Mcleod Syndrome (MCLDS)

Alias:
Mcleod Neuroacanthocytosis Syndrome
Mls
X-Linked Mcleod Syndrome
Mcleod Syndrome with or Without Chronic Granulomatous Disease
Neuroacanthocytosis, Mcleod Type
Mcleod Phenotype
Mcleod Syndrome with Chronic Granulomatous Disease
Mcleod Type Neuroacanthocytosis
Neuroacanthocytosis Mcleod Type
Blood Group Deletion Syndrome
Mclds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mcleod Syndrome, also known as mcleod neuroacanthocytosis syndrome, is related to choreoacanthocytosis and huntington disease. An important gene associated with Mcleod Syndrome is XK (X-Linked Kx Blood Group Antigen, Kell And VPS13A Binding Protein). Affiliated tissues include spinal cord and heart, and related phenotypes are rhabdomyolysis and elevated circulating creatine kinase concentration
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Adult
<1/1000000
18
101
76

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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