ORPHA:284411
Glycerol kinase deficiency, juvenile form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycerol kinase deficiency, juvenile form | |
| fr | Déficit en glycérol kinase, forme juvénile | |
| de | Glycerol-Kinase-Mangel, juveniler | |
| es | Deficiencia de glicerol quinasa juvenil | |
| it | Deficit giovanile di glicerolo chinasi | |
| nl | Glycerolkinasedeficiëntie, juveniele vorm | |
| pt | Deficiência de glicerol cinase, forma juvenil | |
| pl | Niedobór kinazy glicerolu, postać młodzieńcza | |
| cs | Deficit glycerolkinázy, juvenilní forma | |
| uk | Дефіцит гліцеролкінази, ювенільна форма | |
| zh | 幼年型甘油激酶缺乏症 | |
| tr | Gliserol kinaz eksikliği, jüvenil formu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307030 | NTBT | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.1 | NTBT | attributed | validated |
| MONDO | 0017295 | E | validated | |
| UMLS | C5681029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:408Isolated glycerol kinase deficiency
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GK | Disease-causing germline mutation(s) in | Assessed | HGNC:4289 | ENSG00000198814 | 300474 | Xp21.2 | glycerol kinase | 8651297[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284411
- This record as JSON: /data/d/284411.json