MCID: MCL014
MIFTS: 18

Mcleod Neuroacanthocytosis Syndrome malady

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

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

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Aliases & Descriptions for Mcleod Neuroacanthocytosis Syndrome:

Name: Mcleod Neuroacanthocytosis Syndrome 23 48 24 25
Mcleod Syndrome 48 25
Mccleod Neuroacanthocytosis Syndrome 24
 
Neuroacanthocytosis Mcleod Type 27
Blood Group Deletion Syndrome 68
X-Linked Mcleod Syndrome 48

Characteristics:

GeneReviews:

23
Penetrance: in males, the penetrance of neurologic and neuromuscular manifestations of mls is high after age 50 years, perhaps even complete. available data indicate that most males with the "mcleod blood group phenotype" will develop clinical symptoms of mcleod neuroacanthocytosis syndrome [bertelson et al 1988, hardie et al 1991, danek et al 2001a, jung et al 2001b]. in a few individuals, however, neurologic and neuromuscular symptoms may be absent or only minor even after long-term follow up [jung et al 2003, walker et al 2007a]...


Classifications:



Summaries for Mcleod Neuroacanthocytosis Syndrome

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NIH Rare Diseases:48 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:25 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 for NBK1354

Related Diseases for Mcleod Neuroacanthocytosis Syndrome

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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 disease11.1
2schizophrenia10.0

Symptoms & Phenotypes for Mcleod Neuroacanthocytosis Syndrome

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Drugs & Therapeutics for Mcleod Neuroacanthocytosis Syndrome

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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

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Genetic tests related to Mcleod Neuroacanthocytosis Syndrome:

id Genetic test Affiliating Genes
1 Mcleod Neuroacanthocytosis Syndrome27 24 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

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MalaCards organs/tissues related to Mcleod Neuroacanthocytosis Syndrome:

36
Skeletal muscle, Heart

Publications for Mcleod Neuroacanthocytosis Syndrome

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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

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Clinvar genetic disease variations for Mcleod Neuroacanthocytosis Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1XKXK, IVS2DS, G-A, +1SNVPathogenicChr na, -1: -1
2XKXK, IVS2AS, G-A, -1SNVPathogenicChr na, -1: -1
3XKXK, 1-BP DELdeletionPathogenicChr na, -1: -1
4XKXK, 1-BP DEL, 1095TdeletionPathogenicChr na, -1: -1
5XKNM_021083.2(XK): c.880T> C (p.Cys294Arg)SNVPathogenicrs28933690GRCh37Chr X, 37587260: 37587260
6XKXK, 13-BP DELdeletionPathogenicChr na, -1: -1
7XKNM_021083.2(XK): c.941G> A (p.Trp314Ter)SNVPathogenicrs104894953GRCh37Chr X, 37587321: 37587321
8XKNM_021083.2(XK): c.895C> T (p.Gln299Ter)SNVPathogenicrs104894954GRCh37Chr X, 37587275: 37587275

Expression for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

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Search GEO for disease gene expression data for Mcleod Neuroacanthocytosis Syndrome.

Pathways for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

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GO Terms for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

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Sources for Mcleod Neuroacanthocytosis Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet