{"Name":"Piebaldism","DiseaseID__c":"GARD:0004344","id":4344,"encodedName":"piebaldism","IsDeleted":false,"Disease_Name_Full__c":"Piebaldism","Xref_IDs__c":"6479008; 718122005; C0080024; C85009; D016116; DOID:3263; MEDGEN:36361; MONDO:0008244; OMIM:172800; ORPHA:2884","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008244","Disease_Description__c":"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.","GARD_Name__c":"Piebaldism","GARD_Synonym__c":"partial albinism; piebald skin depigmentation; piebald trait","Curated_Disease_Description_Source__c":"GARD:0004344","Curated_Disease_Description__c":"Piebaldism is a condition characterized by the absence of cells  called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented. People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas. In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2884","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008244","ORPHANET_ID__c":"ORPHA:2884","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Piebaldismo","Spanish_Description_Source__c":"ORPHA:2884","Spanish_Description__c":"El piebaldismo es un trastorno raro y congénito de la pigmentación de la piel que se caracteriza por la presencia de áreas de la piel hipopigmentadas y despigmentadas (leucoderma) en varias partes del cuerpo, mayoritariamente en la frente, el pecho, el abdomen, la parte superior de los brazos y las extremidades inferiores, que están asociadas con mechones blancos (poliosis) y, en algunos casos, con cejas y pestañas hipopigmentadas y despigmentadas.","Spanish_Disease_Name__c":"piebaldismo","Spanish_GARD_Synonym__c":null,"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":"Piebaldism is a condition characterized by the absence of cells  called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented. People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas. In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.","Curated_Disease_Description_Source__c":"GARD:0004344","GARD_Synonym__c":"partial albinism; piebald skin depigmentation; piebald trait","Name":"Piebaldism","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:2884"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2884"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0080024"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004344","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3263","Source__c":"MONDO:0008244","Xref__c":"DOID:3263"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016116","Source__c":"C0080024; MONDO:0008244","Xref__c":"D016116"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0080024","Source__c":"C0080024","Xref__c":"C0080024"},{"URL__c":"https://www.orpha.net/en/disease/detail/2884","Source__c":"C0080024; MONDO:0008244; ORPHA:2884","Xref__c":"ORPHA:2884"},{"URL__c":"https://www.omim.org/entry/172800","Source__c":"C0080024; MONDO:0008244; ORPHA:2884","Xref__c":"OMIM:172800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85009","Source__c":"C0080024; MONDO:0008244","Xref__c":"C85009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=36361","Source__c":"C0080024","Xref__c":"MEDGEN:36361"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6479008","Source__c":"MONDO:0008244","Xref__c":"6479008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718122005","Source__c":"C0080024","Xref__c":"718122005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008244","Source__c":"GARD:0004344","Xref__c":"MONDO:0008244"},{"URL__c":"https://medlineplus.gov/genetics/condition/piebaldism","Source__c":"GARD:0004344","Xref__c":"https://medlineplus.gov/genetics/condition/piebaldism"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007544","Source__c":"C0080024","Xref__c":"HP:0007544"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kit","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","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:2884","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007544","HPO_Synonym__c":"Piebaldism","HPO_Name__c":"Piebald skin depigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002683","HPO_Synonym__c":"Abnormality of calvarium; Abnormality of cranial vault; Abnormality of the calvaria; Abnormality of the shape of calvarium; Abnormality of the skull cap; Abnormality of the skullcap","HPO_Name__c":"Abnormal calvaria morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A triangular depigmented region of white hairs located in the anterior midline of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002211","HPO_Synonym__c":"Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead","HPO_Name__c":"White forelock","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002226","HPO_Synonym__c":"Depigmented eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow","HPO_Name__c":"White eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002227","HPO_Synonym__c":"Blonde eyelashes; Depigmented eyelashes; Pale eyelashes; White eyelashes","HPO_Name__c":"White eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2884","HPO_Frequency__c":"Very frequent (80-99%)","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:2884","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["partial albinism"," piebald skin depigmentation"," piebald trait"]}