MCID: MCL009
MIFTS: 30

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)). 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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63Wikipedia, 60UMLS
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Classifications:

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Anatomical: Blood diseases


Aliases & Descriptions:

mcleod syndrome 63
blood group deletion syndrome 60


Related Diseases for Mcleod Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Mcleod Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1neuroacanthocytosis30.8XK
2chorea-acanthocytosis30.6VPS13A, XK
3chronic granulomatous disease30.5DMD, IFNG, XK
4myopathy30.2XK, CKM, DMD, SGCA
5muscular dystrophy30.2XK, CKM, DMD, SGCA
6duchenne muscular dystrophy30.0DMD
7dilated cardiomyopathy30.0SGCA, DMD
8calpainopathy30.0DMD, SGCA
9neuropathy30.0SGCA, DMD
10mcleod neuroacanthocytosis syndrome10.5
11mcleod syndrome with or without chronic granulomatous disease10.4
12o'sullivan-mcleod syndrome10.2
13progressive muscular atrophy10.2
14cerebritis10.2
15muscular atrophy10.2
16image syndrome10.2
17levine-critchley syndrome10.2
18axonal neuropathy10.0
19hyperlucent lung10.0
20retinitis pigmentosa10.0
21adenoid cystic carcinoma10.0
22lung adenoid cystic carcinoma10.0
23adenoiditis10.0
24chromosomal disease10.0
25retinal disease10.0
26retinitis10.0
27spinal muscular atrophy10.0
28x-linked disease10.0
29renal tubular dysgenesis10.0
30myocarditis10.0DMD
31hyperprolactinemia10.0DRD2
32dmd-associated dilated cardiomyopathy10.0SGCA, DMD
33limb-girdle muscular dystrophy type 2f10.0SGCA, DMD
34limb-girdle muscular dystrophy, type 2b10.0SGCA, DMD
35becker muscular dystrophy10.0SGCA, DMD
36walker-warburg syndrome10.0DMD, SGCA
37myotonic dystrophy10.0DMD, CKM
38myositis10.0DMD, CKM
39limb-girdle muscular dystrophy10.0SGCA, DMD
40glycogen storage disease10.0DMD
41ischemia10.0DMD, DRD2
42noonan syndrome10.0XK, DMD, SGCA
43huntington's disease10.0DRD2, VPS13A
44aplastic anemia10.0IFNG, DRD2

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



Diseases related to mcleod syndrome

Clinical Features for Mcleod Syndrome

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Drugs & Therapeutics for Mcleod Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Mcleod Syndrome

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Anatomical Context for Mcleod Syndrome

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32MalaCards
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MalaCards organs/tissues related to Mcleod Syndrome:

32
Lung

Animal Models for Mcleod Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mcleod Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.7IFNG, DRD2, DMD, SGCA, CKM
2MP:00053697.4SGCA, DMD, DRD2, IFNG, CKM

Publications for Mcleod Syndrome

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50PubMed
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Articles related to Mcleod Syndrome:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK: Animal Models of McLeod Neuroacanthocytosis Syndrome. (24405768)
2014
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
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
Cardiac abnormalities in McLeod syndrome. (18045706)
2009
10
Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. (19040496)
2009
11
Cardiac and neurologic involvement in McLeod syndrome. (18657329)
2009
12
The McLeod syndrome without acanthocytes. (17870653)
2008
13
Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. (17133513)
2007
14
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
15
Phenotypic variability of a distinct deletion in McLeod syndrome. (17469188)
2007
16
McLeod phenotype without the McLeod syndrome. (17302777)
2007
17
McLeod syndrome: a neurohaematological disorder. (17683354)
2007
18
McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]. (17277857)
2006
19
Cerebral metabolic alterations in McLeod syndrome. (16914926)
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
Schizophrenia as a manifestation of X-linked Mcleod-Neuroacanthocytosis syndrome. (15163264)
2004
23
An unusual phenotype of McLeod syndrome with late onset axonal neuropathy. (14638894)
2003
24
The McLeod syndrome: an example of the value of integrating clinical and molecular studies. (11961231)
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
McLeod syndrome (a variant of neuroacanthocytosis). (11229129)
2000
31
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. (11104227)
2000
32
Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis. (10883007)
2000
33
Kell, Kx and the McLeod syndrome. (10895256)
1999
34
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. (10426139)
1999
35
A case of McLeod syndrome with chronic renal failure. (10343080)
1998
36
Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis. (9268240)
1997
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
McLeod Neuroacanthocytosis Syndrome (20301528)
1993
42
McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. (1512605)
1992
43
Abnormal membrane physical properties of red cells in McLeod syndrome. (2219261)
1990
44
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. (3334897)
1988
45
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. (4039107)
1985
46
Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. (6685553)
1983
47
An individual with McLeod syndrome and the Kell blood group antigen K(K1). (6879675)
1983
48
Elevated serum creatine phosphokinase in subjects with McLeod syndrome. (7197431)
1981
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

Genetic Variations for Mcleod Syndrome

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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

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Compounds for genes affiliated with Mcleod Syndrome

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Compounds related to Mcleod Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adenylate449.0DMD, DRD2, CKM
2creatinine448.4SGCA, DMD, VPS13A, CKM
3cysteine448.0XK, 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:0075179.5SGCA, DMD
2regulation of heart rateGO:0020279.5DMD, DRD2
3protein localizationGO:0081049.3DRD2, VPS13A
4locomotory behaviorGO:0076269.0DRD2, VPS13A
5positive regulation of neuron differentiationGO:0456669.0IFNG, DMD

Products for genes affiliated with Mcleod Syndrome

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Sources for Mcleod Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet