Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary sensory neuropathy type 1F
Summary
- Synonym
-
- HSN1F
- hereditary sensory neuropathy type IF
- Definition
- A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.
- Super Class
- autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
- Disease Ontology
- DOID:0070154
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| HP:0001822 | Hallux valgus |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007328 | Impaired pain sensation |
| HP:0002600 | Hyporeflexia of lower limbs |
