CLN10
MCID: CRD182
MIFTS: 45

Ceroid Lipofuscinosis, Neuronal, 10 (CLN10)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 10

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 10:

Name: Ceroid Lipofuscinosis, Neuronal, 10 57 74 13
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency 57 12 53 25 74 72
Cathepsin D Deficiency 12 53 25 59 37
Cln10 57 12 53 25 74
Neuronal Ceroid Lipofuscinosis 10 12 53 25 15
Congenital Neuronal Ceroid Lipofuscinosis 25 59 74
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient 12 74
Ceroid Lipofuscinosis Neuronal 10 29 6
Cln10 Disease 25 59
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient 57
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient 53
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis 25
Neuronal Ceroid Lipofuscinosis, Congenital 72
Lipofuscinosis, Ceroid, Neuronal, Type 10 40
Cln10 Disease, Late Infantile 53
Cln10 Disease, Congenital 53
Cln10 Disease, Juvenile 53
Cln10 Disease, Adult 53
Congenital Ncl 59

Characteristics:

Orphanet epidemiological data:

59
congenital neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
cln10 disease
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range birth to teenage years)
patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days


HPO:

32
ceroid lipofuscinosis, neuronal, 10:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110725
KEGG 37 H02279
MeSH 44 D009472
ICD10 33 E75.4
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 73 C0027877 C1864669 C1864670
UMLS 72 C1864669 C1864670

Summaries for Ceroid Lipofuscinosis, Neuronal, 10

NIH Rare Diseases : 53 Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and small head (microcephaly). They also have problems controlling their movements. The areas of the brain involved in thinking and emotions are also severely affected. Sadly, infants with CLN10 disease often do not survive longer than hours or weeks after birth. In some cases, people with CLN10 disease do not develop symptoms until later in infancy, childhood, or adulthood. Symptoms in these cases may be more gradual and include ataxia, loss of speech and vision, and problems with memory and thinking (cognitive impairment). The lifespan of people diagnosed after early infancy is also shortened, but varies based on when their symptoms began. CLN10 disease is caused by changes (mutations) in the CTSD gene and inheritance is autosomal recessive. If the disease-causing genetic change completely prevents the CLN10 protein (cathepsin D) from being made, the infant will be born with the severe type. If however, some working CLN2 protein is made, the person will develop either the late infantile, juvenile, or adult type. At this time, there are no effective treatment options for CLN10 disease. Therefore, therapy is aimed at easing symptoms and improving quality of life (palliative care). Please note: Batten disease originally referred specifically to the juvenile and most common form of NCL, now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of NCL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 10, also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency, is related to ceroid lipofuscinosis, neuronal, 3 and neuronal ceroid-lipofuscinoses, and has symptoms including seizures, ataxia and apnea. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 10 is CTSD (Cathepsin D), and among its related pathways/superpathways are Lysosome and Apoptosis. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are seizures and respiratory insufficiency

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that has material basis in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.

Genetics Home Reference : 25 CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth. In some individuals with CLN10 disease, the condition does not appear until later in life, between late infancy and adulthood. These individuals have a gradual loss of brain cells and often develop problems with balance and coordination (ataxia), loss of speech, a progressive loss in intellectual functioning (cognitive decline), and vision loss. Individuals with later-onset CLN10 disease have a shortened lifespan, depending on when their signs and symptoms first started. CLN10 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). All of these disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

OMIM : 57 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 (256730). (610127)

KEGG : 37
Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon after birth. Cathepsin D is a lysosomal protein encoded by the CTSD gene. Recently, novel mutations in CTSD with a juvenile onset of NCL has been reported.

UniProtKB/Swiss-Prot : 74 Ceroid lipofuscinosis, neuronal, 10: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 10

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 3 28.5 CTSD CLN6 CLN5 CLN3
2 neuronal ceroid-lipofuscinoses 28.1 CTSD CLN8 CLN6 CLN5 CLN3
3 neuronal ceroid lipofuscinosis 27.2 KCTD7 CTSD CLN8 CLN6 CLN5 CLN3
4 ceroid lipofuscinosis, neuronal, 1 27.0 KCTD7 CTSD CLN8 CLN6 CLN5 CLN3
5 ceroid lipofuscinosis, neuronal, 2 26.5 KCTD7 CTSD CLN8 CLN6 CLN5 CLN3
6 lymphopenia 10.2
7 lysosomal storage disease 10.2
8 microcephaly 10.2
9 hypertonia 10.2
10 ataxia and polyneuropathy, adult-onset 9.8
11 yemenite deaf-blind hypopigmentation syndrome 9.8
12 cerebral atrophy 9.7 CTSD CLN6
13 ceroid lipofuscinosis, neuronal, 9 9.3 CLN8 CLN6 CLN5
14 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.2 CLN8 CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 13 9.1 KCTD7 CLN8 CLN5
16 progressive myoclonus epilepsy 9.1 KCTD7 CLN6
17 ceroid lipofuscinosis, neuronal, 7 8.9 CLN8 CLN6 CLN5 CLN3
18 ceroid storage disease 8.9 CLN8 CLN6 CLN5 CLN3
19 lipid storage disease 8.9 CLN8 CLN6 CLN5 CLN3
20 ceroid lipofuscinosis, neuronal, 11 7.8 KCTD7 CTSD CLN8 CLN6 CLN5 CLN3

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 10:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 10

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 10

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 10:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensory axonal neuropathy 32 occasional (7.5%) HP:0003390
5 low-set ears 32 HP:0000369
6 ataxia 32 HP:0001251
7 spasticity 32 HP:0001257
8 wide nasal bridge 32 HP:0000431
9 intellectual disability, severe 32 HP:0010864
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 death in infancy 59 Very frequent (99-80%)
12 apnea 32 HP:0002104
13 intellectual disability, progressive 32 HP:0006887
14 rigidity 32 HP:0002063
15 status epilepticus 32 HP:0002133
16 visual loss 32 HP:0000572
17 respiratory failure 32 HP:0002878
18 mental deterioration 32 HP:0001268
19 rod-cone dystrophy 32 HP:0000510
20 cerebellar atrophy 32 HP:0001272
21 sloping forehead 32 HP:0000340
22 cerebral atrophy 32 HP:0002059
23 neuronal loss in central nervous system 32 HP:0002529
24 premature closure of fontanelles 32 HP:0005458
25 retinal atrophy 32 HP:0001105
26 increased neuronal autofluorescent lipopigment 32 HP:0002074

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Head And Neck Face:
sloping forehead

Head And Neck Nose:
broad nasal bridge

Muscle Soft Tissue:
muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)
intracellular granular osmiophilic deposits

Laboratory Abnormalities:
decrease or absence of cathepsin d (ctsd) protein immunostaining

Neurologic Central Nervous System:
seizures
ataxia
spasticity
rigidity
status epilepticus
more
Respiratory:
apnea
respiratory failure

Head And Neck Eyes:
retinal atrophy
retinitis pigmentosa
loss of vision, progressive

Skeletal Skull:
overriding sutures
obliterated fontanelles

Neurologic Peripheral Nervous System:
axonal sensory neuropathy (in some patients)

Clinical features from OMIM:

610127

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 10:


seizures, ataxia, apnea, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN3 CLN5 CLN6 CLN8 CTSD
2 vision/eye MP:0005391 9.02 CLN3 CLN5 CLN6 CLN8 CTSD

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 10

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 10

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 10

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 10:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 10 29 CTSD

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 10

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 10:

41
Brain, Cerebellum, Cortex, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 10

Articles related to Ceroid Lipofuscinosis, Neuronal, 10:

(show all 37)
# Title Authors PMID Year
1
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. 8 71
25298308 2014
2
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 8 71
16670177 2006
3
Cathepsin D deficiency is associated with a human neurodegenerative disorder. 8 71
16685649 2006
4
Neuronal ceroid lipofuscinoses. 71
19084560 2009
5
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 8
15965709 2005
6
Neuronal Ceroid-Lipofuscinoses 71
20301601 2001
7
Congenital ceroid-lipofuscinosis. 8
1558577 1992
8
Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study. 8
4094650 1985
9
Congenital amaurotic idiocy. 8
5688459 1968
10
A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy. 8
13149199 1954
11
A CONGENITAL FORM OF AMAUROTIC FAMILY IDIOCY. 8
21611390 1941
12
Inherited diseases caused by mutations in cathepsin protease genes. 6
27926992 2017
13
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. 38
31282275 2019
14
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 38
30771446 2019
15
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 38
31029456 2019
16
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. 38
29284168 2018
17
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. 38
29128403 2018
18
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 38
27881166 2016
19
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. 38
27072142 2016
20
Mice heterozygous for cathepsin D deficiency exhibit mania-related behavior and stress-induced depression. 38
26092248 2015
21
Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders. 38
26160911 2015
22
Cell biology of the NCL proteins: What they do and don't do. 38
25962910 2015
23
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 38
26026925 2015
24
The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs). 38
26093153 2015
25
Congenital CLN disease in two siblings. 38
26059544 2015
26
Characterization of neuronal ceroid-lipofuscinosis in 3 cats. 38
24026940 2014
27
Human pathology in NCL. 38
23200925 2013
28
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. 38
22502604 2012
29
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 38
22532218 2012
30
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 38
21235444 2011
31
[Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]. 38
20454899 2010
32
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 38
19807737 2010
33
Towards understanding the neuronal ceroid lipofuscinoses. 38
19195801 2009
34
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 38
19309691 2009
35
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). 38
18762956 2009
36
Analysis of NCL Proteins from an Evolutionary Standpoint. 38
19440452 2008
37
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. 38
23489355 2007

