CLN10
MCID: CRD182
MIFTS: 50

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
Neuronal Ceroid Lipofuscinosis 10 12 52 25 29 6 15
Cathepsin D Deficiency 12 52 25 58 36
Cln10 56 12 52 25 73
Congenital Neuronal Ceroid Lipofuscinosis 25 58 73
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient 12 73
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, cerebellum and cortex, and related phenotypes are microcephaly 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 48)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 29.8 PPT1 CLN8 CLN6 CLN5 CLN3
2 ceroid storage disease 29.0 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
3 ceroid lipofuscinosis, neuronal, 2 28.3 TPP1 PPT1 DNAJC5 CTSD CLN8 CLN6
4 lysosomal storage disease 27.2 TPP1 SGSH PSAP PPT1 CTSD CLN6
5 ceroid lipofuscinosis, neuronal, 3 27.0 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
6 neuronal ceroid lipofuscinosis 24.7 TPP1 SGSH PSAP PPT1 MFSD8 KCTD7
7 epilepsy, idiopathic generalized 5 10.3 KCTD7 CLN8
8 lymphopenia 10.2
9 microcephaly 10.2
10 hypertonia 10.2
11 ceroid lipofuscinosis, neuronal, 6 10.1 MFSD8 CLN6 CLN5
12 combined oxidative phosphorylation deficiency 32 10.1 CLN8 ATP13A2
13 pedophilia 10.0 MFSD8 GRN
14 clonorchiasis 10.0 GRN CTSF
15 unverricht-lundborg syndrome 9.9 KCTD7 CLN6 CLN5 CLN3
16 mucopolysaccharidosis, type iiic 9.9 SGSH MFSD8
17 opisthorchiasis 9.9 GRN CTSF
18 mucopolysaccharidosis, type iiib 9.9 SGSH CLN6
19 ataxia and polyneuropathy, adult-onset 9.8
20 yemenite deaf-blind hypopigmentation syndrome 9.8
21 glycoproteinosis 9.8 PSAP CLN6
22 progressive myoclonus epilepsy 4 9.8 PSAP KCTD7
23 epilepsy 9.8 KCTD7 CLN8 CLN6 CLN5 CLN3
24 fascioliasis 9.8 GRN CTSF
25 dementia, lewy body 9.8 GRN CTSD ATP13A2
26 progressive myoclonus epilepsy 9.7 TPP1 KCTD7 CLN6 CLN5 CLN3
27 aspartylglucosaminuria 9.7 PSAP CLN6 CLN3
28 mucolipidosis ii alpha/beta 9.6 PSAP CTSD
29 sandhoff disease 9.5 PSAP CLN6
30 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.4 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
31 spinocerebellar ataxia, autosomal recessive 7 9.4 TPP1 MFSD8 KCTD7 CTSF CLN8 CLN6
32 dementia 9.4 MFSD8 GRN CTSD CLN5 ATP13A2
33 gaucher's disease 9.3 PSAP GRN CTSD CLN8
34 mucopolysaccharidosis, type iiia 9.3 TPP1 SGSH DNAJC5 CLN6 CLN3
35 progressive myoclonus epilepsy 3 9.3 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
36 adult neuronal ceroid lipofuscinosis 9.2 TPP1 PSAP PPT1 DNAJC5 CLN6
37 sphingolipidosis 9.1 SGSH PSAP CTSD ATP13A2
38 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
39 mucopolysaccharidosis iii 9.1 TPP1 SGSH PPT1 DNAJC5 CLN6 CLN3
40 ceroid lipofuscinosis, neuronal, 9 9.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
41 mucopolysaccharidosis-plus syndrome 8.9 TPP1 SGSH PPT1 DNAJC5 CTSD CLN6
42 dystonia 8.8 KCTD7 GRN DNAJC5 CTSD CLN8 CLN6
43 lipid storage disease 8.8 TPP1 PSAP PPT1 CLN8 CLN6 CLN5
44 visual epilepsy 8.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
45 ceroid lipofuscinosis, neuronal, 11 8.1 TPP1 MFSD8 KCTD7 GRN DNAJC5 CTSF
46 ceroid lipofuscinosis, neuronal, 1 7.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
47 ceroid lipofuscinosis, neuronal, 13 7.2 TPP1 PPT1 MFSD8 KCTD7 GRN DNAJC5
48 ceroid lipofuscinosis, neuronal, 7 6.7 TPP1 SGSH PPT1 MFSD8 KCTD7 GRN

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 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 seizure 31 hallmark (90%) HP:0001250
4 sensory axonal neuropathy 31 occasional (7.5%) HP:0003390
5 wide nasal bridge 31 HP:0000431
6 seizures 58 Very frequent (99-80%)
7 spasticity 31 HP:0001257
8 intellectual disability, severe 31 HP:0010864
9 abnormality of metabolism/homeostasis 31 HP:0001939
10 ataxia 31 HP:0001251
11 low-set ears 31 HP:0000369
12 intellectual disability, progressive 31 HP:0006887
13 death in infancy 58 Very frequent (99-80%)
14 apnea 31 HP:0002104
15 mental deterioration 31 HP:0001268
16 rod-cone dystrophy 31 HP:0000510
17 respiratory failure 31 HP:0002878
18 cerebellar atrophy 31 HP:0001272
19 sloping forehead 31 HP:0000340
20 rigidity 31 HP:0002063
21 status epilepticus 31 HP:0002133
22 cerebral atrophy 31 HP:0002059
23 visual loss 31 HP:0000572
24 neuronal loss in central nervous system 31 HP:0002529
25 premature closure of fontanelles 31 HP:0005458
26 retinal atrophy 31 HP:0001105
27 increased neuronal autofluorescent lipopigment 31 HP:0002074

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
rigidity
status epilepticus
more
Head And Neck Ears:
low-set ears

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

Head And Neck Head:
microcephaly

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:

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 Neuronal Ceroid Lipofuscinosis 10 29 CTSD

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 10

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

40
Brain, Cerebellum, Cortex, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 10

Articles related to Ceroid Lipofuscinosis, Neuronal, 10:

