{"Name":"Congenital hypotrichosis with juvenile macular dystrophy","DiseaseID__c":"GARD:0003066","id":3066,"encodedName":"congenital-hypotrichosis-with-juvenile-macular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Congenital hypotrichosis with juvenile macular dystrophy","Xref_IDs__c":"C1832162; C537698; DOID:0110711; MEDGEN:316921; MONDO:0011107; OMIM:601553; ORPHA:1573","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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:0011107","Disease_Description__c":"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.","GARD_Name__c":"Congenital hypotrichosis with juvenile macular dystrophy","GARD_Synonym__c":"hjmd; hypotrichosis with cone-rod dystrophy; hypotrichosis with juvenile macular degeneration; hypotrichosis with juvenile macular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0011107","Curated_Disease_Description__c":"Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.","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:1573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011107","ORPHANET_ID__c":"ORPHA:1573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Degeneración macular juvenil con hipotricosis","Spanish_Description_Source__c":"ORPHA:1573","Spanish_Description__c":"La hipotricosis con degeneración macular juvenil (HJMD) es un síndrome muy poco frecuente caracterizado por un pelo escaso y corto desde el nacimiento, seguido por una degeneración macular progresiva de la retina que ocasiona ceguera.","Spanish_Disease_Name__c":"degeneración macular juvenil con hipotricosis","Spanish_GARD_Synonym__c":"distrofia macular juvenil con hipotricosis; hjmd","Category_Linearization__c":"ORPHA:97966","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 with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.","Curated_Disease_Description_Source__c":"MONDO:0011107","GARD_Synonym__c":"hjmd; hypotrichosis with cone-rod dystrophy; hypotrichosis with juvenile macular degeneration; hypotrichosis with juvenile macular dystrophy","Name":"Congenital hypotrichosis with juvenile macular dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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:1573"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1573"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832162"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003066","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832162","Source__c":"C1832162","Xref__c":"C1832162"},{"URL__c":"https://www.omim.org/entry/601553","Source__c":"C1832162; MONDO:0011107; ORPHA:1573","Xref__c":"OMIM:601553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=316921","Source__c":"C1832162","Xref__c":"MEDGEN:316921"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110711","Source__c":"MONDO:0011107","Xref__c":"DOID:0110711"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537698","Source__c":"MONDO:0011107","Xref__c":"C537698"},{"URL__c":"https://www.orpha.net/en/disease/detail/1573","Source__c":"C1832162; MONDO:0011107; ORPHA:1573","Xref__c":"ORPHA:1573"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011107","Source__c":"GARD:0003066","Xref__c":"MONDO:0011107"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDH3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","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:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003777","HPO_Synonym__c":"Flattened and twisted hair","HPO_Name__c":"Pili torti","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008002","HPO_Synonym__c":"Abnormality of macular pigmentation","HPO_Name__c":"Abnormal macular pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","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:1573","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of bones of the arms or legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002813","HPO_Synonym__c":"Abnormal shape of limb bone; Abnormality of limb bone morphology; Arm and/or leg bone differences; Limb abnormality","HPO_Name__c":"Abnormal limb bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Frequent (30-79%)","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:1573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100326","HPO_Name__c":"Immunologic hypersensitivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Retinal","Pediatrics"],"Account":["Dermatology","Retinal","Ectodermal dysplasia"]},"synonyms":["hjmd"," hypotrichosis with cone-rod dystrophy"," hypotrichosis with juvenile macular degeneration"," hypotrichosis with juvenile macular dystrophy"]}