Xp21 deletion syndrome
Synonyms: Complex GKD · Complex glycerol kinase deficiency · Del(X)(p21) · Xp21 contiguous gene deletion syndrome · Xp21 microdeletion syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xp21 deletion syndrome | Complex GKD · Complex glycerol kinase deficiency · Del(X)(p21) · Xp21 contiguous gene deletion syndrome · Xp21 microdeletion syndrome |
| fr | Syndrome de délétion Xp21 | Del(X)(p21) · Déficit en glycérol kinase complexe · Syndrome de microdélétion Xp21 · Syndrome des gènes contigus lié à une microdélétion Xp21 |
| de | Mikrodeletionssyndrom Xp21 | Del(X)(p21) · Glycerol-Kinase-Mangel, komplexer · Xp21 Contiguous gene deletion-Syndrom · Xp21-Deletionssyndrom |
| es | Síndrome de deleción Xp21 | Deficiencia de glicerol quinasa compleja · Del(X)(p21) · GKD compleja · Síndrome de deleción de genes contiguos Xp21 · Síndrome de microdeleción Xp21 |
| it | Sindrome da delezione Xp21 | Deficit complesso di glicerolo chinasi · Del(X)(p21) · GKD complesso · Sindrome da delezione di geni contigui Xp21 · Sindrome da microdelezione Xp21 |
| nl | Xp21-deletiesyndroom | Complexe GKD · Complexe deficiëntie van glycerolkinase · Del(X)(p21) · Xp21-'contiguous gene'-deletiesyndroom · Xp21-microdeletiesyndroom |
| pt | Síndrome de deleção Xp21 | AHC ligada ao X · Síndrome de microdeleção XP21 |
| pl | Zespół mikrodelecji Xp21 | Del(X)(p21) · Niedobór kinazy glicerolu - zespół przyległego genu · Zespół mikrodelecji Xp21 |
| cs | Monozomie Xp21 | Del(X)(p21) · Syndrom zahrnující deficit glycerol kinázy a přilehlých genů · Xp21 mikrodeleční syndrom |
| uk | Синдром делеції Xp21 | Комплексний GKD · Дефіцит комплексної гліцеролкінази · Del(X)(p21) · Синдром делеції зчепленого гена Xp21 · Синдром мікроделеції Xp21 |
| zh | Xp21微缺失综合征 | 甘油激酶缺乏症-邻近基因综合征 |
| tr | Xp21 mikrodelesyon sendromu | Del (X) (p21) · Xp21 bitişik gen delesyon sendromu · Gliserol kinaz eksikliği-bitişik gen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300679 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | index | validated |
| MONDO | 0010399 | E | validated | |
| UMLS | C4505291 | 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:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:308993Glycerol kinase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:263731Partial deletion of the short arm of the chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:284408OBSOLETE: Glycerol kinase deficiency, infantile form referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25917374[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25917374[PMID] |
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
32 annotations · validated 2015-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0001993 | Ketoacidosis | |
| HP:0003198 | Myopathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000939 | Osteoporosis | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001289 | Confusion | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000565 | Esotropia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0005949 | Apneic episodes in infancy | |
| HP:0001259 | Coma | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0000540 | Hypermetropia | |
| HP:0003750 | Increased muscle fatiguability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000403 | Recurrent otitis media | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9188656[PMID]_7750200[PMID]_6315281[PMID]_3766905[PMID]_6249182[PMID]_2852474[PMID]_200232[PMID]_25917374[PMID]_2883886[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261476
- This record as JSON: /data/d/261476.json