MCID: MCL014
MIFTS: 27

Mcleod Neuroacanthocytosis Syndrome malady

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

Summaries for Mcleod Neuroacanthocytosis Syndrome

About this section


NIH Rare Diseases:43 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 prostatitis and prostate cancer. An important gene associated with Mcleod Neuroacanthocytosis Syndrome is XK (X-linked Kx blood group (McLeod syndrome)).

Genetics Home Reference:23 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

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

About this section

Mcleod Neuroacanthocytosis Syndrome, Aliases & Descriptions:

Name: Mcleod Neuroacanthocytosis Syndrome 21 43 22 23 49 24
Mcleod Syndrome 43 23 62
X-Linked Mcleod Syndrome 43 49
 
Mls 43 49
Blood Group Deletion Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

49
mcleod neuroacanthocytosis syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Orphanet49 59306

Related Diseases for Mcleod Neuroacanthocytosis Syndrome

About this section

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



Diseases related to mcleod neuroacanthocytosis syndrome

Symptoms for Mcleod Neuroacanthocytosis Syndrome

About this section

Drugs & Therapeutics for Mcleod Neuroacanthocytosis Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Mcleod Neuroacanthocytosis Syndrome

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 Syndrome22 24 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

About this section

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

Clinvar genetic disease variations for Mcleod Neuroacanthocytosis Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1XKXK, IVS2DS, G-A, +1single nucleotide variantPathogenic
2XKXK, IVS2AS, G-A, -1single nucleotide variantPathogenic
3XKXK, 1-BP DELdeletionPathogenic
4XKXK, 1-BP DEL, 1095TdeletionPathogenic
5XKNM_021083.2(XK): c.880T> C (p.Cys294Arg)single nucleotide variantPathogenicrs28933690GRCh37Chr X, 37587260: 37587260
6XKXK, 13-BP DELdeletionPathogenic
7XKNM_021083.2(XK): c.941G> A (p.Trp314Ter)single nucleotide variantPathogenicrs104894953GRCh37Chr X, 37587321: 37587321
8XKNM_021083.2(XK): c.895C> T (p.Gln299Ter)single nucleotide variantPathogenicrs104894954GRCh37Chr X, 37587275: 37587275

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

Compounds for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section

GO Terms for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section

Products for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mcleod Neuroacanthocytosis Syndrome

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet