{"Name":"Polyneuropathy-hand defect syndrome","DiseaseID__c":"GARD:0002589","id":2589,"encodedName":"polyneuropathy-hand-defect-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Polyneuropathy-hand defect syndrome","Xref_IDs__c":"C1859752; C535624; MEDGEN:349240; MONDO:0008809; OMIM:207740; ORPHA:2926","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008809","Disease_Description__c":"Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.","GARD_Name__c":"Polyneuropathy-hand defect syndrome","GARD_Synonym__c":"aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy; congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy; digital extensor muscle aplasia-polyneuropathy; hamanishi ueba tsuji syndrome; hamanishi-ueba-tsuji syndrome","Curated_Disease_Description_Source__c":"MONDO:0008809","Curated_Disease_Description__c":"Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2926","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008809","ORPHANET_ID__c":"ORPHA:2926","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia de los músculos extensores de los dedos-polineuropatía","Spanish_Description_Source__c":"ORPHA:2926","Spanish_Description__c":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por deformidades en flexión del pulgar y demás dedos de la mano, déficit sensitivo en la mano y hallazgos electrofisiológicos de polineuropatía en las extremidades. La intervención quirúrgica en las manos revela ausencia o hipoplasia de los músculos extensores y sus tendones. No se han descrito más casos en la literatura desde 1986.","Spanish_Disease_Name__c":"aplasia de los músculos extensores de los dedos-polineuropatía","Spanish_GARD_Synonym__c":"aplasia congénita de los músculos extensores de los dedos asociada a polineuropatía generalizada; síndrome de hamanishi-ueba-tsuji; síndrome de polineuropatía-defecto de la mano","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":"Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.","Curated_Disease_Description_Source__c":"MONDO:0008809","GARD_Synonym__c":"aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy; congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy; digital extensor muscle aplasia-polyneuropathy; hamanishi ueba tsuji syndrome; hamanishi-ueba-tsuji syndrome","Name":"Polyneuropathy-hand defect syndrome","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":"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"Neonatal","Provided_By__c":"ORPHA:2926"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535624","Source__c":"MONDO:0008809","Xref__c":"C535624"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859752","Source__c":"C1859752","Xref__c":"C1859752"},{"URL__c":"https://www.orpha.net/en/disease/detail/2926","Source__c":"C1859752; MONDO:0008809","Xref__c":"ORPHA:2926"},{"URL__c":"https://www.omim.org/entry/207740","Source__c":"C1859752; MONDO:0008809; ORPHA:2926","Xref__c":"OMIM:207740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349240","Source__c":"C1859752","Xref__c":"MEDGEN:349240"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008809","Source__c":"GARD:0002589","Xref__c":"MONDO:0008809"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of temperature homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004370","HPO_Synonym__c":"Abnormality of temperature regulation; Impaired temperature control; Impaired temperature regulation; Inability to control temperature; Inability to regulate temperature; Poor control of temperature; Poor regulation of temperature; Poor temperature control; Poor temperature regulation; Unable to control temperature","HPO_Name__c":"Abnormality of temperature regulation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","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":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001460","HPO_Synonym__c":"Absent/small skeletal muscles; Absent/underdeveloped skeletal muscles","HPO_Name__c":"Aplasia/Hypoplasia involving the skeletal musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040129","HPO_Synonym__c":"Abnormal nerve conduction; Abnormal nerve conduction velocities; Nerve conduction abnormalities","HPO_Name__c":"Abnormal nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:2926","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007328","HPO_Synonym__c":"Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation","HPO_Name__c":"Impaired pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy"," congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy"," digital extensor muscle aplasia-polyneuropathy"," hamanishi ueba tsuji syndrome"," hamanishi-ueba-tsuji syndrome"]}