{"Name":"Hypotrichosis simplex","DiseaseID__c":"GARD:0009170","id":9170,"encodedName":"hypotrichosis-simplex","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis simplex","Xref_IDs__c":"723362004; C1854310; C537160; MEDGEN:344257; MONDO:0018914; ORPHA:55654","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018914","Disease_Description__c":"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.","GARD_Name__c":"Hypotrichosis simplex","GARD_Synonym__c":"hereditary hypotrichosis simplex","Curated_Disease_Description_Source__c":"GARD:0009170","Curated_Disease_Description__c":"Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by genetic changes in the APCDD1 gene on chromosome 18p11.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:55654","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018914","ORPHANET_ID__c":"ORPHA:55654","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotricosis simple","Spanish_Description_Source__c":"ORPHA:55654","Spanish_Description__c":"La hipotricosis simple (HS) o hipotricosis hereditaria simple (HHS) se caracteriza por una pilosidad reducida en el cuero cabelludo y el resto del cuerpo (con pelo escaso, fino y corto) en ausencia de otras anomalías.","Spanish_Disease_Name__c":"hipotricosis simple","Spanish_GARD_Synonym__c":"hipotricosis hereditaria simple","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":"Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by genetic changes in the APCDD1 gene on chromosome 18p11.","Curated_Disease_Description_Source__c":"GARD:0009170","GARD_Synonym__c":"hereditary hypotrichosis simplex","Name":"Hypotrichosis simplex","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:55654"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854310"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009170","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/55654","Source__c":"C1854310; MONDO:0018914; ORPHA:55654","Xref__c":"ORPHA:55654"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537160","Source__c":"MONDO:0018914","Xref__c":"C537160"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344257","Source__c":"C1854310","Xref__c":"MEDGEN:344257"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854310","Source__c":"C1854310","Xref__c":"C1854310"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723362004","Source__c":"C1854310; MONDO:0018914","Xref__c":"723362004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018914","Source__c":"GARD:0009170","Xref__c":"MONDO:0018914"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LPAR6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lpar6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LIPH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/liph","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SNRPE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RPL21","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DSG4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dsg4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"APCDD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LSS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:55654","HPO_Frequency__c":"Very frequent (80-99%)","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:55654","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:55654","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:55654","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:55654","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:55654","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary hypotrichosis simplex"]}