Leukoencephalopathy, Brain Calcifications, And Cysts; Lcc

Table of contents:

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

Description

Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

Genes related to Leukoencephalopathy, Brain Calcifications, And Cysts; Lcc

SNORD118

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Clinical Features

Top most frequent phenotypes and symptoms related to Leukoencephalopathy, Brain Calcifications, And Cysts; Lcc

Intellectual disability
Seizures
Global developmental delay
Ataxia
Spasticity
Anemia
Dysarthria
Tremor
Gait disturbance
Dystonia

And another 17 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

Leukoencephalopathy, Brain Calcifications, And Cysts; Lcc Is also known as labrune syndrome.

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.

Leukoencephalopathy, Brain Calcifications, And Cysts; Lcc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leukodystrophy and Leukoencephalopathy Panel. By Blueprint Genetics (Finland). SCO1, AIMP1, SOX10, TREX1, GFM1, NDUFAF5, SAMHD1, NFU1, MRPL44, MLC1, GJC2, RNASEH2A, CLCN2, NUBPL, SUMF1, APOPT1, L2HGDH, ZFYVE26, TUBB4A, SERAC1 , (...) View the complete list with 54 more genes Panel complete gene list SCO1, AIMP1, SOX10, TREX1, GFM1, NDUFAF5, SAMHD1, NFU1, MRPL44, MLC1, GJC2, RNASEH2A, CLCN2, NUBPL, SUMF1, APOPT1, L2HGDH, ZFYVE26, TUBB4A, SERAC1, FA2H, RNASET2, RNF216, COL4A1, ADAR, COX15, COX6B1, RNASEH2C, CSF1R, FAM126A, MARS2, DARS2, RNASEH2B, TTC19, CYP27A1, CTC1, HEPACAM, DARS, FOXRED1, IBA57, LYRM7, D2HGDH, EARS2, MTFMT, POLR3A, PYCR2, POLR3B, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SNORD118, SDHAF1, FOLR1, ALDH3A2, GALC, GFAP, HIBCH, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, LMNB1, ARSA, ASPA, NOTCH3, AIFM1, PLP1, HTRA1, PSAP, RARS Specificity 2 % Genes 100 %
Comprehensive Epilepsy Panel. By Blueprint Genetics (Finland). SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...) View the complete list with 263 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1, SOX10, BTD, SPTAN1, CDKL5, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, TAF1, TBCD, TBCE, TCF4, MED12, TREX1, TSC1, TSC2, UBE2A, UBE3A, WWOX, YY1, GFM1, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, CACNB4, CERS1, PCDH19, ARHGEF9, GTPBP3, ZEB2, PIGT, CASK, CASR, GPHN, LRPPRC, NDUFAF5, PLCB1, SAMHD1, DNAJC5, SLC19A3, NFU1, EFHC1, RAB39B, SCARB2, MRPL44, PRICKLE1, MLC1, GJC2, ARX, SPATA5, PHF6, PRIMA1, DEPDC5, RNASEH2A, STX1B, KCNT1, MAGI2, VPS13A, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CLCN2, CLCN4, NUBPL, SUMF1, MBD5, APOPT1, L2HGDH, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB4A, CLN8, SLC39A8, NACC1, HACE1, SERAC1, FARS2, RMND1, FA2H, WDR26, NHLRC1, RNASET2, RNF216, BRAT1, KCTD7, COL4A1, ADAR, COX15, COX6B1, ABAT, SLC13A5, PIGO, UBA5, ETHE1, CPT2, GNE, RNASEH2C, CSF1R, NECAP1, FAM126A, CSTB, MARS2, CTSD, CTSF, DARS2, CUL4B, OFD1, RNASEH2B, TTC19, PIGV, CYP27A1, CTC1, FAR1, HEPACAM, UNC80, DARS, FOXRED1, DCX, DDC, IBA57, LYRM7, TBCK, D2HGDH, MFSD8, DHFR, NDUFAF6, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, EARS2, ROGDI, TBL1XR1, MTFMT, DNM1, DNM1L, HECW2, POLR3A, DPYD, DPYS, ATP13A2, CC2D1A, PNPO, PYCR2, POLR3B, PRRT2, SLC46A1, ALG13, AFG3L2, ECHS1, ECM1, AGA, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SNORD118, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF12, FH, FLNA, FOLR1, FOXG1, MTOR, ALDH3A2, GABRA1, ALDH5A1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GLB1, GLDC, GLRB, GNAO1, GNB1, GOSR2, AMACR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HTT, HIBCH, HNRNPU, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNQ2, KCNQ3, LGI1, ARG1, LMNB1, MECP2, MEF2C, ARSA, MOCS1, ASAH1, MTHFR, ASNS, ASPA, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NOTCH3, NRXN1, ATP1A3, OPHN1, AIFM1, ALDH7A1, ATRX, KIF1A, PGK1, SERPINI1, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PRODH, HTRA1, PSAP, PTS, PURA, QDPR, RARS, RELN Specificity 1 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics (Finland).

SCO1, AIMP1, SOX10, TREX1, GFM1, NDUFAF5, SAMHD1, NFU1, MRPL44, MLC1, GJC2, RNASEH2A, CLCN2, NUBPL, SUMF1, APOPT1, L2HGDH, ZFYVE26, TUBB4A, SERAC1 , (...)

View the complete list with 54 more genes

Specificity
2 %

Genes
100 %

Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes

Specificity
1 %

Genes
100 %

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Sources and references

You can check the following sources for additional information.

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