MCID: MCL014
MIFTS: 25

Mcleod Neuroacanthocytosis Syndrome malady

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

Aliases & Classifications for Mcleod Neuroacanthocytosis Syndrome

About this section

Aliases & Descriptions for Mcleod Neuroacanthocytosis Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 59306
UMLS65 C0398568, C0796070

Summaries for Mcleod Neuroacanthocytosis Syndrome

About this section
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 mcleod syndrome with or without chronic granulomatous disease and o'sullivan-mcleod syndrome. An important gene associated with Mcleod Neuroacanthocytosis Syndrome is XK (X-Linked Kx Blood Group). Affiliated tissues include skeletal muscle, heart and ovary.

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 NBK1354

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

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

About this section

Genetic tests related to Mcleod Neuroacanthocytosis Syndrome:

id Genetic test Affiliating Genes
1 Mcleod Neuroacanthocytosis Syndrome22 XK

Anatomical Context for Mcleod Neuroacanthocytosis Syndrome

About this section

MalaCards organs/tissues related to Mcleod Neuroacanthocytosis Syndrome:

33
Skeletal muscle, Heart, Ovary

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
Endogenous stress response in Tako-Tsubo cardiomyopathy and acute myocardial infarction. (21391994)
2011
2
Polycystic ovaries in leprechaunism. (19688205)
2010
3
The cyclooxygenase-2 inhibitor rofecoxib (Vioxx) in the treatment of cervical dysplasia grade II-III A phase II trial. (16188370)
2006
4
Prevalence of the mutation C677 --&gt; T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil. (9714434)
1998

Variations for Mcleod Neuroacanthocytosis Syndrome

About this section

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

GO Terms for genes affiliated with Mcleod Neuroacanthocytosis Syndrome

About this section

Sources for Mcleod Neuroacanthocytosis Syndrome

About this section
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