MCID: MCL014
MIFTS: 28

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 21 45 22 23 51 24
X-Linked Mcleod Syndrome 45 51
Mcleod Syndrome 45 23
Mccleod Neuroacanthocytosis Syndrome 22
 
Blood Group Deletion Syndrome 65
Microphthalmia, Syndromic 7 65
Mls 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
mcleod neuroacanthocytosis syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Orphanet51 59306

Summaries for Mcleod Neuroacanthocytosis Syndrome

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NIH Rare Diseases:45 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). Affiliated tissues include skeletal muscle and heart.

Genetics Home Reference:23 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 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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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 Syndrome22 24 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

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MalaCards organs/tissues related to Mcleod Neuroacanthocytosis Syndrome:

33
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 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1HCCSHCCS, 8.6-KB DELdeletionPathogenic
2HCCSNM_005333.4(HCCS): c.589C> T (p.Arg197Ter)single nucleotide variantPathogenicrs121917888GRCh37Chr X, 11139094: 11139094
3HCCSNM_005333.4(HCCS): c.649C> T (p.Arg217Cys)single nucleotide variantPathogenicrs121917889GRCh37Chr X, 11139772: 11139772
4HCCSNM_005333.4(HCCS): c.475G> A (p.Glu159Lys)single nucleotide variantPathogenicrs193929392GRCh37Chr X, 11136694: 11136694
5XKXK, IVS2DS, G-A, +1single nucleotide variantPathogenic
6XKXK, IVS2AS, G-A, -1single nucleotide variantPathogenic
7XKXK, 1-BP DELdeletionPathogenic
8XKXK, 1-BP DEL, 1095TdeletionPathogenic
9XKNM_021083.2(XK): c.880T> C (p.Cys294Arg)single nucleotide variantPathogenicrs28933690GRCh37Chr X, 37587260: 37587260
10XKXK, 13-BP DELdeletionPathogenic
11XKNM_021083.2(XK): c.941G> A (p.Trp314Ter)single nucleotide variantPathogenicrs104894953GRCh37Chr X, 37587321: 37587321
12XKNM_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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GO Terms for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

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Sources for Mcleod Neuroacanthocytosis Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet