eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary sensory and autonomic neuropathy type 1 | ||||
| Disease ID | 1948 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type 1 |
| Synonym | acrodystrophic neuropathy autosomal dominant sensory neuropathy autosomal dominant sensory neuropathy (disorder) dominant hereditary sensory neuropathy, type i hereditary sensory and autonomic neuropathy type i hereditary sensory and autonomic neuropathy type i (disorder) hereditary sensory and autonomic neuropathy, type i hereditary sensory and autonomic neuropathy, type i (disorder) hereditary sensory autonomic neuropathy, type 1 hereditary sensory neuropathy type 1 hereditary sensory neuropathy type i hereditary sensory neuropathy type ia hsan 1 hsan i hsan ia hsan type i hsan1 hsan1a hsn ia hsn type i hsn1a neuropathy hereditary sensory and autonomic type 1 neuropathy hereditary sensory radicular, autosomal dominant neuropathy, hereditary sensory and autonomic, type i neuropathy, hereditary sensory and autonomic, type ia neuropathy, hereditary sensory radicular, autosomal dominant neuropathy, hereditary sensory radicular, autosomal dominant, type 1a neuropathy, hereditary sensory, type i neuropathy, hereditary sensory, type ia type i, hsan type i, hsn |
| Orphanet | |
| OMIM | |
| UMLS | C0020071 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0497327 | dementia | 3 C0018784 | sensorineural deafness | 2 C0155550 | neural deafness | 2 C0442874 | neuropathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1948 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type 1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000726 | Dementia | 3 HP:0012531 | Pain | 3 HP:0000407 | sensorineural hearing loss | 2 HP:0000365 | Hearing impairment | 1 HP:0002066 | Gait ataxia | 1 |
| Disease ID | 1948 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119482081 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92080045 | C | T |
| rs119482081 | 24175284 | 10558 | SPTLC1 | umls:C0020071 | BeFree | The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. | 0.484885954 | 2013 | SPTLC1 | 9 | 92080045 | C | T |
| rs119482082 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92080044 | A | C |
| rs119482082 | 22045570 | 10558 | SPTLC1 | umls:C0020071 | BeFree | In mice bearing a transgene expressing the C133W SPTLC1 mutant linked to HSAN1, a 10% L-serine–enriched diet reduced dSL levels. | 0.484885954 | 2011 | SPTLC1 | 9 | 92080044 | A | C |
| rs119482082 | 24175284 | 10558 | SPTLC1 | umls:C0020071 | BeFree | The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. | 0.484885954 | 2013 | SPTLC1 | 9 | 92080044 | A | C |
| rs119482083 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92068095 | A | T |
| rs119482084 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92038342 | C | T,G |
| rs267607087 | 24247255 | 10558 | SPTLC1 | umls:C0020071 | BeFree | Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. | 0.484885954 | 2013 | SPTLC1 | 9 | 92047261 | G | A |
| rs267607088 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92047198 | G | A |
| rs267607089 | 24175284 | 10558 | SPTLC1 | umls:C0020071 | BeFree | The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. | 0.484885954 | 2013 | SPTLC2 | 14 | 77555331 | C | A |
| rs267607090 | 24175284 | 10558 | SPTLC1 | umls:C0020071 | BeFree | The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. | 0.484885954 | 2013 | SPTLC2 | 14 | 77555401 | C | T |
| rs267607091 | 24175284 | 10558 | SPTLC1 | umls:C0020071 | BeFree | The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. | 0.484885954 | 2013 | SPTLC2 | 14 | 77518097 | T | A |
| rs797045071 | NA | 10558 | SPTLC1 | umls:C0020071 | CLINVAR | NA | 0.484885954 | NA | SPTLC1 | 9 | 92047181 | C | G |
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 | 1948 |
|---|---|
| Disease | hereditary sensory and autonomic neuropathy type 1 |
| Case | (Waiting for update.) |