Cln11 Disease

Description

Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Cln11 Disease

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy
  • Visual loss
  • EEG abnormality
  • Mental deterioration
  • Retinal dystrophy
  • Generalized myoclonic seizures

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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

Accelerate your rare disease diagnosis with us

Learn more

Cln11 Disease 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 %
Frontotemporal Dementia (FTD) Evaluation.

By Athena Diagnostics Inc (United States).

C9orf72, GRN, MAPT
Specificity
34 %
Genes
100 %
GRN DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GRN
Specificity
100 %
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 %
Frontotemporal Dementia (FTD) - PGRN Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

GRN
Specificity
100 %
Genes
100 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neuronal Ceroid-Lipofuscinoses Panel.

By Genetic Services Laboratory University of Chicago (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, MFSD8, GRN, PPT1
Specificity
10 %
Genes
100 %

We have 84 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7 HYPERALDOSTERONISM, FAMILIAL, TYPE I; HALD1 MAJEED SYNDROME IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more