MCID: MCL055
MIFTS: 28

Mcleod Syndrome with or Without Chronic Granulomatous Disease

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

Aliases & Classifications for Mcleod Syndrome with or Without Chronic Granulomatous Disease

MalaCards integrated aliases for Mcleod Syndrome with or Without Chronic Granulomatous Disease:

Name: Mcleod Syndrome with or Without Chronic Granulomatous Disease 54 13
Mcleod Neuroacanthocytosis Syndrome 23 50 24 25 56 29
Mcleod Syndrome 72 50 25 71
X-Linked Mcleod Syndrome 50 56
Mls 56 71
Mcleod Syndrome with Chronic Granulomatous Disease 71
Mccleod Neuroacanthocytosis Syndrome 24
Neuroacanthocytosis Mcleod Type 71
Blood Group Deletion Syndrome 69
Mcleod Phenotype 71

Characteristics:

Orphanet epidemiological data:

56
mcleod neuroacanthocytosis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

54
Inheritance:
x-linked

Miscellaneous:
inter- and intrafamilial variability
mean age of onset between 30-40 years
disease duration ranged from 7-51 years
female carriers manifesting the mcleod phenotype have been reported


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:



External Ids:

OMIM 54 300842
Orphanet 56 ORPHA59306
UMLS via Orphanet 70 C0398568
ICD10 via Orphanet 34 G10
MeSH 42 D054546

Summaries for Mcleod Syndrome with or Without Chronic Granulomatous Disease

OMIM : 54
Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (143100). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007). The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD; 306400) results from a contiguous gene deletion (Francke et al., 1985). (300842)

MalaCards based summary : Mcleod Syndrome with or Without Chronic Granulomatous Disease, also known as mcleod neuroacanthocytosis syndrome, is related to o'sullivan-mcleod syndrome and inclusion-cell disease, and has symptoms including generalized seizures, muscle weakness and cardiomyopathy. An important gene associated with Mcleod Syndrome with or Without Chronic Granulomatous Disease is XK (X-Linked Kx Blood Group).

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

UniProtKB/Swiss-Prot : 71 McLeod syndrome: A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy.

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 Syndrome with or Without Chronic Granulomatous Disease

Diseases related to Mcleod Syndrome with or Without Chronic Granulomatous Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 o'sullivan-mcleod syndrome 12.0
2 inclusion-cell disease 11.7
3 mucolipidosis iii alpha/beta 11.7
4 linear skin defects with multiple congenital anomalies 1 11.6
5 mucolipidosis iv 11.5
6 mohr-tranebjaerg syndrome 11.1
7 choreoacanthocytosis 11.1
8 mucolipidoses 11.1
9 anuria 11.0
10 mucolipidosis iii gamma 11.0
11 amyotrophy, monomelic 10.8
12 renal tubular dysgenesis 10.8
13 infantile recurrent chronic multifocal osteomyolitis 10.7
14 doyne honeycomb degeneration of retina 10.7
15 sialidosis, type i 10.7
16 chronic infections, due to mbl deficiency 10.7
17 aromatase deficiency 10.7
18 primary pigmented nodular adrenocortical disease 10.7
19 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 10.7
20 spermatogenic failure, y-linked, 2 10.7
21 masp2 deficiency 10.7
22 prostatitis 10.5
23 prostate cancer 10.3
24 microphthalmia 10.1
25 chronic granulomatous disease 10.0
26 schizophrenia 10.0
27 melanoma 10.0
28 muscular dystrophy 9.8
29 cerebritis 9.8
30 myopathy 9.8
31 muscular atrophy 9.8
32 neuropathy 9.8
33 spinal muscular atrophy 9.7
34 adenoiditis 9.7
35 polymyositis 9.7
36 cardiomyopathy 9.7
37 hyperlucent lung 9.7
38 duchenne muscular dystrophy 9.7
39 retinitis 9.7
40 dystonia 9.7
41 dilated cardiomyopathy 9.7
42 axonal neuropathy 9.7
43 retinitis pigmentosa 9.7

Graphical network of the top 20 diseases related to Mcleod Syndrome with or Without Chronic Granulomatous Disease:



Diseases related to Mcleod Syndrome with or Without Chronic Granulomatous Disease

Symptoms & Phenotypes for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
choreatic movement disorder (in 30% of patients)
facial dyskinesia
seizures (in 20-40% of patients)
subcortical cognitive impairment (seen in 50% of patients with neuromuscular manifestations)

Cardiovascular- Heart:
atrial fibrillation
dilated cardiomyopathy (in 60% of patients)

Neurologic- Peripheral Nervous System:
absent deep tendon reflexes
sensory-motor axonal neuropathy

Abdomen- Spleen:
hepatosplenomegaly (in some patients)

Immunology:
granuloma formation (in some patients)
recurrent bacterial and fungal infections (in some patients)

Neurologic- Behavioral Psychiatric Manifestations:
depression
anxiety
obsessive-compulsive disorder
personality disorder
psychiatric abnormalities (in 20% of patients)

Hematology:
acanthocytosis
absence of kx red blood cell antigen
weak expression of kell antigen
hemolysis, compensated

Abdomen- Liver:
hepatosplenomegaly (in some patients)

Muscle Soft Tissue:
muscle weakness or atrophy (in 50% of patients)
myopathy, slowly progressive
rhabdomyolysis (rare)

Laboratory- Abnormalities:
elevated serum creatine levels


Clinical features from OMIM:

300842

Human phenotypes related to Mcleod Syndrome with or Without Chronic Granulomatous Disease:

32
id Description HPO Frequency HPO Source Accession
1 generalized seizures 32 HP:0002197
2 muscle weakness 32 HP:0001324
3 cardiomyopathy 32 HP:0001638
4 acanthocytosis 32 obligate (100%) HP:0001927
5 elevated serum creatine phosphokinase 32 HP:0003236

Drugs & Therapeutics for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Search Clinical Trials , NIH Clinical Center for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Genetic Tests for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Genetic tests related to Mcleod Syndrome with or Without Chronic Granulomatous Disease:

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

Anatomical Context for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Publications for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Variations for Mcleod Syndrome with or Without Chronic Granulomatous Disease

UniProtKB/Swiss-Prot genetic disease variations for Mcleod Syndrome with or Without Chronic Granulomatous Disease:

71
id Symbol AA change Variation ID SNP ID
1 XK p.Arg222Gly VAR_013817
2 XK p.Cys294Arg VAR_013818 rs28933690
3 XK p.Glu327Lys VAR_023581

ClinVar genetic disease variations for Mcleod Syndrome with or Without Chronic Granulomatous Disease:

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 Syndrome with or Without Chronic Granulomatous Disease

Search GEO for disease gene expression data for Mcleod Syndrome with or Without Chronic Granulomatous Disease.

Pathways for Mcleod Syndrome with or Without Chronic Granulomatous Disease

GO Terms for Mcleod Syndrome with or Without Chronic Granulomatous Disease

Sources for Mcleod Syndrome with or Without Chronic Granulomatous Disease

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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