MCID: MCL009
MIFTS: 28

Mcleod Syndrome malady

Blood category

Summaries for Mcleod Syndrome

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MalaCards: Mcleod Syndrome, also known as blood group deletion syndrome, is related to chorea-acanthocytosis and chronic granulomatous disease. An important gene associated with Mcleod Syndrome is XK (X-linked Kx blood group (McLeod syndrome)). The compounds adenylate and creatinine have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are cardiovascular system and muscle.

Aliases & Classifications for Mcleod Syndrome

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64Wikipedia, 61UMLS
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Classifications:

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


Aliases & Descriptions:

mcleod syndrome 64
blood group deletion syndrome 61


Related Diseases for Mcleod Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the mcleod syndrome with or without chronic granulomatous disease family:

mcleod syndrome

Diseases related to Mcleod Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1chorea-acanthocytosis30.7VPS13A, XK
2chronic granulomatous disease30.5XK, IFNG, DMD
3duchenne muscular dystrophy30.0DMD
4calpainopathy30.0DMD, SGCA
5n syndrome10.6
6mcleod neuroacanthocytosis syndrome10.5
7acanthocytosis10.4
8chorea10.4
9mcleod syndrome with or without chronic granulomatous disease10.4
10o'sullivan-mcleod syndrome10.3
11progressive muscular atrophy10.2
12muscular atrophy10.2
13levine-critchley syndrome10.2
14axonal neuropathy10.0
15hyperlucent lung10.0
16retinitis pigmentosa10.0
17adenoid cystic carcinoma10.0
18lung adenoid cystic carcinoma10.0
19spinal muscular atrophy10.0
20char syndrome10.0
21chromosome xp deletion10.0
22swyer syndrome10.0
23polymyositis10.0
24renal tubular dysgenesis10.0
25swyer-james syndrome10.0
26creatine phosphokinase, elevated serum10.0
27chromosome xp21 deletion syndrome10.0
28neuroacanthocytosis10.0XK
29myocarditis10.0DMD
30hyperprolactinemia10.0DRD2
31dmd-associated dilated cardiomyopathy10.0DMD, SGCA
32dilated cardiomyopathy10.0DMD, SGCA
33limb-girdle muscular dystrophy type 2f10.0SGCA, DMD
34limb-girdle muscular dystrophy, type 2b10.0SGCA, DMD
35becker muscular dystrophy10.0DMD, SGCA
36walker-warburg syndrome10.0SGCA, DMD
37myotonic dystrophy10.0CKM, DMD
38neuropathy10.0SGCA, DMD
39myositis10.0DMD, CKM
40limb-girdle muscular dystrophy10.0SGCA, DMD
41glycogen storage disease10.0DMD
42ischemia10.0DMD, DRD2
43noonan syndrome10.0SGCA, DMD, XK
44huntington's disease10.0DRD2, VPS13A
45aplastic anemia10.0DRD2, IFNG
46myopathy10.0DMD, SGCA, CKM, XK
47muscular dystrophy10.0CKM, DMD, SGCA, XK

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



Diseases related to mcleod syndrome

Clinical Features for Mcleod Syndrome

Drugs & Therapeutics for Mcleod Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mcleod Syndrome

Anatomical Context for Mcleod Syndrome

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33MalaCards
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MalaCards organs/tissues related to Mcleod Syndrome:

33
Lung

Animal Models for Mcleod Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Mcleod Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.7CKM, IFNG, DRD2, DMD, SGCA
2MP:00053697.4CKM, IFNG, DRD2, DMD, SGCA

Publications for Mcleod Syndrome

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51PubMed
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Articles related to Mcleod Syndrome:

(show top 50)    (show all 66)
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
Head drops are also observed in McLeod syndrome. (21469202)
2011
5
McLeod syndrome and acanthocytosis. (21808488)
2011
6
Feeding dystonia in McLeod syndrome. (21714011)
2011
7
Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity. (21655208)
2011
8
Evolution of striatal degeneration in McLeod syndrome. (19968700)
2010
9
Electroconvulsive therapy in neuroacanthocytosis or McLeod syndrome. (18997633)
2009
10
Cardiac abnormalities in McLeod syndrome. (18045706)
2009
11
Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. (19040496)
2009
12
Cardiac and neurologic involvement in McLeod syndrome. (18657329)
2009
13
Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. (17133513)
2007
14
Phenotypic variability of a distinct deletion in McLeod syndrome. (17469188)
2007
15
McLeod phenotype without the McLeod syndrome. (17302777)
2007
16
McLeod syndrome: a neurohaematological disorder. (17683354)
2007
17
McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]. (17277857)
2006
18
Cerebral metabolic alterations in McLeod syndrome. (16914926)
2006
19
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. (16344536)
2005
20
Schizophrenia as a manifestation of X-linked Mcleod-Neuroacanthocytosis syndrome. (15163264)
2004
21
An unusual phenotype of McLeod syndrome with late onset axonal neuropathy. (14638894)
2003
22
McLeod syndrome resulting from a novel XK mutation. (12899725)
2003
23
Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]. (12243006)
2002
24
McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. (11261514)
2001
25
A spontaneous novel XK gene mutation in a patient with McLeod syndrome. (11703337)
2001
26
The chorea of McLeod syndrome. (11746618)
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
McLeod syndrome (a variant of neuroacanthocytosis). (11229129)
2000
30
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. (11104227)
2000
31
Kell, Kx and the McLeod syndrome. (10895256)
1999
32
Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method. (10085435)
1999
33
A case of McLeod syndrome with unusually severe myopathy. (10465497)
1999
34
A case of McLeod syndrome with chronic renal failure. (10343080)
1998
35
Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis. (9268240)
1997
36
A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. (8619554)
1996
37
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. (7931427)
1994
38
Cerebral involvement in McLeod syndrome. (8290045)
1994
39
Successful interferon gamma therapy in a patient with X-linked chronic granulomatous disease, McLeod syndrome and hyper-IgE. Case report. (8084323)
1994
40
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. (8004674)
1994
41
A family of McLeod syndrome, masquerading as chorea-acanthocytosis. (7931422)
1994
42
McLeod Neuroacanthocytosis Syndrome (20301528)
1993
43
McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. (1512605)
1992
44
Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome). (2193159)
1990
45
Abnormal membrane physical properties of red cells in McLeod syndrome. (2219261)
1990
46
Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. (6685553)
1983
47
Mcleod syndrome (hemolysis, acanthocytosis, and increased serum creatine kinase): potential confusion with polymyositis. (6860383)
1983
48
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. (7197431)
1981
49
Anti-Km in a transfused man with McLeod syndrome. (7406997)
1980
50
Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups. (365264)
1978

Genetic Variations for Mcleod Syndrome

Expression for genes affiliated with Mcleod Syndrome

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1BioGPS, 15Gene 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

Compounds for genes affiliated with Mcleod Syndrome

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45Novoseek
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Compounds related to Mcleod Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adenylate459.0DMD, DRD2, CKM
2creatinine458.4SGCA, DMD, VPS13A, CKM
3cysteine458.0XK, CKM, IFNG, DMD

GO Terms for genes affiliated with Mcleod Syndrome

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16Gene Ontology
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Cellular components related to Mcleod Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.5SGCA, DMD
2dystrophin-associated glycoprotein complexGO:0160109.4SGCA, DMD
3lateral plasma membraneGO:0163289.1DMD, DRD2

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5DMD, SGCA
2regulation of heart rateGO:0020279.5DMD, DRD2
3protein localizationGO:0081049.3VPS13A, DRD2
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet