MCID: MCL009
MIFTS: 33

Mcleod Syndrome malady

Blood diseases category

Summaries for Mcleod Syndrome

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MalaCards: Mcleod Syndrome, also known as blood group deletion syndrome, is related to neuroacanthocytosis and chorea-acanthocytosis. An important gene associated with Mcleod Syndrome is XK (X-linked Kx blood group (McLeod syndrome)), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Allograft rejection. The compounds prednisolone and tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are behavior/neurological and muscle.

Aliases & Classifications for Mcleod Syndrome

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66Wikipedia, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

mcleod syndrome 66
blood group deletion syndrome 63


Related Diseases for Mcleod Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Mcleod Syndrome:



Diseases related to mcleod syndrome

Symptoms for Mcleod Syndrome

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Drugs & Therapeutics for Mcleod Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mcleod Syndrome

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Anatomical Context for Mcleod Syndrome

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34MalaCards
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MalaCards organs/tissues related to Mcleod Syndrome:

34
Lung

Animal Models for Mcleod Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mcleod Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0DRD2, IFNG, VPS13A, DMD
2MP:00053697.7CKM, DRD2, IFNG, SGCA, DMD
3MP:00053977.7DMD, VPS13A, IFNG, DRD2
4MP:00053857.6DMD, SGCA, IFNG, DRD2, CKM
5MP:00053767.5DMD, SGCA, IFNG, DRD2, CKM

Publications for Mcleod Syndrome

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53PubMed
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Articles related to Mcleod Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Henry VIII, McLeod syndrome and Jacquetta's curse. (24350322)
2013
2
The first case report of McLeod syndrome in a Chinese patient. (23943810)
2013
3
The chorea of McLeod syndrome: progression to hypokinesia. (23192927)
2012
4
McLeod Syndrome: Report of an Indian family with phenotypic heterogeneity. (21808490)
2011
5
Head drops are also observed in McLeod syndrome. (21469202)
2011
6
McLeod syndrome and acanthocytosis. (21808488)
2011
7
Feeding dystonia in McLeod syndrome. (21714011)
2011
8
Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity. (21655208)
2011
9
Evolution of striatal degeneration in McLeod syndrome. (19968700)
2010
10
Electroconvulsive therapy in neuroacanthocytosis or McLeod syndrome. (18997633)
2009
11
Cardiac abnormalities in McLeod syndrome. (18045706)
2009
12
Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. (19040496)
2009
13
Cardiac and neurologic involvement in McLeod syndrome. (18657329)
2009
14
The McLeod syndrome without acanthocytes. (17870653)
2008
15
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
16
Phenotypic variability of a distinct deletion in McLeod syndrome. (17469188)
2007
17
McLeod phenotype without the McLeod syndrome. (17302777)
2007
18
McLeod syndrome: a neurohaematological disorder. (17683354)
2007
19
McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]. (17277857)
2006
20
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. (16344536)
2005
21
McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene. (16314760)
2005
22
An unusual phenotype of McLeod syndrome with late onset axonal neuropathy. (14638894)
2003
23
McLeod syndrome resulting from a novel XK mutation. (12899725)
2003
24
Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]. (12243006)
2002
25
McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. (11261514)
2001
26
A spontaneous novel XK gene mutation in a patient with McLeod syndrome. (11703337)
2001
27
Unusual muscle pathology in McLeod syndrome. (11032622)
2000
28
A novel mutation of the McLeod syndrome gene in a Japanese family. (10930599)
2000
29
Slowly progressive spinal muscular atrophy of the hands (O'Sullivan-McLeod syndrome): clinical and magnetic resonance imaging presentation. (11041339)
2000
30
Kell, Kx and the McLeod syndrome. (10895256)
1999
31
Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method. (10085435)
1999
32
A case of McLeod syndrome with unusually severe myopathy. (10465497)
1999
33
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. (10426139)
1999
34
A case of McLeod syndrome with chronic renal failure. (10343080)
1998
35
A case of McLeod syndrome]. (10203974)
1998
36
Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis. (9268240)
1997
37
A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. (8619554)
1996
38
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. (7931427)
1994
39
Cerebral involvement in McLeod syndrome. (8290045)
1994
40
Successful interferon gamma therapy in a patient with X-linked chronic granulomatous disease, McLeod syndrome and hyper-IgE. Case report. (8084323)
1994
41
McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. (1512605)
1992
42
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. (3334897)
1988
43
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. (4039107)
1985
44
Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. (6685553)
1983
45
Mcleod syndrome (hemolysis, acanthocytosis, and increased serum creatine kinase): potential confusion with polymyositis. (6860383)
1983
46
An individual with McLeod syndrome and the Kell blood group antigen K(K1). (6879675)
1983
47
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. (7197431)
1981
48
Anti-Km in a transfused man with McLeod syndrome. (7406997)
1980
49
Chronic granulomatous disease and McLeod syndrome in a black child. (7191556)
1980
50
Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups. (365264)
1978

Variations for Mcleod Syndrome

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Expression for genes affiliated with Mcleod Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mcleod Syndrome

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Pathways for genes affiliated with Mcleod Syndrome

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Mcleod Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.5SGCA, DMD
2
Show member pathways
8.7IFNG, SGCA, DMD

Compounds for genes affiliated with Mcleod Syndrome

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Mcleod Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1prednisolone46 30 1211.1IFNG, DMD
2tacrolimus46 52 1211.1IFNG, DMD
3adenylate468.9DMD, DRD2, CKM
4creatinine468.7CKM, VPS13A, SGCA, DMD
5arginine468.6DMD, IFNG, CKM
6cysteine468.4CKM, XK, IFNG, DMD
7nitric oxide46 25 1210.4CKM, IFNG, DMD

GO Terms for genes affiliated with Mcleod Syndrome

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17Gene Ontology
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Cellular components related to Mcleod Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.5SGCA, DMD
2membrane raftGO:0451219.5SGCA, DMD
3sarcolemmaGO:0423839.2SGCA, DMD
4lateral plasma membraneGO:0163289.2DRD2, DMD

Biological processes related to Mcleod Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5SGCA, DMD
2regulation of heart rateGO:0020279.4DRD2, DMD
3protein localizationGO:0081049.3DRD2, VPS13A
4locomotory behaviorGO:0076269.0DRD2, VPS13A
5positive regulation of neuron differentiationGO:0456669.0DMD, IFNG

Products for genes affiliated with Mcleod Syndrome

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Sources for Mcleod Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet