{"Name":"Mutilating keratoderma","DiseaseID__c":"GARD:0003092","id":3092,"encodedName":"mutilating-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Mutilating keratoderma","Xref_IDs__c":"24559001; C0265964; C536457; DOID:0111339; MEDGEN:78579; MONDO:0007422; OMIM:124500; ORPHA:494","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0003092","Disease_Description__c":"Vohwinkel syndrome is an inherited condition that affects the skin. People with the \"classic form\" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A \"variant form\" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes in the GJB2 gene and the variant form is caused by genetic changes in the LOR gene. Both are inherited in an autosomal dominant manner.","GARD_Name__c":"Mutilating keratoderma","GARD_Synonym__c":"keratoderma hereditarium mutilans; mutilating keratoderma of vohwinkel; mutilating keratoderma plus deafness; mutilating keratoderma plus hearing loss; ppk mutilans and deafness; ppk mutilans and hearing loss; vohwinkel syndrome; vohwinkel's mutilating keratoderma; vownkl","Curated_Disease_Description_Source__c":"GARD:0003092","Curated_Disease_Description__c":"Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:494","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007422","ORPHANET_ID__c":"ORPHA:494","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia hereditaria mutilante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia hereditaria mutilante","Spanish_GARD_Synonym__c":"ppk mutilante e hipoacusia; ppk mutilante y sordera; queratodermia mutilante de vohwinkel; queratodermia mutilante más hipoacusia; queratodermia mutilante más sordera; síndrome de vohwinkel","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":"Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.","Curated_Disease_Description_Source__c":"GARD:0003092","GARD_Synonym__c":"keratoderma hereditarium mutilans; mutilating keratoderma of vohwinkel; mutilating keratoderma plus deafness; mutilating keratoderma plus hearing loss; ppk mutilans and deafness; ppk mutilans and hearing loss; vohwinkel syndrome; vohwinkel's mutilating keratoderma; vownkl","Name":"Mutilating 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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:494"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:494"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265964"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003092","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24559001","Source__c":"C0265964; MONDO:0007422","Xref__c":"24559001"},{"URL__c":"https://www.orpha.net/en/disease/detail/494","Source__c":"C0265964; MONDO:0007422; ORPHA:494","Xref__c":"ORPHA:494"},{"URL__c":"https://www.omim.org/entry/124500","Source__c":"C0265964; MONDO:0007422; ORPHA:494","Xref__c":"OMIM:124500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78579","Source__c":"C0265964","Xref__c":"MEDGEN:78579"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536457","Source__c":"MONDO:0007422","Xref__c":"C536457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265964","Source__c":"C0265964","Xref__c":"C0265964"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111339","Source__c":"MONDO:0007422","Xref__c":"DOID:0111339"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007422","Source__c":"GARD:0003092","Xref__c":"MONDO:0007422"},{"URL__c":"https://medlineplus.gov/genetics/condition/vohwinkel-syndrome","Source__c":"GARD:0003092","Xref__c":"https://medlineplus.gov/genetics/condition/vohwinkel-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:494","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:494","HPO_Frequency__c":"Very frequent (80-99%)","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:494","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007460","HPO_Name__c":"Autoamputation of digits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Very frequent (80-99%)","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:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Occasional (5-29%)","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:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009775","HPO_Synonym__c":"Amniotic bands; Congenital constriction band sequence; Pseudoainhum","HPO_Name__c":"Amniotic constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","HPO_Frequency__c":"Frequent (30-79%)","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:494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494","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:494","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:494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the spinal cord (myelon).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002143","HPO_Synonym__c":"Abnormality of the spinal cord","HPO_Name__c":"Abnormal spinal cord morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["keratoderma hereditarium mutilans"," mutilating keratoderma of vohwinkel"," mutilating keratoderma plus deafness"," mutilating keratoderma plus hearing loss"," ppk mutilans and deafness"," ppk mutilans and hearing loss"," vohwinkel syndrome"," vohwinkel's mutilating keratoderma"," vownkl"]}