congenital ichthyosis 4B","DiseaseID__c":"GARD:0006568","id":6568,"encodedName":"autosomal-recessive-congenital-ichthyosis-4b","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive congenital ichthyosis 4B","Xref_IDs__c":"205548006; C0598226; C98934; DOID:0060713; MEDGEN:108615; MONDO:0009443; OMIM:242500; ORPHA:457","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009443","Disease_Description__c":"A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.","GARD_Name__c":"Autosomal recessive congenital ichthyosis 4B","GARD_Synonym__c":"arci4b; autosomal recessive congenital ichthyosis type 4b; harlequin fetus; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis; hi; ichthyosis , congenital, autosomal recessive 4b (harlequin); ichthyosis congenita, harlequin fetus type; ichthyosis congenita, harlequin type; ichthyosis fetalis, harlequin type; ichthyosis, congenital, autosomal recessive 4b (harlequin); ichthyosis, congenital, autosomal recessive type 4b","Curated_Disease_Description_Source__c":"GARD:0006568","Curated_Disease_Description__c":"Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure in babies with harlequin ichthyosis. Affected infants also have feeding problems. The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life.  Following the newborn period, the hard, skin plates are shed and the skin develops widespread scales and redness. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, babies with this disorder now have a better chance of living into childhood and early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:457","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009443","ORPHANET_ID__c":"ORPHA:457","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis arlequín","Spanish_Description_Source__c":"ORPHA:457","Spanish_Description__c":"Es una forma poco frecuente de ictiosis congénita autosómica recesiva. Está caracterizada por la presencia, al nacimiento, de escamas grandes, gruesas y con aspecto de placas afectando a todo el cuerpo, asociadas a ectropion grave, eclabio y orejas aplanadas. En fases más tardías, se transforma en una intensa eritrodermia. Es la forma más grave dentro de este grupo.","Spanish_Disease_Name__c":"ictiosis arlequín","Spanish_GARD_Synonym__c":"ictiosis congénita autosómica tipo arlequín; ictiosis congénita tipo arlequín","Category_Linearization__c":"ORPHA:89826","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":"Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure in babies with harlequin ichthyosis. Affected infants also have feeding problems. The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life.  Following the newborn period, the hard, skin plates are shed and the skin develops widespread scales and redness. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, babies with this disorder now have a better chance of living into childhood and early adulthood.","Curated_Disease_Description_Source__c":"GARD:0006568","GARD_Synonym__c":"arci4b; autosomal recessive congenital ichthyosis type 4b; harlequin fetus; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis; hi; ichthyosis , congenital, autosomal recessive 4b (harlequin); ichthyosis congenita, harlequin fetus type; ichthyosis congenita, harlequin type; ichthyosis fetalis, harlequin type; ichthyosis, congenital, autosomal recessive 4b (harlequin); ichthyosis, congenital, autosomal recessive type 4b","Name":"Autosomal recessive congenital ichthyosis 4B","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:457"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0239849"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0598226"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006568","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98934","Source__c":"MONDO:0009443","Xref__c":"C98934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108615","Source__c":"C0598226","Xref__c":"MEDGEN:108615"},{"URL__c":"https://www.orpha.net/en/disease/detail/457","Source__c":"C0598226; MONDO:0009443","Xref__c":"ORPHA:457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0598226","Source__c":"C0598226","Xref__c":"C0598226"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060713","Source__c":"MONDO:0009443","Xref__c":"DOID:0060713"},{"URL__c":"https://www.omim.org/entry/242500","Source__c":"C0598226; MONDO:0009443; ORPHA:457","Xref__c":"OMIM:242500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205548006","Source__c":"MONDO:0009443","Xref__c":"205548006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009443","Source__c":"GARD:0006568","Xref__c":"MONDO:0009443"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCA12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","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:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002047","HPO_Name__c":"Malignant hyperthermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Self-aggression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100716","HPO_Synonym__c":"Autoagression; Self injury; Self-harm; Self-injurious behavior; Self-injurious behaviors","HPO_Name__c":"Self-injurious behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An ichthyosiform abnormality of the skin with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007431","HPO_Synonym__c":"Congenital ichthyosis; Ichthyosis, congenital","HPO_Name__c":"Congenital ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An outward turning (eversion) or rotation of the eyelid margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000656","HPO_Synonym__c":"Eyelid turned out","HPO_Name__c":"Ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A turning outward of the lip or lips, that is, eversion of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012472","HPO_Synonym__c":"Eclabium; Everted lips; Outward turned lips","HPO_Name__c":"Eclabion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","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:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000364","HPO_Synonym__c":"Abnormal hearing; Hearing abnormality","HPO_Name__c":"Hearing abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001161","HPO_Synonym__c":"Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger","HPO_Name__c":"Hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["arci4b"," autosomal recessive congenital ichthyosis type 4b"," harlequin fetus"," harlequin ichthyosis"," harlequin type ichthyosis congenita"," harlequin type ichthyosis fetalis"," hi"," ichthyosis , congenital, autosomal recessive 4b (harlequin)"," ichthyosis congenita, harlequin fetus type"," ichthyosis congenita, harlequin type"," ichthyosis fetalis, harlequin type"," ichthyosis, congenital, autosomal recessive 4b (harlequin)"," ichthyosis, congenital, autosomal recessive type 4b"]}