XK-related neurodegenerative disease
Findings
No curated finding names XK-related neurodegenerative disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018945), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AcanthocytosisHPOHP:0001927
- 22 of 22 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 22 of 22 reported patients
- ChoreaHPOHP:0002072
- 18 of 19 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 10 of 11 reported patients
- Absent Achilles reflexHPOHP:0003438
- 18 of 20 reported patients
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 4 of 5 reported patients
- Myopathy
Show the remaining 13
- DystoniaHPOHP:0001332
- 5 of 13 reported patients
- SplenomegalyHPOHP:0001744
- 5 of 13 reported patients
- Areflexia of upper limbsHPOHP:0012046
- 8 of 21 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 5 of 15 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 5 of 15 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 4 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- XKHGNC:12811
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: XK-related neurodegenerative disease
- Also called
- McLeod neuroacanthocytosis syndromeMcLeod syndromeMLSX-linked McLeod syndromeXK disease