eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary sensory and autonomic neuropathy type iv | ||||
| Disease ID | 1975 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type iv |
| Definition | A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures. |
| Synonym | autosomal recessive hereditary sensory neuropathy cipa congen insensitivity pain anhidrosis congenital insensitivity to pain with anhidrosis congenital insensitivity to pain, anhidrosis and mental retardation congenital insensitivity to pain, anhidrosis and mental retardation (disorder) congenital sensory neuropathy with anhidrosis familial dysautonomia, type 2 familial dysautonomia, type ii hereditary insensitivity to pain with anhidrosis hereditary insensitivity to pain with anhidrosis (disorder) hereditary sensory and autonomic neuropathy 4 hereditary sensory and autonomic neuropathy iv hereditary sensory and autonomic neuropathy, type 4 hereditary sensory and autonomic neuropathy, type iv hereditary sensory autonomic neuropathy, type 4 hsan 4 hsan iv hsan type iv hsan4 insensitivity pain anhidrosis congen insensitivity to pain with anhidrosis, congenital insensitivity to pain, congenital, with anhidrosis neuropathy, congenital sensory, with anhidrosis pain insensitivity anhidrosis congen pain insensitivity with anhidrosis, congenital recessive hereditary sensory neuropathy, type iv swanson-buchanan-alvord neuropathy syndrome type iv, hsan |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0020074 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1975 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type iv |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0012531 | Pain | 29 HP:0001250 | Seizures | 1 HP:0000970 | Lack of sweating | 1 HP:0002835 | Aspiration | 1 HP:0002754 | Bone infection | 1 HP:0007626 | Osteomyelitis, especially of the mandible | 1 |
| Disease ID | 1975 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type iv |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:19) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121964866 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156876496 | G | A,C |
| rs121964866 | 10567924 | 4914 | NTRK1 | umls:C0020074 | BeFree | To define the defect of NTRK1 in CIPA patients, we have introduced one of the previously reported mutations (Gly571Arg) into both the NTRK1 and the TRK-T3 oncogene cDNAs. | 0.450314791 | 2000 | NTRK1 | 1 | 156876496 | G | A,C |
| rs121964868 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156880036 | C | T |
| rs121964869 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156873858 | A | G |
| rs121964870 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156876526 | A | G |
| rs35669708 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156881590 | G | A,C |
| rs35669708 | 10090906 | 4914 | NTRK1 | umls:C0020074 | UNIPROT | A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. | 0.450314791 | 1999 | NTRK1 | 1 | 156881590 | G | A,C |
| rs398122810 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156861141 | TG | - |
| rs606231466 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156868651 | A | T |
| rs606231467 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156876128 | G | A |
| rs6336 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156879126 | C | T |
| rs6339 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156879154 | G | T |
| rs797045059 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156866908 | A | C |
| rs797045060 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156873822 | G | C |
| rs80356673 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156860959 | C | T |
| rs80356674 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156873600 | T | A |
| rs80356675 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156876427 | C | - |
| rs80356676 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156879176 | - | T |
| rs80356677 | NA | 4914 | NTRK1 | umls:C0020074 | CLINVAR | NA | 0.450314791 | NA | NTRK1 | 1 | 156879336 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1975 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type iv |
| Case | (Waiting for update.) |