CLN10
MCID: CRD182
MIFTS: 49

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 56 73 13
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency 56 12 52 25 73 71
Cathepsin D Deficiency 12 52 25 58 36
Cln10 56 12 52 25 73
Neuronal Ceroid Lipofuscinosis 10 12 52 25 15
Congenital Neuronal Ceroid Lipofuscinosis 25 58 73
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient 12 73
Ceroid Lipofuscinosis Neuronal 10 29 6
Cln10 Disease 25 58
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient 56
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient 52
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis 25
Neuronal Ceroid Lipofuscinosis, Congenital 71
Lipofuscinosis, Ceroid, Neuronal, Type 10 39
Cln10 Disease, Late Infantile 52
Cln10 Disease, Congenital 52
Cln10 Disease, Juvenile 52
Cln10 Disease, Adult 52
Congenital Ncl 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
ceroid lipofuscinosis, neuronal, 10:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110725
OMIM 56 610127
OMIM Phenotypic Series 56 PS256730
KEGG 36 H02279
MeSH 43 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C0027877 C1864669 C1864670
UMLS 71 C1864669 C1864670

Summaries for Ceroid Lipofuscinosis, Neuronal, 10

NIH Rare Diseases : 52 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 neuronal ceroid-lipofuscinoses and ceroid storage disease, 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, cortex and cerebellum, 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 : 56 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 : 36 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 : 73 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 42)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 29.8 PPT1 CLN8 CLN6 CLN5 CLN3
2 ceroid storage disease 28.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
3 ceroid lipofuscinosis, neuronal, 2 28.3 TPP1 PPT1 DNAJC5 CTSD CLN8 CLN6
4 ceroid lipofuscinosis, neuronal, 3 26.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
5 lysosomal storage disease 26.8 TPP1 SGSH PSAP PPT1 CTSD CLN8
6 ceroid lipofuscinosis, neuronal, 1 26.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
7 neuronal ceroid lipofuscinosis 24.6 TPP1 SGSH PSAP PPT1 MFSD8 KCTD7
8 cerebral atrophy 10.3 CLN6 CLN3
9 lymphopenia 10.2
10 microcephaly 10.2
11 hypertonia 10.2
12 unverricht-lundborg syndrome 10.1 CLN6 CLN5 CLN3
13 ceroid lipofuscinosis, neuronal, 6 10.1 MFSD8 CLN6 CLN5
14 pedophilia 10.0 MFSD8 GRN
15 visual cortex disease 9.9 MFSD8 CLN8 CLN6 CLN5
16 visual pathway disease 9.9 MFSD8 CLN8 CLN6 CLN5
17 opisthorchiasis 9.9 GRN CTSF
18 ataxia and polyneuropathy, adult-onset 9.8
19 yemenite deaf-blind hypopigmentation syndrome 9.8
20 epilepsy 9.8 KCTD7 CLN8 CLN6 CLN5 CLN3
21 inclusion-cell disease 9.8 PSAP CTSD
22 dementia, lewy body 9.8 GRN CTSD ATP13A2
23 glycoproteinosis 9.8 PSAP CLN6
24 fascioliasis 9.8 GRN CTSF
25 mucopolysaccharidosis, type vii 9.7 TPP1 SGSH
26 gm1 gangliosidosis 9.7 PSAP CLN6 CLN3
27 progressive myoclonus epilepsy 9.6 TPP1 KCTD7 CLN6 CLN5 CLN3
28 dementia 9.6 GRN CTSD CLN5 ATP13A2
29 sandhoff disease 9.5 PSAP CLN6
30 spinocerebellar ataxia, autosomal recessive 7 9.3 TPP1 MFSD8 KCTD7 CTSF CLN8 CLN6
31 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.3 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
32 gaucher's disease 9.3 PSAP GRN CTSD CLN8
33 sphingolipidosis 9.1 SGSH PSAP CTSD ATP13A2
34 adult neuronal ceroid lipofuscinosis 9.1 TPP1 PSAP PPT1 DNAJC5 CLN6
35 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
36 ceroid lipofuscinosis, neuronal, 9 8.6 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
37 lipid storage disease 8.6 TPP1 PSAP PPT1 CTSD CLN8 CLN6
38 mucopolysaccharidosis iii 8.5 TPP1 SGSH PPT1 KCTD7 DNAJC5 CLN8
39 ceroid lipofuscinosis, neuronal, 11 8.4 MFSD8 KCTD7 GRN DNAJC5 CTSF CLN8
40 visual epilepsy 8.1 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
41 ceroid lipofuscinosis, neuronal, 13 7.1 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
42 ceroid lipofuscinosis, neuronal, 7 7.1 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensory axonal neuropathy 31 occasional (7.5%) HP:0003390
5 low-set ears 31 HP:0000369
6 spasticity 31 HP:0001257
7 ataxia 31 HP:0001251
8 wide nasal bridge 31 HP:0000431
9 rod-cone dystrophy 31 HP:0000510
10 sloping forehead 31 HP:0000340
11 intellectual disability, severe 31 HP:0010864
12 abnormality of metabolism/homeostasis 31 HP:0001939
13 death in infancy 58 Very frequent (99-80%)
14 apnea 31 HP:0002104
15 intellectual disability, progressive 31 HP:0006887
16 rigidity 31 HP:0002063
17 status epilepticus 31 HP:0002133
18 visual loss 31 HP:0000572
19 respiratory failure 31 HP:0002878
20 mental deterioration 31 HP:0001268
21 cerebellar atrophy 31 HP:0001272
22 cerebral atrophy 31 HP:0002059
23 neuronal loss in central nervous system 31 HP:0002529
24 premature closure of fontanelles 31 HP:0005458
25 retinal atrophy 31 HP:0001105
26 increased neuronal autofluorescent lipopigment 31 HP:0002074

