MCID: MCL014
MIFTS: 17

Mcleod Neuroacanthocytosis Syndrome malady

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

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

Aliases & Descriptions for Mcleod Neuroacanthocytosis Syndrome:

Name: Mcleod Neuroacanthocytosis Syndrome 23 50 24 25
Mcleod Syndrome 50 25
Mccleod Neuroacanthocytosis Syndrome 24
Neuroacanthocytosis Mcleod Type 29
Blood Group Deletion Syndrome 69
X-Linked Mcleod Syndrome 50

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

NIH Rare Diseases : 50 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).

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: NBK1354

Related Diseases for Mcleod Neuroacanthocytosis Syndrome

Diseases related to Mcleod Neuroacanthocytosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mcleod syndrome with or without chronic granulomatous disease 11.1
2 schizophrenia 10.0

Symptoms & Phenotypes for Mcleod Neuroacanthocytosis Syndrome

Drugs & Therapeutics for Mcleod Neuroacanthocytosis Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228

Search NIH Clinical Center for Mcleod Neuroacanthocytosis Syndrome

Genetic Tests for Mcleod Neuroacanthocytosis Syndrome

Genetic tests related to Mcleod Neuroacanthocytosis Syndrome:

id Genetic test Affiliating Genes
1 Mcleod Neuroacanthocytosis Syndrome 29 24 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

Publications for Mcleod Neuroacanthocytosis Syndrome

Articles related to Mcleod Neuroacanthocytosis Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Mcleod Neuroacanthocytosis Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 XK XK, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
2 XK XK, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
3 XK XK, 1-BP DEL deletion Pathogenic
4 XK XK, 1-BP DEL, 1095T deletion Pathogenic
5 XK NM_021083.3(XK): c.880T> C (p.Cys294Arg) single nucleotide variant Pathogenic rs28933690 GRCh37 Chromosome X, 37587260: 37587260
6 XK XK, 13-BP DEL deletion Pathogenic
7 XK NM_021083.3(XK): c.941G> A (p.Trp314Ter) single nucleotide variant Pathogenic rs104894953 GRCh37 Chromosome X, 37587321: 37587321
8 XK NM_021083.3(XK): c.895C> T (p.Gln299Ter) single nucleotide variant Pathogenic rs104894954 GRCh37 Chromosome X, 37587275: 37587275

Expression for Mcleod Neuroacanthocytosis Syndrome

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

Pathways for Mcleod Neuroacanthocytosis Syndrome

GO Terms for Mcleod Neuroacanthocytosis Syndrome

Sources for Mcleod Neuroacanthocytosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....