MCID: MCL014
MIFTS: 24

Mcleod Neuroacanthocytosis Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases categories

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

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Aliases & Descriptions for Mcleod Neuroacanthocytosis Syndrome:

Name: Mcleod Neuroacanthocytosis Syndrome 19 42 20 21 48 22
X-Linked Mcleod Syndrome 42 48
Mcleod Syndrome 42 21
 
Mls 42 48
Blood Group Deletion Syndrome 61
Microphthalmia, Syndromic 7 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
mcleod neuroacanthocytosis syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Orphanet48 59306

Summaries for Mcleod Neuroacanthocytosis Syndrome

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NIH Rare Diseases:42 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 x-linked mcleod syndrome, is related to prostatitis and prostate cancer. An important gene associated with Mcleod Neuroacanthocytosis Syndrome is XK (X-linked Kx blood group (McLeod syndrome)).

Genetics Home Reference:21 McLeod neuroacanthocytosis syndrome is a primarily neurological disorder that occurs almost exclusively in males. This disorder 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.

GeneReviews summary for mcleod

Related Diseases for Mcleod Neuroacanthocytosis Syndrome

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Graphical network of the top 20 diseases related to Mcleod Neuroacanthocytosis Syndrome:



Diseases related to mcleod neuroacanthocytosis syndrome

Symptoms for Mcleod Neuroacanthocytosis Syndrome

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Drugs & Therapeutics for Mcleod Neuroacanthocytosis Syndrome

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Drug clinical trials:

Search ClinicalTrials for Mcleod Neuroacanthocytosis Syndrome

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 Syndrome20 22 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

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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
1HCCSNM_001122608.2(HCCS): c.475G> A (p.Glu159Lys)single nucleotide variantPathogenicrs193929392GRCh37Chr X, 11136694: 11136694
2XKXK, IVS2DS, G-A, +1single nucleotide variantPathogenic
3XKXK, IVS2AS, G-A, -1single nucleotide variantPathogenic
4XKXK, 1-BP DELdeletionPathogenic
5XKXK, 1-BP DEL, 1095TdeletionPathogenic
6XKNM_021083.2(XK): c.880T> C (p.Cys294Arg)single nucleotide variantPathogenicrs28933690GRCh37Chr X, 37587260: 37587260
7XKXK, 13-BP DELdeletionPathogenic
8XKNM_021083.2(XK): c.941G> A (p.Trp314Ter)single nucleotide variantPathogenicrs104894953GRCh37Chr X, 37587321: 37587321
9XKNM_021083.2(XK): c.895C> T (p.Gln299Ter)single nucleotide variantPathogenicrs104894954GRCh37Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet