Mcleod syndrome

Preferred Label : Mcleod syndrome;

Symbol : MCLDS;

CISMeF acronym : MCLDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mcleod phenotype; Neuroacanthocytosis, mcleod type;

Description : Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (143100). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007). The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD; 306400) results from a contiguous gene deletion (Francke et al., 1985).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the Kell blood group protein gene (XK, 314850.0001);

Laboratory abnormalities : Elevated serum creatine levels;

Prefixed ID : #300842;

Details

Origin ID

300842;

UMLS CUI

C0398568;

Automatic exact mappings (from CISMeF team)
- McLeod syndrome [ICD-11 More detail]
- X-linked Kx blood group antigen, Kell and VPS13A binding protein [ORDO Gene]
- X-linked Kx blood group antigen, Kell and VPS13A binding protein [HGNC gene]
Currated CISMeF NLP mapping
- Blood group deletion syndrome (disorder) [SNOMED CT concept]
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
- McLeod neuroacanthocytosis syndrome [ICD-11 More detail]
- McLeod neuroacanthocytosis syndrome (disorder) [SNOMED CT concept]
- McLeod phenotype (finding) [SNOMED CT concept]
- McLeod syndrome [Disease (Nov.)]
- McLeod syndrome [PASCAL descriptor]
- neuroacanthocytosis, mcleod type [MeSH Supplementary Concept]
- neuroacanthocytosis, mcleod type [MeSH concept]
Genes related to phenotype
- Kell blood group protein, mcleod syndrome-associated [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Acanthocytosis [HPO term]
- Adult onset [HPO term]
- Anxiety [HPO term]
- Areflexia of upper limbs [HPO term]
- Atrial fibrillation [HPO term]
- Cardiomyopathy [HPO term]
- Chorea [HPO term]
- Depression [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Generalized-onset seizure [HPO term]
- Hepatomegaly [HPO term]
- Impaired vibration sensation at ankles [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Motor axonal neuropathy [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Personality disorder [HPO term]
- Reduced haptoglobin level [HPO term]
- Rhabdomyolysis [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blood group deletion syndrome (disorder) [SNOMED CT concept]
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
- McLeod neuroacanthocytosis syndrome [ICD-11 More detail]
- McLeod syndrome [PASCAL descriptor]
- McLeod syndrome [Disease (Nov.)]
- McLeod syndrome [DO Concept]
- neuroacanthocytosis, mcleod type [MeSH Supplementary Concept]
- neuroacanthocytosis, mcleod type [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients