{"Name":"Loricrin keratoderma","DiseaseID__c":"GARD:0016719","id":16719,"encodedName":"loricrin-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Loricrin keratoderma","Xref_IDs__c":"717183001; C1858805; C565826; MEDGEN:395099; MONDO:0011396; OMIM:604117; ORPHA:79395","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0011396","Disease_Description__c":"A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.","GARD_Name__c":"Loricrin keratoderma","GARD_Synonym__c":"camisa disease; keratoderma hereditarium mutilans with ichthyosis; keratoderma hereditarium mutilans with ichthyosis syndrome; keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome; keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; vohwinkel ichthyosis syndrome; vohwinkel syndrome with ichthyosis","Curated_Disease_Description_Source__c":"ORPHA:79395","Curated_Disease_Description__c":"Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79395","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011396","ORPHANET_ID__c":"ORPHA:79395","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia hereditaria mutilante con ictiosis","Spanish_Description_Source__c":"ORPHA:79395","Spanish_Description__c":"Es una queratodermia palmoplantar difusa caracterizada por hiperqueratosis palmoplantar en panal, asociada a pseudoainhum de los dedos meñiques de las manos, ictiosis y sordera. Sigue un patrón de herencia autosómico dominante.","Spanish_Disease_Name__c":"queratodermia hereditaria mutilante con ictiosis","Spanish_GARD_Synonym__c":"enfermedad de camisa; queratodermia loricrina; queratodermia-dermatosis ictiosiforme-beta-glucuronidasa elevada; síndrome de vohwinkel-ictiosis","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":"Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.","Curated_Disease_Description_Source__c":"ORPHA:79395","GARD_Synonym__c":"camisa disease; keratoderma hereditarium mutilans with ichthyosis; keratoderma hereditarium mutilans with ichthyosis syndrome; keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome; keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; vohwinkel ichthyosis syndrome; vohwinkel syndrome with ichthyosis","Name":"Loricrin keratoderma","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":"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":"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:79395"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79395"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/604117","Source__c":"C1858805; MONDO:0011396; ORPHA:79395","Xref__c":"OMIM:604117"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717183001","Source__c":"C1858805; MONDO:0011396","Xref__c":"717183001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565826","Source__c":"MONDO:0011396","Xref__c":"C565826"},{"URL__c":"https://www.orpha.net/en/disease/detail/79395","Source__c":"C1858805; MONDO:0011396; ORPHA:79395","Xref__c":"ORPHA:79395"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395099","Source__c":"C1858805","Xref__c":"MEDGEN:395099"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858805","Source__c":"C1858805","Xref__c":"C1858805"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011396","Source__c":"GARD:0016719","Xref__c":"MONDO:0011396"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LORICRIN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/loricrin","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007465","HPO_Name__c":"Honeycomb palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypergranulosis is an increased thickness of the stratum granulosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025114","HPO_Name__c":"Hypergranulosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032541","HPO_Synonym__c":"DDN; Dorsal dupuytren nodules; Knuckle pads on dorsal aspect of finger joints","HPO_Name__c":"Knuckle pad","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007503","HPO_Name__c":"Generalized ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","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:79395","HPO_Frequency__c":"Excluded (0%)","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:79395","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025525","HPO_Name__c":"Scaling skin on fingertip","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A narrow segment of significantly reduced circumference of a digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010491","HPO_Synonym__c":"Amniotic constriction rings of digits","HPO_Name__c":"Digital constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of an anuclear keratin layer","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040162","HPO_Name__c":"Orthokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001805","HPO_Synonym__c":"Dystrophic thickened nails; Onychogryposis; Thick nail; Thickened nails","HPO_Name__c":"Onychogryphosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79395","HPO_Frequency__c":"Frequent (30-79%)","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:79395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["camisa disease"," keratoderma hereditarium mutilans with ichthyosis"," keratoderma hereditarium mutilans with ichthyosis syndrome"," keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome"," keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome"," vohwinkel ichthyosis syndrome"," vohwinkel syndrome with ichthyosis"]}