| Term ID: |
7182 |
| Name: |
Peripheral hypomyelination |
| Synonym: |
|
| Definition: |
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. |
| Comments: |
|
| Reference: |
HP:0007182 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Decreased number of peripheral myelinated nerve fibers (HP:0003380) 
|
..Delayed peripheral myelination (HP:0011401)
|
..Onion bulb formation (HP:0003383)
|
..Peripheral amyelination (HP:0030172)
|
..Peripheral demyelination (HP:0011096)
|
..Peripheral dysmyelination (HP:0003469)
|
..Peripheral hypermyelination (HP:0030173)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040283 - Occasional | | | 121 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | HP:0040283 - Occasional | | | 121 | | | | HP:0007182 | HP:0007182 | Peripheral hypomyelination | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
Genes (8) :CTDP1 DHX16 EGR2 FGD4 FIG4 HK1 KCNJ10 SOX10
Diseases (9) :OMIM:604168 OMIM:618733 OMIM:605253 OMIM:609311 OMIM:611228 OMIM:605285 ORPHA:199343 OMIM:612780 OMIM:609136 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
