McLeod neuroacanthocytosis syndrome
Synonyms: MLS · X-linked McLeod syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | McLeod neuroacanthocytosis syndrome | MLS · X-linked McLeod syndrome |
| fr | Syndrome de McLeod | Syndrome de McLeod lié à l'X |
| de | McLeod Neuro-Akanthozytose-Syndrom | |
| es | Síndrome de neurocantocitosis de McLeod | |
| it | Sindrome da neuroacantocitosi di McLeod | Sindrome di McLeod legata all'X |
| nl | Neuroacanthocytose-syndroom van McLeod | MLS · X-gebonden syndroom van McLeod |
| pt | Síndrome de neuroacantocitose McLeod | MLS · Síndrome McLeod ligada ao X |
| pl | Zespół neuroakantozy McLeoda | MLS · Zespół McLeoda sprzężony z chromosomem X |
| cs | McLeodův neuroakantocytotický syndrom | MLS · X-vázaný McLeodův syndrom |
| uk | Синдром нейроакантоцитозу Маклеода | MLS · Х-зчеплений синдром Маклеода |
| zh | McLeod 神经棘红细胞增多综合征 | X-连锁Mcleod综合征 |
| tr | McLeod nöroakantositoz sendromu | MLS · X'e bağlı McLeod sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300842 | NTBT | validated | |
| ICD-10 | G10 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0018945 | E | validated | |
| UMLS | C4510408 | E | validated | |
| GARD | 10731 | E | validated | |
| MedDRA | 10081507 | 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 (5):
- ORPHA:98366Constitutional hemolytic anemia due to acanthocytosis
rare genetic diseases; rare hematological diseases - ORPHA:263440Neuroacanthocytosis
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XK | Disease-causing germline mutation(s) in | Assessed | HGNC:12811 | ENSG00000047597 | 314850 | Xp21.1 | X-linked Kx blood group antigen, Kell and VPS13A binding protein |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 22027213[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/59306
- This record as JSON: /data/d/59306.json