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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive distal hereditary motor neuronopathy 1
Summary
- Synonym
-
- DSMA1
- SIANRF
- SMARD1
- autosomal recessive distal spinal muscular atrophy 1
- autosomal recessive spinal muscular atrophy with respiratory distress
- dHMN6
- diaphragmatic spinal muscular atrophy
- distal hereditary motor neuropathy type 6
- distal spinal muscular atrophy 1
- distal-HMN type 6
- severe infantile axonal neuropathy with respiratory failure type 1
- spinal muscular atrophy with respiratory distress type 1
- Definition
- A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
- Super Class
- autosomal recessive distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111064
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 847 | CAT | catalase | |
| 2220 | FCN2 | ficolin 2 | |
| 2526 | FUT4 | fucosyltransferase 4 | |
| 2674 | GFRA1 | GDNF family receptor alpha 1 | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3099 | HK2 | hexokinase 2 | |
| 4907 | NT5E | 5'-nucleotidase ecto |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P04040 | Catalase | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P07741 | Adenine phosphoribosyltransferase | |
| P21589 | 5'-nucleotidase | |
| P22083 | Alpha-(1,3)-fucosyltransferase 4 | |
| P22303 | Acetylcholinesterase | |
| P52789 | Hexokinase-2 | |
| P56159 | GDNF family receptor alpha-1 | |
| Q13510 | Acid ceramidase |
