{"Name":"X-linked reticulate pigmentary disorder","DiseaseID__c":"GARD:0016756","id":16756,"encodedName":"x-linked-reticulate-pigmentary-disorder","IsDeleted":false,"Disease_Name_Full__c":"X-linked reticulate pigmentary disorder","Xref_IDs__c":"717224002; C1845050; C564461; DOID:0111834; MEDGEN:336844; MONDO:0010523; OMIM:301220; ORPHA:85453","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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:0010523","Disease_Description__c":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.","GARD_Name__c":"X-linked reticulate pigmentary disorder","GARD_Synonym__c":"familial cutaneous amyloidosis; partington disease; pdr; pigmentary disorder, reticulate, with systemic manifestations, x-linked; pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive; x-linked cutaneous amyloidosis; x-linked reticulate pigmentary disorder with systemic manifestation syndrome; xlpdr","Curated_Disease_Description_Source__c":"MONDO:0010523","Curated_Disease_Description__c":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85453","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010523","ORPHANET_ID__c":"ORPHA:85453","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno pigmentario reticular ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85453","Spanish_Description__c":"El trastorno pigmentario reticular ligado al X es una enfermedad de la piel extremadamente rara descrita sólo en cuatro familias hasta la fecha y que se caracteriza en varones por lesiones cutáneas hiperpigmentadas marrones reticuladas difusas que se desarrollan en la primera infancia y una variedad de manifestaciones sistémicas (neumonía recurrente, opacificación corneal, inflamación gastrointestinal, estenosis uretral, retraso en el desarrollo, hipohidrosis, hipocratismo digital, y cabello rebelde y cejas acampanadas), mientras que, en mujeres, tan solo se da una afección cutánea en la primera infancia con el desarrollo de lesiones cutáneas hiperpigmentadas marrones localizadas siguiendo las líneas de Blaschko. Esta enfermedad fue considerada al principio como una amiloidosis cutánea, pero los depósitos amiloides no son una característica constante.","Spanish_Disease_Name__c":"trastorno pigmentario reticular ligado al cromosoma x","Spanish_GARD_Synonym__c":"amiloidosis cutánea familiar; amiloidosis cutánea ligada al cromosoma x; enfermedad de partington; pdr; xlpdr","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":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.","Curated_Disease_Description_Source__c":"MONDO:0010523","GARD_Synonym__c":"familial cutaneous amyloidosis; partington disease; pdr; pigmentary disorder, reticulate, with systemic manifestations, x-linked; pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive; x-linked cutaneous amyloidosis; x-linked reticulate pigmentary disorder with systemic manifestation syndrome; xlpdr","Name":"X-linked reticulate pigmentary disorder","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","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":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"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:85453"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845050","Source__c":"C1845050","Xref__c":"C1845050"},{"URL__c":"https://www.omim.org/entry/301220","Source__c":"C1845050; MONDO:0010523; ORPHA:85453","Xref__c":"OMIM:301220"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111834","Source__c":"MONDO:0010523","Xref__c":"DOID:0111834"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717224002","Source__c":"C1845050; MONDO:0010523","Xref__c":"717224002"},{"URL__c":"https://www.orpha.net/en/disease/detail/85453","Source__c":"C1845050; MONDO:0010523; ORPHA:85453","Xref__c":"ORPHA:85453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564461","Source__c":"MONDO:0010523","Xref__c":"C564461"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336844","Source__c":"C1845050","Xref__c":"MEDGEN:336844"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010523","Source__c":"GARD:0016756","Xref__c":"MONDO:0010523"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:301220","Feature__r":{"HPO_Description__c":"An increased concentration of interleukin-8 in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033178","HPO_Synonym__c":"Increased serum IL-8; Increased serum interleukin 8; Increased serum interleukin-8","HPO_Name__c":"Increased circulating interleukin 8 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","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":"OMIM:301220","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","Feature__r":{"HPO_Description__c":"The presence of amyloid deposition in the superficial dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012309","HPO_Name__c":"Cutaneous amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Narrowing of the urethra associated with inflammation or scar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012227","HPO_Name__c":"Urethral stricture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007599","HPO_Name__c":"Generalized reticulate brown pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:301220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","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":"OMIM:301220","Feature__r":{"HPO_Description__c":"A reduction in the concentration of interferon gamma measured in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033253","HPO_Synonym__c":"Reduced circulating interferon gamma","HPO_Name__c":"Reduced circulating interferon gamma concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased pigmentation of the skin with a netlike (reticular) pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007588","HPO_Synonym__c":"Reticulate hyperpigmentation","HPO_Name__c":"Reticular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301220","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Ophthalmology","Rheumatology","Immunology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["familial cutaneous amyloidosis"," partington disease"," pdr"," pigmentary disorder, reticulate, with systemic manifestations, x-linked"," pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive"," x-linked cutaneous amyloidosis"," x-linked reticulate pigmentary disorder with systemic manifestation syndrome"," xlpdr"]}