{ "id": 16223, "label": "hereditary sensory and autonomic neuropathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015364", "properties": { "xrefs": [ "DOID:0050548", "GARD:0012688", "ICD9:356.2", "MEDGEN:14355", "MESH:D009477", "NCIT:C125386", "OMIMPS:162400", "Orphanet:140471", "SCTID:11442006", "UMLS:C0027889", "icd11.foundation:1091217288" ], "synonyms": [ "CIP", "HSAN", "congenital insensitivity to pain", "congenital pain insensitivity", "hereditary sensory and autonomic neuropathy", "hereditary sensory neuropathy", "hereditary sensory peripheral neuropathy", "indifference to pain, Congenital, autosomal recessive", "hereditary sensory autonomic neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 4428, "label": "sensory peripheral neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 6950 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2491", "ICD9:356.9", "MEDGEN:101791", "NCIT:C3501", "SCTID:95662005", "UMLS:C0151313" ], "synonyms": [ "peripheral neuropathy of sensory nerve", "peripheral sensory neuropathy", "sensory nerve peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inflammation or degeneration of the sensory nerves." }, "child_count": 1, "reference_id": "MONDO:0002321" }, { "id": 19748, "label": "hereditary peripheral neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 6950, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010711", "MEDGEN:1825937", "Orphanet:98497", "UMLS:C5681733" ], "synonyms": [ "genetic peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." }, "child_count": 130, "reference_id": "MONDO:0020127" } ], "children": [ { "id": 10077, "label": "polyneuropathy-hand defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16220, 16223 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002589", "MEDGEN:349240", "MESH:C535624", "OMIM:207740", "Orphanet:2926", "UMLS:C1859752" ], "synonyms": [ "Hamanishi Ueba Tsuji syndrome", "Hamanishi-Ueba-Tsuji syndrome", "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy", "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy", "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy", "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy", "digital extensor muscle aplasia-polyneuropathy", "polyneuropathy, hand defect" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0008809" }, { "id": 10957, "label": "hereditary sensory and autonomic neuropathy type 4", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070146", "GARD:0003006", "MEDGEN:6915", "NANDO:1200553", "NANDO:2200854", "NCIT:C118633", "NORD:1236", "OMIM:256800", "Orphanet:642", "PMID:14272277", "PMID:8696348", "SCTID:62985007", "UMLS:C0020074", "icd11.foundation:1831234152" ], "synonyms": [ "CIP-anhidrosis syndrome", "HSAN4", "Hereditary Sensory and Autonomic Neuropathy Type IV", "NTRK1 hereditary sensory and autonomic neuropathy", "congenital insensitivity to pain with anhidrosis", "congenital insensitivity to pain-anhidrosis syndrome", "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1", "hereditary sensory and autonomic neuropathy type IV", "insensitivity to pain, congenital, with anhidrosis", "CIPA", "HSAN 4", "HSAN IV", "HSNAN4", "familial dysautonomia, type 2", "hereditary sensory and autonomic neuropathy 4", "hereditary sensory neuropathy type 4", "neuropathy, congenital sensory, with anhidrosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." }, "child_count": 0, "reference_id": "MONDO:0009746" }, { "id": 10962, "label": "neuropathy, hereditary sensory, atypical", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070160", "GARD:0024691", "MEDGEN:376774", "MESH:C564946", "OMIM:256860", "UMLS:C1850384" ], "synonyms": [ "neuropathy, hereditary sensory, atypical", "atypical hereditary sensory neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009751" }, { "id": 11541, "label": "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 16223, 19391, 20787 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111741", "GARD:0012731", "MEDGEN:930069", "MESH:C564472", "OMIM:300614", "Orphanet:139583", "SCTID:719838008", "UMLS:C4304400" ], "synonyms": [ "X-linked auditory neuropathy with peripheral sensory neuropathy type 1", "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "X-linked HSAN with deafness", "X-linked hereditary sensory and autonomic neuropathy with deafness", "deafness, X-linked 5, X-linked recessive", "DFNX5", "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy", "deafness, X-linked 5" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." }, "child_count": 0, "reference_id": "MONDO:0010378" }, { "id": 11832, "label": "hereditary sensory neuropathy X-linked", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070159", "GARD:0024749", "MEDGEN:333359", "MESH:C564090", "OMIM:310470", "UMLS:C1839602" ], "synonyms": [ "neuropathy, hereditary sensory, X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." }, "child_count": 0, "reference_id": "MONDO:0010688" }, { "id": 13158, "label": "hereditary sensory and autonomic neuropathy type 5", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070145", "GARD:0012328", "MEDGEN:6916", "OMIM:608654", "Orphanet:64752", "PMID:14976160", "PMID:77656", "SCTID:128206006", "UMLS:C0020075", "icd11.foundation:1411011731" ], "synonyms": [ "HSAN5", "NGF autosomal recessive hereditary sensory and autonomic neuropathy", "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF", "congenital insensitivity to pain and thermal analgesia", "hereditary sensory and autonomic neuropathy type V", "HSAN 5", "HSAN V", "insensitivity to pain, congenital", "neuropathy, hereditary sensory and autonomic, type 5", "neuropathy, hereditary sensory and autonomic, type V" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." }, "child_count": 0, "reference_id": "MONDO:0012092" }, { "id": 14853, "label": "hereditary sensory and autonomic neuropathy type 6", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070151", "GARD:0012987", "MEDGEN:761278", "OMIM:614653", "Orphanet:314381", "UMLS:C3539003" ], "synonyms": [ "DST hereditary sensory and autonomic neuropathy", "HSAN6", "familial dysautonomia with contractures", "hereditary sensory and autonomic neuropathy caused by mutation in DST", "hereditary sensory and autonomic neuropathy type VI", "HSAN 6", "neuropathy, hereditary sensory and autonomic, type 6", "neuropathy, hereditary sensory and autonomic, type VI" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." }, "child_count": 0, "reference_id": "MONDO:0013839" }, { "id": 15250, "label": "hereditary sensory and autonomic neuropathy type 7", "isLeaf": true, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070149", "GARD:0012732", "MEDGEN:816212", "NCIT:C125388", "OMIM:615548", "Orphanet:391397", "UMLS:C3809882" ], "synonyms": [ "CIP with hyperhidrosis and gastrointestinal dysfunction", "HSAN VII", "HSAN with hyperhidrosis and gastrointestinal dysfunction", "HSAN7", "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy", "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A", "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction", "hereditary sensory and autonomic neuropathy type VII", "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction", "HSAN 7", "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis", "neuropathy, hereditary sensory and autonomic, type 7", "neuropathy, hereditary sensory and autonomic, type VII" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" }, "child_count": 0, "reference_id": "MONDO:0014244" }, { "id": 15657, "label": "congenital insensitivity to pain-hypohidrosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070153", "GARD:0017866", "MEDGEN:894363", "OMIM:616488", "Orphanet:478664", "UMLS:C4225308" ], "synonyms": [ "CIP-hypohidrosis syndrome", "HSAN8", "hereditary sensory and autonomic neuropathy type 8", "hereditary sensory and autonomic neuropathy type VIII", "HSAN 8", "neuropathy, hereditary sensory and autonomic, type 8", "neuropathy, hereditary sensory and autonomic, type VIII" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." }, "child_count": 0, "reference_id": "MONDO:0014662" }, { "id": 16871, "label": "congenital insensitivity to pain with hyperhidrosis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16223 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020514", "MEDGEN:1830087", "Orphanet:217399", "UMLS:C5679817" ], "synonyms": [ "congenital absence of pain with hyperhidrosis", "congenital analgesia with hyperhidrosis", "congenital indifference to pain with hyperhidrosis", "congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016319" }, { "id": 18346, "label": "hereditary sensory and autonomic neuropathy type 1", "isLeaf": false, "isRoot": false, "parents": [ 16223, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070162", "GARD:0006635", "MEDGEN:5645", "NORD:1237", "Orphanet:36386", "PMID:18348718", "SCTID:397734008", "UMLS:C0020071", "icd11.foundation:1989773046" ], "synonyms": [ "HSAN1", "Hereditary Sensory Neuropathy Type I", "hereditary sensory and autonomic neuropathy type I", "HSAN 1", "HSN1", "hereditary sensory neuropathy type 1", "neuropathy hereditary sensory and autonomic type 1", "neuropathy hereditary sensory radicular, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." }, "child_count": 12, "reference_id": "MONDO:0018213" }, { "id": 18479, "label": "cold-induced sweating syndrome - hyperthermia spectrum", "isLeaf": false, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021708", "MEDGEN:1842440", "Orphanet:401993", "UMLS:C5681139" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0018431" }, { "id": 19659, "label": "hereditary sensory and autonomic neuropathy type 2", "isLeaf": false, "isRoot": false, "parents": [ 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070161", "GARD:0003976", "MEDGEN:42513", "NORD:1235", "Orphanet:970", "PMID:21089229", "SCTID:398148000", "UMLS:C0020072" ], "synonyms": [ "HSAN2", "Hereditary Sensory and Autonomic Neuropathy Type II", "autosomal recessive sensory radicular neuropathy", "hereditary sensory and autonomic neuropathy type II", "neurogenic acroosteolysis", "Giaccai type acroosteolysis", "hereditary sensory neuropathy type 2", "hereditary sensory radicular neuropathy, recessive form" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." }, "child_count": 3, "reference_id": "MONDO:0019941" } ], "roots": [ { "id": 4428, "label": "sensory peripheral neuropathy" }, { "id": 19748, "label": "hereditary peripheral neuropathy" } ] }