{"Name":"Hidrotic ectodermal dysplasia syndrome","DiseaseID__c":"GARD:0002056","id":2056,"encodedName":"hidrotic-ectodermal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hidrotic ectodermal dysplasia syndrome","Xref_IDs__c":"54209007; C0162361; DOID:14693; MEDGEN:56416; MONDO:0007510; OMIM:129500; ORPHA:189","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","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:0007510","Disease_Description__c":"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.","GARD_Name__c":"Hidrotic ectodermal dysplasia syndrome","GARD_Synonym__c":"autosomal dominant hidrotic ectodermal dysplasia; clouston hidrotic ectodermal dysplasia; clouston syndrome; clouston's hidrotic ectodermal dysplasia; clouston's syndrome; ectodermal dysplasia 2, clouston type; ectodermal dysplasia 2, hidrotic; gjb6; hidrotic ectodermal dysplasia","Curated_Disease_Description_Source__c":"GARD:0002056","Curated_Disease_Description__c":"Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder. Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:189","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007510","ORPHANET_ID__c":"ORPHA:189","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ectodérmica hidrótica","Spanish_Description_Source__c":"ORPHA:189","Spanish_Description__c":"Es un síndrome caracterizado por la tríada clínica de distrofia ungueal, alopecia e hiperqueratosis palmoplantar.","Spanish_Disease_Name__c":"displasia ectodérmica hidrótica","Spanish_GARD_Synonym__c":"síndrome de clouston","Category_Linearization__c":"ORPHA:93890","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":"Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder. Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).","Curated_Disease_Description_Source__c":"GARD:0002056","GARD_Synonym__c":"autosomal dominant hidrotic ectodermal dysplasia; clouston hidrotic ectodermal dysplasia; clouston syndrome; clouston's hidrotic ectodermal dysplasia; clouston's syndrome; ectodermal dysplasia 2, clouston type; ectodermal dysplasia 2, hidrotic; gjb6; hidrotic ectodermal dysplasia","Name":"Hidrotic ectodermal dysplasia syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:189"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162361"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002056","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1200","Source__c":"Gene Review","Xref__c":"NBK1200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14693","Source__c":"MONDO:0007510","Xref__c":"DOID:14693"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162361","Source__c":"C0162361","Xref__c":"C0162361"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54209007","Source__c":"C0162361; MONDO:0007510","Xref__c":"54209007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56416","Source__c":"C0162361","Xref__c":"MEDGEN:56416"},{"URL__c":"https://www.omim.org/entry/129500","Source__c":"C0162361; MONDO:0007510; ORPHA:189","Xref__c":"OMIM:129500"},{"URL__c":"https://www.orpha.net/en/disease/detail/189","Source__c":"C0162361; MONDO:0007510; ORPHA:189","Xref__c":"ORPHA:189"},{"URL__c":"https://medlineplus.gov/genetics/condition/clouston-syndrome","Source__c":"GARD:0002056","Xref__c":"https://medlineplus.gov/genetics/condition/clouston-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007510","Source__c":"GARD:0002056","Xref__c":"MONDO:0007510"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007529","Source__c":"C0162361","Xref__c":"HP:0007529"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002221","HPO_Name__c":"Absent axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fragile, easily breakable scalp hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004779","HPO_Synonym__c":"Brittle scalp hair","HPO_Name__c":"Brittle scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","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:189","HPO_Frequency__c":"Occasional (5-29%)","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:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nails whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008383","HPO_Synonym__c":"Slow-growing nails","HPO_Name__c":"Slow-growing nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nail that is diminished in length and width, i.e., underdeveloped nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001792","HPO_Synonym__c":"Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails","HPO_Name__c":"Small nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031288","HPO_Name__c":"Cobblestone-like hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","HPO_Frequency__c":"Occasional (5-29%)","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:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002555","HPO_Synonym__c":"Absent pubic hair","HPO_Name__c":"Absent pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","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:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of a metacarpophalangeal joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011911","HPO_Synonym__c":"Abnormality of metacarpophalangeal joint; Abnormality of the knuckle","HPO_Name__c":"Abnormal metacarpophalangeal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","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"}},{"Provided_By__c":"ORPHA:189","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 that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Frequent (30-79%)","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:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["autosomal dominant hidrotic ectodermal dysplasia"," clouston hidrotic ectodermal dysplasia"," clouston syndrome"," clouston's hidrotic ectodermal dysplasia"," clouston's syndrome"," ectodermal dysplasia 2, clouston type"," ectodermal dysplasia 2, hidrotic"," gjb6"," hidrotic ectodermal dysplasia"]}