{"Name":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","DiseaseID__c":"GARD:0000604","id":604,"encodedName":"autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","Xref_IDs__c":"719518004; C4304669; DOID:0111244; MEDGEN:930338; MONDO:0007083; OMIM:104100; ORPHA:1010","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007083","Disease_Description__c":"A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.","GARD_Name__c":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","GARD_Synonym__c":"autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome; palmoplantar keratoderma and congenital alopecia 1; palmoplantar keratoderma and congenital alopecia stevanovic type; palmoplantar keratoderma and congenital alopecia type 1; palmoplantar keratoderma and congenital alopecia, stevanovic type; palmoplantar keratoderma with congenital alopecia; ppk-ca, stevanovic type; ppkca, stevanovic type","Curated_Disease_Description_Source__c":"MONDO:0007083","Curated_Disease_Description__c":"A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.","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:1010","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007083","ORPHANET_ID__c":"ORPHA:1010","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar autosómica dominante y alopecia congénita","Spanish_Description_Source__c":"ORPHA:1010","Spanish_Description__c":"Es un trastorno genético de la piel poco frecuente caracterizado por la ausencia de pelo en el cuero cabelludo y en el cuerpo junto a queratodermia palmoplantar, sin otras complicaciones en las manos.","Spanish_Disease_Name__c":"queratodermia palmoplantar autosómica dominante y alopecia congénita","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar autosómica dominante y alopecia congénita; ppk-ca tipo stevanovic; queratodermia palmoplantar y alopecia congénita tipo stevanovic","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":"A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.","Curated_Disease_Description_Source__c":"MONDO:0007083","GARD_Synonym__c":"autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome; palmoplantar keratoderma and congenital alopecia 1; palmoplantar keratoderma and congenital alopecia stevanovic type; palmoplantar keratoderma and congenital alopecia type 1; palmoplantar keratoderma and congenital alopecia, stevanovic type; palmoplantar keratoderma with congenital alopecia; ppk-ca, stevanovic type; ppkca, stevanovic type","Name":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1010"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1010"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000604","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304669","Source__c":"C4304669","Xref__c":"C4304669"},{"URL__c":"https://www.omim.org/entry/104100","Source__c":"C4304669; MONDO:0007083; ORPHA:1010","Xref__c":"OMIM:104100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719518004","Source__c":"C4304669; MONDO:0007083","Xref__c":"719518004"},{"URL__c":"https://www.orpha.net/en/disease/detail/1010","Source__c":"C4304669; MONDO:0007083; ORPHA:1010","Xref__c":"ORPHA:1010"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111244","Source__c":"MONDO:0007083","Xref__c":"DOID:0111244"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930338","Source__c":"C4304669","Xref__c":"MEDGEN:930338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007083","Source__c":"GARD:0000604","Xref__c":"MONDO:0007083"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gja1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012785","HPO_Synonym__c":"Flexion deformity of finger","HPO_Name__c":"Flexion contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Very frequent (80-99%)","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:1010","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral absence of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009900","HPO_Synonym__c":"Deafness in one ear; Deafness, unilateral","HPO_Name__c":"Unilateral deafness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges through a defect of the skull or vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002435","HPO_Name__c":"Meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","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"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031057","HPO_Synonym__c":"Cracked skin; Skin fissuring","HPO_Name__c":"Skin fissure","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002298","HPO_Synonym__c":"Absent hair","HPO_Name__c":"Absent hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","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:1010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032152","HPO_Synonym__c":"Carpet tack sign; Chicken skin; Follicular keratosis; Follicular keratotic plug; Follicular plugging; Hyperkeratosis pilaris; Lichen pilaris","HPO_Name__c":"Keratosis pilaris","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009886","HPO_Name__c":"Trichorrhexis nodosa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized thickening and tightness of the skin of the fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011838","HPO_Name__c":"Sclerodactyly","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001807","HPO_Synonym__c":"Grooved nails; Longitudinal ridging; Nail ridging","HPO_Name__c":"Ridged nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002223","HPO_Synonym__c":"Absent eyebrow; Absent eyebrows; Failure of development of eyebrows","HPO_Name__c":"Absent eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001041","HPO_Synonym__c":"Blushed cheeks; Blushing; Red face; Red in the face","HPO_Name__c":"Facial erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced or lacking hair growth in a generalized distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004528","HPO_Synonym__c":"Hypotrichosis, generalized","HPO_Name__c":"Generalized hypotrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1010","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"," keratoderma-hypotrichosis-leukonychia totalis syndrome"," palmoplantar keratoderma and congenital alopecia 1"," palmoplantar keratoderma and congenital alopecia stevanovic type"," palmoplantar keratoderma and congenital alopecia type 1"," palmoplantar keratoderma and congenital alopecia, stevanovic type"," palmoplantar keratoderma with congenital alopecia"," ppk-ca, stevanovic type"," ppkca, stevanovic type"]}