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Respiratory:
apnea
respiratory failure

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
spasticity
ataxia
rigidity
status epilepticus
more
Head And Neck Face:
sloping forehead

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 ATP13A2 CLCN6 CLN3 CLN6 CLN8 CTSD
2 nervous system MP:0003631 10.13 ATP13A2 CLCN6 CLN3 CLN5 CLN6 CLN8
3 cellular MP:0005384 10.06 ATP13A2 CLCN6 CLN3 CTSD GRN MFSD8
4 mortality/aging MP:0010768 10.06 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
5 liver/biliary system MP:0005370 9.85 CLN3 GRN MFSD8 PPT1 PSAP SGSH
6 pigmentation MP:0001186 9.55 ATP13A2 CLN8 GRN MFSD8 PPT1
7 renal/urinary system MP:0005367 9.43 CLN3 GRN MFSD8 PPT1 PSAP SGSH
8 vision/eye MP:0005391 9.36 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

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:

40
Brain, Cortex, Cerebellum, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 10

Articles related to Ceroid Lipofuscinosis, Neuronal, 10:

(show all 38)
# Title Authors PMID Year
1
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. 56 6
25298308 2014
2
Cathepsin D deficiency is associated with a human neurodegenerative disorder. 56 6
16685649 2006
3
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 56 6
16670177 2006
4
Neuronal ceroid lipofuscinoses. 6
19084560 2009
5
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
6
Neuronal Ceroid-Lipofuscinoses 6
20301601 2001
7
Congenital ceroid-lipofuscinosis. 56
1558577 1992
8
Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study. 56
4094650 1985
9
Congenital amaurotic idiocy. 56
5688459 1968
10
A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy. 56
13149199 1954
11
A CONGENITAL FORM OF AMAUROTIC FAMILY IDIOCY. 56
21611390 1941
12
Inherited diseases caused by mutations in cathepsin protease genes. 52
27926992 2017
13
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research. 61
31783156 2019
14
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
15
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. 61
31282275 2019
16
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 61
30771446 2019
17
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. 61
29284168 2018
18
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. 61
29128403 2018
19
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
20
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. 61
27072142 2016
21
Mice heterozygous for cathepsin D deficiency exhibit mania-related behavior and stress-induced depression. 61
26092248 2015
22
The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs). 61
26093153 2015
23
Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders. 61
26160911 2015
24
Cell biology of the NCL proteins: What they do and don't do. 61
25962910 2015
25
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
26
Congenital CLN disease in two siblings. 61
26059544 2015
27
Characterization of neuronal ceroid-lipofuscinosis in 3 cats. 61
24026940 2014
28
Human pathology in NCL. 61
23200925 2013
29
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. 61
22502604 2012
30
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 61
22532218 2012
31
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
32
[Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]. 61
20454899 2010
33
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 61
19807737 2010
34
Towards understanding the neuronal ceroid lipofuscinoses. 61
19195801 2009
35
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 61
19309691 2009
36
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). 61
18762956 2009
37
Analysis of NCL Proteins from an Evolutionary Standpoint. 61
19440452 2008
38
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. 61
23489355 2007

