Mcleod Syndrome; Mclds

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ). 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 ) results from a contiguous gene deletion (Francke et al., 1985).

Genes related to Mcleod Syndrome; Mclds

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Clinical Features

Top most frequent phenotypes and symptoms related to Mcleod Syndrome; Mclds

Seizures
Muscle weakness
Cognitive impairment
Anemia
Peripheral neuropathy
Hepatomegaly
Dysarthria
Skeletal muscle atrophy
Cardiomyopathy
Myopathy

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Mcleod Syndrome; Mclds Is also known as mcleod phenotype, neuroacanthocytosis, mcleod type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mcleod Syndrome; Mclds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SLC2A1, SPTA1, SPTB, XK, ATP11C, ABCG5, ABCG8, COL4A1, PIEZO1, EPB41, EPB42, GYPC, ANK1, KCNN4 Specificity 7 % Genes 100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...) View the complete list with 16 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR Specificity 3 % Genes 100 %
XK sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). XK Specificity 100 % Genes 100 %
XK Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). XK Specificity 100 % Genes 100 %
Hemolytic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...) View the complete list with 12 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KLF1, KIF23, PFKM, PGK1, PKLR Specificity 4 % Genes 100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SLC2A1, SPTA1, SPTB, XK, ABCG5, ABCG8, PIEZO1, EPB41, EPB42, GYPC, ANK1 Specificity 9 % Genes 100 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
XK. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). XK Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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