Details of Disease

General Information of Disease (ID: DIS5UHAA)

Disease Name Adult neuronal ceroid lipofuscinosis
Synonyms neuronal ceroid lipofuscinosis 4; CLN4 disease, adult autosomal dominant; Kuf's disease; Kufs disease; ANCL; adult neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis of adults; adult NCL
Definition
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
Disease Hierarchy
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISZSG9R: Cerebral lipidosis with dementia
DIS5UHAA: Adult neuronal ceroid lipofuscinosis
Disease Identifiers
MONDO ID
MONDO_0019260
MESH ID
D009472
UMLS CUI
C0022797
MedGen ID
7230
Orphanet ID
79262
SNOMED CT ID
62009002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 9 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN3 TT8XNZ7 Limited Biomarker [1]
CLCN6 TTCJRDO Limited Biomarker [2]
CTSD TTPT2QI Limited Biomarker [3]
PPT1 TTSQC14 Limited Biomarker [4]
CLN6 TTJCOQ7 Disputed Genetic Variation [5]
CLN3 TTORF9W Strong Biomarker [6]
TPP1 TTOVYPT Strong Biomarker [7]
CTSF TTJOKD1 Definitive Autosomal recessive [8]
CTSF TTJOKD1 Definitive Genetic Variation [9]
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⏷ Show the Full List of 9 DTT(s)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLN5 OTY265P6 Limited Biomarker [10]
CLN8 OT0D4CB5 Limited Biomarker [11]
MFSD8 OT455EIC Limited Biomarker [12]
SCARB2 OTN929M8 Limited Biomarker [13]
DNAJC5 OTCZDXAL Moderate Autosomal dominant [8]
ATP13A2 OTKWBUGK Strong Biomarker [14]
CTSF OTI56YTK Definitive Autosomal recessive [8]
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⏷ Show the Full List of 7 DOT(s)

References

1 ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation.J Biol Chem. 2005 Jan 14;280(2):1241-7. doi: 10.1074/jbc.M407030200. Epub 2004 Oct 25.
2 Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9. doi: 10.1073/pnas.0606137103. Epub 2006 Sep 1.
3 Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice.Mol Cell Neurosci. 2003 Feb;22(2):146-61. doi: 10.1016/s1044-7431(03)00035-6.
4 The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.Hum Mol Genet. 2015 Jan 1;24(1):185-96. doi: 10.1093/hmg/ddu428. Epub 2014 Sep 8.
5 Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.
6 Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.Biochim Biophys Acta. 2016 Jul;1862(7):1324-36. doi: 10.1016/j.bbadis.2016.04.011. Epub 2016 Apr 19.
7 Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.Mol Genet Metab. 2008 Jun;94(2):222-33. doi: 10.1016/j.ymgme.2008.01.014. Epub 2008 Mar 17.
8 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
9 Novel compound heterozygous mutations causing Kufs disease type B.Int J Neurosci. 2018 Jun;128(6):573-576. doi: 10.1080/00207454.2017.1403439. Epub 2017 Nov 22.
10 A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.Hum Mol Genet. 2004 Dec 1;13(23):2893-906. doi: 10.1093/hmg/ddh312. Epub 2004 Sep 30.
11 An early-onset congenic strain of the motor neuron degeneration (mnd) mouse.Mol Genet Metab. 1999 Apr;66(4):393-7. doi: 10.1006/mgme.1999.2817.
12 Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.Neurobiol Dis. 2014 May;65:12-24. doi: 10.1016/j.nbd.2014.01.003. Epub 2014 Jan 11.
13 Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.Biochem Biophys Res Commun. 2015 Feb 13;457(3):334-40. doi: 10.1016/j.bbrc.2014.12.111. Epub 2015 Jan 7.
14 Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. J Neurosci Res. 2012 Dec;90(12):2306-16. doi: 10.1002/jnr.23112. Epub 2012 Jul 30.