MCID: MCL014
MIFTS: 19

Mcleod Neuroacanthocytosis Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

About this section

Aliases & Descriptions for Mcleod Neuroacanthocytosis Syndrome:

Name: Mcleod Neuroacanthocytosis Syndrome 22 46 23 24
Mcleod Syndrome 46 24
Mccleod Neuroacanthocytosis Syndrome 23
 
Neuroacanthocytosis Mcleod Type 25
Blood Group Deletion Syndrome 66
X-Linked Mcleod Syndrome 46

Classifications:



Summaries for Mcleod Neuroacanthocytosis Syndrome

About this section
NIH Rare Diseases:46 Mcleod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in males. only about 150 cases have been reported worldwide. this condition affects movement in many parts of the body. people with this condition also have abnormal star-shaped red blood cells (acanthocytosis). this condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. mcleod neuroacanthocytosis syndrome is inherited in an x-linked recessive fashion and is caused by mutations in the xk gene. last updated: 7/15/2011

MalaCards based summary: Mcleod Neuroacanthocytosis Syndrome, also known as mcleod syndrome, is related to mcleod syndrome with or without chronic granulomatous disease and schizophrenia. An important gene associated with Mcleod Neuroacanthocytosis Syndrome is XK (X-Linked Kx Blood Group). Affiliated tissues include skeletal muscle and heart.

Genetics Home Reference:24 McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

GeneReviews summary for NBK1354

Related Diseases for Mcleod Neuroacanthocytosis Syndrome

About this section

Diseases related to Mcleod Neuroacanthocytosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mcleod syndrome with or without chronic granulomatous disease11.2
2schizophrenia10.1

Symptoms for Mcleod Neuroacanthocytosis Syndrome

About this section

Drugs & Therapeutics for Mcleod Neuroacanthocytosis Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Heart and Skeletal Muscle Problems in NeuroacanthocytosisCompletedNCT00007228

Search NIH Clinical Center for Mcleod Neuroacanthocytosis Syndrome

Genetic Tests for Mcleod Neuroacanthocytosis Syndrome

About this section

Genetic tests related to Mcleod Neuroacanthocytosis Syndrome:

id Genetic test Affiliating Genes
1 Mcleod Neuroacanthocytosis Syndrome25 23 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

About this section

MalaCards organs/tissues related to Mcleod Neuroacanthocytosis Syndrome:

34
Skeletal muscle, Heart

Animal Models for Mcleod Neuroacanthocytosis Syndrome or affiliated genes

About this section

Publications for Mcleod Neuroacanthocytosis Syndrome

About this section

Articles related to Mcleod Neuroacanthocytosis Syndrome:

idTitleAuthorsYear
1
Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK: Animal Models of McLeod Neuroacanthocytosis Syndrome. (24405768)
2014
2
Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. (17133513)
2007
3
Schizophrenia as a manifestation of X-linked Mcleod-Neuroacanthocytosis syndrome. (15163264)
2004
4
McLeod Neuroacanthocytosis Syndrome (20301528)
1993

Variations for Mcleod Neuroacanthocytosis Syndrome

About this section

Expression for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section
Search GEO for disease gene expression data for Mcleod Neuroacanthocytosis Syndrome.

Pathways for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section

GO Terms for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section

Sources for Mcleod Neuroacanthocytosis Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet