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 47 24 25
Mcleod Syndrome 47 25
Mccleod Neuroacanthocytosis Syndrome 24
 
Neuroacanthocytosis Mcleod Type 26
Blood Group Deletion Syndrome 67
X-Linked Mcleod Syndrome 47

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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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.

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.

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 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 Syndrome26 24 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

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MalaCards organs/tissues related to Mcleod Neuroacanthocytosis Syndrome:

35
Skeletal muscle, Heart

Animal Models for Mcleod Neuroacanthocytosis Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet