Hypomyelination of early myelinating structures
Synonyms: HEMS
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic neurological disorder characterized by hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination of early myelinating structures | HEMS |
| fr | Hypomyélinisation des structures myélinisantes précoces | = en |
| de | Hypomyelinisierung der früh myelinisierenden Strukturen | |
| es | Hipomielinización de estructuras milelinizadas a temprana edad | = en |
| it | Ipomielinizzazione delle strutture a mielinizzazione precoce | = en |
| nl | Hypomyelinisatie van vroeg myeliniserende structuren | = en |
| pt | Hipomielinização de estruturas mielizadas precocemente | = en |
| pl | Hipomielinizacja struktur z wczesnym wytwarzaniem mieliny | = en |
| cs | Hypomyelinizace časných myelinizovaných struktur | = en |
| uk | Гіпомієлінізація ранніх мієлінізуючих структур | = en |
| zh | Hypomyelination of early myelinating structures | = en |
| tr | Hypomyelination of early myelinating structures | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G37.8 | NTBT | attributed | validated |
| MONDO | 0035398 | E | validated | |
| UMLS | C5680278 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 26125040[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 26125040[PMID]_33450882[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26125040[PMID]_33450882[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/599376
- This record as JSON: /data/d/599376.json