Ceroid Lipofuscinosis, Neuronal, 10; Cln10

Description

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ceroid Lipofuscinosis, Neuronal, 10; Cln10

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears
  • Peripheral neuropathy
  • Wide nasal bridge
  • Tremor
  • Respiratory insufficiency
  • Respiratory distress

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

Ceroid Lipofuscinosis, Neuronal, 10; Cln10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency, ceroid lipofuscinosis, neuronal, cathepsin d-deficient.

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.


Mendelian

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Ceroid Lipofuscinosis, Neuronal, 10; Cln10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.

By Athena Diagnostics Inc (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, CTSD, CTSF, MFSD8, ATP13A2, GRN, PPT1
Specificity
8 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Neuronal Ceroid Lipofuscinosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1
Specificity
12 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Test for CTSD-Related Neuronal Ceroid-Lipofuscinosis.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CTSD
Specificity
100 %
Genes
100 %
NCL Panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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