Variations for Ceroid Lipofuscinosis, Neuronal, 10

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

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTSD NM_001909.4:c.486-12G>ASNV Pathogenic 100733
2 CTSD NM_001909.5(CTSD):c.446G>T (p.Gly149Val)SNV Pathogenic 208848 rs797045137 11:1780224-1780224 11:1758994-1758994
3 CTSD NM_001909.5(CTSD):c.1196G>A (p.Arg399His)SNV Pathogenic 208849 rs797045138 11:1774776-1774776 11:1753546-1753546
4 CTSD NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)SNV Pathogenic 17573 rs121912789 11:1778573-1778573 11:1757343-1757343
5 CTSD NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)SNV Pathogenic 17574 rs121912790 11:1774823-1774823 11:1753593-1753593
6 CTSD NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)duplication Pathogenic 17575 rs786205105 11:1776198-1776199 11:1754968-1754969
7 CTSD NM_001909.5(CTSD):c.683_685TCT[1] (p.Phe229del)short repeat Likely pathogenic 375630 rs1057519591 11:1778570-1778572 11:1757340-1757342
8 CTSD NM_001909.5(CTSD):c.353-12C>TSNV Conflicting interpretations of pathogenicity 137055 rs141523461 11:1780329-1780329 11:1759099-1759099
9 CTSD NM_001909.5(CTSD):c.639C>G (p.Pro213=)SNV Conflicting interpretations of pathogenicity 137060 rs146073498 11:1778619-1778619 11:1757389-1757389
10 CTSD NM_001909.5(CTSD):c.827+13T>CSNV Conflicting interpretations of pathogenicity 137062 rs369602025 11:1776123-1776123 11:1754893-1754893
11 CTSD NM_001909.5(CTSD):c.1072-7G>ASNV Conflicting interpretations of pathogenicity 128870 rs149019571 11:1774907-1774907 11:1753677-1753677
12 CTSD NM_001909.5(CTSD):c.1215C>A (p.Gly405=)SNV Conflicting interpretations of pathogenicity 128872 rs138733377 11:1774757-1774757 11:1753527-1753527
13 CTSD NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)SNV Uncertain significance 100732 rs587779409 11:1780200-1780200 11:1758970-1758970
14 CTSD NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)SNV Uncertain significance 579889 rs778724059 11:1774789-1774789 11:1753559-1753559
15 CTSD NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)SNV Uncertain significance 205353 rs757712173 11:1785082-1785082 11:1763852-1763852
16 CTSD NM_001909.5(CTSD):c.173C>T (p.Ala58Val)SNV Benign/Likely benign 128873 rs17571 11:1782594-1782594 11:1761364-1761364
17 CTSD NM_001909.5(CTSD):c.189C>T (p.Thr63=)SNV Benign/Likely benign 128874 rs114051835 11:1782578-1782578 11:1761348-1761348
18 CTSD NM_001909.5(CTSD):c.231C>T (p.Ala77=)SNV Benign/Likely benign 128875 rs2230067 11:1780867-1780867 11:1759637-1759637
19 CTSD NM_001909.5(CTSD):c.465T>C (p.Thr155=)SNV Benign/Likely benign 128876 rs11555039 11:1780205-1780205 11:1758975-1758975
20 CTSD NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)SNV Benign/Likely benign 128877 rs147278302 11:1775352-1775352 11:1754122-1754122
21 CTSD NM_001909.5(CTSD):c.828-17G>ASNV Benign 258490 rs78735768 11:1775385-1775385 11:1754155-1754155

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

73
# 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:

36
# 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 11.37 TPP1 SGSH PSAP PPT1 MFSD8 CTSF

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 extracellular exosome GO:0070062 9.97 TPP1 SGSH PSAP PPT1 GRN CTSF
2 cell GO:0005623 9.86 PPT1 KCTD7 GRN CLN6 CLN5 CLN3
3 intracellular membrane-bounded organelle GO:0043231 9.85 PSAP PPT1 MFSD8 CLN6 CLCN6
4 lysosomal lumen GO:0043202 9.7 TPP1 SGSH PSAP PPT1 CTSF CTSD
5 late endosome GO:0005770 9.62 PSAP GRN CLN3 ATP13A2
6 synaptic vesicle GO:0008021 9.61 PPT1 DNAJC5 CLN3
7 lysosomal membrane GO:0005765 9.61 PSAP MFSD8 GRN DNAJC5 CTSD CLN5
8 melanosome GO:0042470 9.58 TPP1 DNAJC5 CTSD
9 lysosome GO:0005764 9.36 TPP1 SGSH PSAP PPT1 MFSD8 GRN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.81 PSAP GRN DNAJC5 CTSD
2 negative regulation of neuron apoptotic process GO:0043524 9.71 PPT1 GRN DNAJC5 CLN3
3 protein catabolic process GO:0030163 9.63 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
4 neuromuscular process controlling balance GO:0050885 9.62 TPP1 PSAP CLN8 CLN3
5 associative learning GO:0008306 9.54 PPT1 CLN8 CLN3
6 negative regulation of proteolysis GO:0045861 9.49 CLN8 CLN3
7 cellular protein catabolic process GO:0044257 9.48 PPT1 CLN8
8 lysosomal transport GO:0007041 9.46 PSAP GRN
9 glycosaminoglycan metabolic process GO:0030203 9.43 SGSH CLN6
10 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
11 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
12 lysosome organization GO:0007040 9.17 TPP1 PPT1 MFSD8 GRN CLN8 CLN6

Sources for Ceroid Lipofuscinosis, Neuronal, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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