{"Name":"Lamellar ichthyosis","DiseaseID__c":"GARD:0010803","id":10803,"encodedName":"lamellar-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Lamellar ichthyosis","Xref_IDs__c":"205550003; C5848247; C84805; MEDGEN:1852191; MONDO:0017778; ORPHA:313; Q80.2","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017778","Disease_Description__c":"A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.","GARD_Name__c":"Lamellar ichthyosis","GARD_Synonym__c":"classic lamellar ichthyosis; collodion baby; congenital lamellar ichthyosis; li","Curated_Disease_Description_Source__c":"GARD:0010803","Curated_Disease_Description__c":"Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:313","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017778","ORPHANET_ID__c":"ORPHA:313","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis lamelar","Spanish_Description_Source__c":"ORPHA:313","Spanish_Description__c":"Es una ictiosis congénita autosómica recesiva poco frecuente caracterizada por la presencia de grandes escamas en todo el cuerpo sin una eritrodermia significativa.","Spanish_Disease_Name__c":"ictiosis lamelar","Spanish_GARD_Synonym__c":"ictiosis laminar; il","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":"Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).","Curated_Disease_Description_Source__c":"GARD:0010803","GARD_Synonym__c":"classic lamellar ichthyosis; collodion baby; congenital lamellar ichthyosis; li","Name":"Lamellar ichthyosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"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":"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:313"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010803","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/C84805","Source__c":"C5848247; MONDO:0017778","Xref__c":"C84805"},{"URL__c":"https://www.orpha.net/en/disease/detail/313","Source__c":"C5848247; MONDO:0017778; ORPHA:313","Xref__c":"ORPHA:313"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1852191","Source__c":"C5848247","Xref__c":"MEDGEN:1852191"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848247","Source__c":"C5848247","Xref__c":"C5848247"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205550003","Source__c":"C5848247","Xref__c":"205550003"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q80.2","Source__c":"MONDO:0017778","Xref__c":"Q80.2"},{"URL__c":"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis","Source__c":"GARD:0010803","Xref__c":"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017778","Source__c":"GARD:0010803","Xref__c":"MONDO:0017778"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ASPRV1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SULT2B1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOXE3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aloxe3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCA12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TGM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NIPAL4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYP4F22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALOX12B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alox12b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SDR9C7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Very frequent (80-99%)","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:313","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:313","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011039","HPO_Synonym__c":"Abnormal helices; Abnormality of the helix; Helix abnormal","HPO_Name__c":"Abnormal helix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","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:313","HPO_Frequency__c":"Occasional (5-29%)","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:313","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:313","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","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:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","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:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","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:313","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313","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:313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["classic lamellar ichthyosis"," collodion baby"," congenital lamellar ichthyosis"," li"]}