eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neuroaxonal dystrophy | ||||
| Disease ID | 1744 |
|---|---|
| Disease | neuroaxonal dystrophy |
| Definition | A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) |
| Synonym | dystrophy, neuroaxonal neuroaxonal dystrophies neuroaxonal dystrophies [disease/finding] neuroaxonal dystrophy (disorder) |
| DOID | |
| UMLS | C0338473 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 617 | BCS1L | 4.42 | DISEASES 1621 | DBH | 1.712 | DISEASES 285489 | DOK7 | 2.444 | DISEASES 1798 | DPAGT1 | 1.927 | DISEASES 6624 | FSCN1 | 1.494 | DISEASES 2596 | GAP43 | 1.614 | DISEASES 3963 | LGALS7 | 1.666 | DISEASES 4133 | MAP2 | 1.454 | DISEASES 4359 | MPZ | 1.726 | DISEASES 4668 | NAGA | 5.28 | DISEASES 4803 | NGF | 3.008 | DISEASES 4908 | NTF3 | 2.529 | DISEASES 4914 | NTRK1 | 2.538 | DISEASES 8398 | PLA2G6 | 5.237 | DISEASES 5360 | PLTP | 1.909 | DISEASES 6014 | RIT2 | 1.667 | DISEASES 10479 | SLC9A6 | 2.62 | DISEASES 84679 | SLC9A7 | 2.873 | DISEASES 6609 | SMPD1 | 1.431 | DISEASES 6622 | SNCA | 2.941 | DISEASES 6863 | TAC1 | 1.288 | DISEASES 9895 | TECPR2 | 3.678 | DISEASES 7054 | TH | 2.17 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1744 |
|---|---|
| Disease | neuroaxonal dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1744 |
|---|---|
| Disease | neuroaxonal dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0026846 | muscular atrophy |
| 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) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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 | 1744 |
|---|---|
| Disease | neuroaxonal dystrophy |
| Case | (Waiting for update.) |