Variations for Ceroid Lipofuscinosis, Neuronal, 10

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 10:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTSD NM_001909.4: c.486-12G> A single nucleotide variant Pathogenic
2 CTSD NM_001909.5(CTSD): c.685T> A (p.Phe229Ile) single nucleotide variant Pathogenic rs121912789 11:1778573-1778573 11:1757343-1757343
3 CTSD NM_001909.5(CTSD): c.1149G> C (p.Trp383Cys) single nucleotide variant Pathogenic rs121912790 11:1774823-1774823 11:1753593-1753593
4 CTSD NM_001909.5(CTSD): c.764dup (p.Tyr255Ter) duplication Pathogenic rs786205105 11:1776199-1776199 11:1754969-1754969
5 CTSD NM_001909.5(CTSD): c.446G> T (p.Gly149Val) single nucleotide variant Pathogenic rs797045137 11:1780224-1780224 11:1758994-1758994
6 CTSD NM_001909.5(CTSD): c.1196G> A (p.Arg399His) single nucleotide variant Pathogenic rs797045138 11:1774776-1774776 11:1753546-1753546
7 CTSD NM_001909.5(CTSD): c.683_685TCT[1] (p.Phe229del) short repeat Likely pathogenic rs1057519591 11:1778570-1778572 11:1757340-1757342
8 CTSD NM_001909.5(CTSD): c.353-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141523461 11:1780329-1780329 11:1759099-1759099
9 CTSD NM_001909.5(CTSD): c.639C> G (p.Pro213=) single nucleotide variant Conflicting interpretations of pathogenicity rs146073498 11:1778619-1778619 11:1757389-1757389
10 CTSD NM_001909.5(CTSD): c.827+13T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369602025 11:1776123-1776123 11:1754893-1754893
11 CTSD NM_001909.5(CTSD): c.1072-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149019571 11:1774907-1774907 11:1753677-1753677
12 CTSD NM_001909.5(CTSD): c.1215C> A (p.Gly405=) single nucleotide variant Conflicting interpretations of pathogenicity rs138733377 11:1774757-1774757 11:1753527-1753527
13 CTSD NM_001909.5(CTSD): c.8C> T (p.Pro3Leu) single nucleotide variant Uncertain significance rs757712173 11:1785082-1785082 11:1763852-1763852
14 CTSD NM_001909.5(CTSD): c.470C> T (p.Ser157Leu) single nucleotide variant Uncertain significance rs587779409 11:1780200-1780200 11:1758970-1758970
15 CTSD NM_001909.5(CTSD): c.1183A> G (p.Thr395Ala) single nucleotide variant Uncertain significance 11:1774789-1774789 11:1753559-1753559
16 CTSD NM_001909.5(CTSD): c.173C> T (p.Ala58Val) single nucleotide variant Benign/Likely benign rs17571 11:1782594-1782594 11:1761364-1761364
17 CTSD NM_001909.5(CTSD): c.189C> T (p.Thr63=) single nucleotide variant Benign/Likely benign rs114051835 11:1782578-1782578 11:1761348-1761348
18 CTSD NM_001909.5(CTSD): c.231C> T (p.Ala77=) single nucleotide variant Benign/Likely benign rs2230067 11:1780867-1780867 11:1759637-1759637
19 CTSD NM_001909.5(CTSD): c.465T> C (p.Thr155=) single nucleotide variant Benign/Likely benign rs11555039 11:1780205-1780205 11:1758975-1758975
20 CTSD NM_001909.5(CTSD): c.844G> A (p.Gly282Arg) single nucleotide variant Benign/Likely benign rs147278302 11:1775352-1775352 11:1754122-1754122
21 CTSD NM_001909.5(CTSD): c.828-17G> A single nucleotide variant Benign rs78735768 11:1775385-1775385 11:1754155-1754155

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 10:

74
# Symbol AA change Variation ID SNP ID
1 CTSD p.Phe229Ile VAR_029362 rs121912789
2 CTSD p.Trp383Cys VAR_029363 rs121912790

Expression for Ceroid Lipofuscinosis, Neuronal, 10

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 10.

Pathways for Ceroid Lipofuscinosis, Neuronal, 10

Pathways related to Ceroid Lipofuscinosis, Neuronal, 10 according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Apoptosis hsa04210
3 Autophagy - animal hsa04140

Pathways related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 CTSD CLN5 CLN3

GO Terms for Ceroid Lipofuscinosis, Neuronal, 10

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 CLN8 CLN6 CLN5 CLN3
2 lysosome GO:0005764 8.8 CTSD CLN5 CLN3

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.46 CLN8 CLN6
2 neuromuscular process controlling balance GO:0050885 9.43 CLN8 CLN3
3 associative learning GO:0008306 9.4 CLN8 CLN3
4 negative regulation of proteolysis GO:0045861 9.37 CLN8 CLN3
5 lysosome organization GO:0007040 9.33 CLN8 CLN6 CLN3
6 ceramide metabolic process GO:0006672 9.32 CLN8 CLN3
7 cellular macromolecule catabolic process GO:0044265 9.26 CLN8 CLN6
8 lysosomal lumen acidification GO:0007042 9.13 CLN6 CLN5 CLN3
9 protein catabolic process GO:0030163 9.02 CTSD CLN8 CLN6 CLN5 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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