{"Name":"Spastic paraplegia-neuropathy-poikiloderma syndrome","DiseaseID__c":"GARD:0004921","id":4921,"encodedName":"spastic-paraplegia-neuropathy-poikiloderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic paraplegia-neuropathy-poikiloderma syndrome","Xref_IDs__c":"C1866851; C536870; MEDGEN:355814; MONDO:0008442; OMIM:182815; ORPHA:2821","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008442","Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Spastic paraplegia-neuropathy-poikiloderma syndrome","GARD_Synonym__c":"antinolo-nieto-borrego syndrome; familial spastic paraplegia with neuropathy and poikiloderma; spastic paraplegia with neuropathy and poikiloderma","Curated_Disease_Description_Source__c":"MONDO:0008442","Curated_Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2821","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008442","ORPHANET_ID__c":"ORPHA:2821","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paraplejía espástica-neuropatía-poiquilodermia","Spanish_Description_Source__c":"ORPHA:2821","Spanish_Description__c":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por paraplejía espástica, neuropatía sensitivo-motora periférica desmielinizante, poiquilodermia (que se manifiesta con la pérdida de cejas y pestañas en la infancia además de piel delicada, suave y desgastada) y amiotrofia distal (que se presenta después de la pubertad). No ha habido más descripciones en la literatura desde 1992.","Spanish_Disease_Name__c":"síndrome de paraplejía espástica-neuropatía-poiquilodermia","Spanish_GARD_Synonym__c":"síndrome de antinolo-nieto-borrego","Category_Linearization__c":"ORPHA:98006","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":"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"MONDO:0008442","GARD_Synonym__c":"antinolo-nieto-borrego syndrome; familial spastic paraplegia with neuropathy and poikiloderma; spastic paraplegia with neuropathy and poikiloderma","Name":"Spastic paraplegia-neuropathy-poikiloderma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2821"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866851","Source__c":"C1866851","Xref__c":"C1866851"},{"URL__c":"https://www.omim.org/entry/182815","Source__c":"C1866851; MONDO:0008442; ORPHA:2821","Xref__c":"OMIM:182815"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536870","Source__c":"MONDO:0008442","Xref__c":"C536870"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355814","Source__c":"C1866851","Xref__c":"MEDGEN:355814"},{"URL__c":"https://www.orpha.net/en/disease/detail/2821","Source__c":"C1866851; MONDO:0008442","Xref__c":"ORPHA:2821"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008442","Source__c":"GARD:0004921","Xref__c":"MONDO:0008442"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"This term refers to the loss of eyelashes that were previously present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011457","HPO_Synonym__c":"Ciliary Madarosis; Eyelashes fell out; Loss of eyelashes; Milphosis; Missing eyelashes","HPO_Name__c":"Loss of eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001029","HPO_Name__c":"Poikiloderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of onion bulb formation prominently affecting the area of the basal lamina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003400","HPO_Synonym__c":"Basal lamina 'onion bulb' formations on nerve biopsy","HPO_Name__c":"Basal lamina onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007020","HPO_Name__c":"Progressive spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002064","HPO_Synonym__c":"Spastic walk","HPO_Name__c":"Spastic gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007108","HPO_Name__c":"Demyelinating peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2821","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["antinolo-nieto-borrego syndrome"," familial spastic paraplegia with neuropathy and poikiloderma"," spastic paraplegia with neuropathy and poikiloderma"]}