(show all 40)
# Title Authors PMID Year
1
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. 6 56
25298308 2014
2
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 56 6
16670177 2006
3
Cathepsin D deficiency is associated with a human neurodegenerative disorder. 6 56
16685649 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 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 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
Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. 61
32430003 2020
14
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. 61
31282275 2020
15
Experimental gene therapies for the NCLs. 61
32220628 2020
16
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research. 61
31783156 2019
17
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
18
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 61
30771446 2019
19
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. 61
29284168 2018
20
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. 61
29128403 2018
21
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
22
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. 61
27072142 2016
23
Mice heterozygous for cathepsin D deficiency exhibit mania-related behavior and stress-induced depression. 61
26092248 2015
24
The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs). 61
26093153 2015
25
Cell biology of the NCL proteins: What they do and don't do. 61
25962910 2015
26
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
27
Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders. 61
26160911 2015
28
Congenital CLN disease in two siblings. 61
26059544 2015
29
Characterization of neuronal ceroid-lipofuscinosis in 3 cats. 61
24026940 2014
30
Human pathology in NCL. 61
23200925 2013
31
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 61
22532218 2012
32
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. 61
22502604 2012
33
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
34
[Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]. 61
20454899 2010
35
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 61
19807737 2010
36
Towards understanding the neuronal ceroid lipofuscinoses. 61
19195801 2009
37
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 61
19309691 2009
38
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). 61
18762956 2009
39
Analysis of NCL Proteins from an Evolutionary Standpoint. 61
19440452 2008
40
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 top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTSD NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)SNV Pathogenic 17573 rs121912789 11:1778573-1778573 11:1757343-1757343
2 CTSD NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)SNV Pathogenic 17574 rs121912790 11:1774823-1774823 11:1753593-1753593
3 CTSD NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)duplication Pathogenic 17575 rs786205105 11:1776198-1776199 11:1754968-1754969
4 CTSD NM_001909.4:c.486-12G>ASNV Pathogenic 100733
5 CTSD NM_001909.5(CTSD):c.446G>T (p.Gly149Val)SNV Pathogenic 208848 rs797045137 11:1780224-1780224 11:1758994-1758994
6 CTSD NM_001909.5(CTSD):c.1196G>A (p.Arg399His)SNV Pathogenic 208849 rs797045138 11:1774776-1774776 11:1753546-1753546
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.90G>A (p.Thr30=)SNV Conflicting interpretations of pathogenicity 303841 rs368529527 11:1782677-1782677 11:1761447-1761447
9 CTSD NM_001909.5(CTSD):c.154G>A (p.Val52Ile)SNV Conflicting interpretations of pathogenicity 205335 rs143517230 11:1782613-1782613 11:1761383-1761383
10 CTSD NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)SNV Conflicting interpretations of pathogenicity 205337 rs764386803 11:1785076-1785076 11:1763846-1763846
11 CTSD NM_001909.5(CTSD):c.-24C>TSNV Conflicting interpretations of pathogenicity 137059 rs587780917 11:1785113-1785113 11:1763883-1763883
12 CTSD NM_001909.5(CTSD):c.639C>G (p.Pro213=)SNV Conflicting interpretations of pathogenicity 137060 rs146073498 11:1778619-1778619 11:1757389-1757389
13 CTSD NM_001909.5(CTSD):c.827+13T>CSNV Conflicting interpretations of pathogenicity 137062 rs369602025 11:1776123-1776123 11:1754893-1754893
14 CTSD NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)SNV Conflicting interpretations of pathogenicity 282729 rs147800688 11:1775095-1775095 11:1753865-1753865
15 CTSD NM_001909.5(CTSD):c.-37G>ASNV Conflicting interpretations of pathogenicity 303843 rs756112449 11:1785126-1785126 11:1763896-1763896
16 CTSD NM_001909.5(CTSD):c.912G>A (p.Pro304=)SNV Conflicting interpretations of pathogenicity 137040 rs140238987 11:1775284-1775284 11:1754054-1754054
17 CTSD NM_001909.5(CTSD):c.1071+7G>ASNV Conflicting interpretations of pathogenicity 137042 rs374010531 11:1775026-1775026 11:1753796-1753796
18 CTSD NM_001909.5(CTSD):c.1071+12A>GSNV Conflicting interpretations of pathogenicity 137043 rs113936232 11:1775021-1775021 11:1753791-1753791
19 CTSD NM_001909.5(CTSD):c.240C>T (p.Tyr80=)SNV Conflicting interpretations of pathogenicity 137050 rs147641822 11:1780858-1780858 11:1759628-1759628
20 CTSD NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)SNV Uncertain significance 100732 rs587779409 11:1780200-1780200 11:1758970-1758970
21 CTSD NM_001909.5(CTSD):c.283G>A (p.Val95Ile)SNV Uncertain significance 423805 rs141482597 11:1780815-1780815 11:1759585-1759585
22 CTSD NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)SNV Uncertain significance 579889 rs778724059 11:1774789-1774789 11:1753559-1753559
23 CTSD NM_001909.5(CTSD):c.*651C>TSNV Uncertain significance 877618 11:1774082-1774082 11:1752852-1752852
24 CTSD NM_001909.5(CTSD):c.*555C>ASNV Uncertain significance 877619 11:1774178-1774178 11:1752948-1752948
25 CTSD NM_001909.5(CTSD):c.*509C>TSNV Uncertain significance 877620 11:1774224-1774224 11:1752994-1752994
26 CTSD NM_001909.5(CTSD):c.*494C>TSNV Uncertain significance 877621 11:1774239-1774239 11:1753009-1753009
27 CTSD NM_001909.5(CTSD):c.*398G>ASNV Uncertain significance 878633 11:1774335-1774335 11:1753105-1753105
28 CTSD NM_001909.5(CTSD):c.*390G>ASNV Uncertain significance 878634 11:1774343-1774343 11:1753113-1753113
29 CTSD NM_001909.5(CTSD):c.*375A>GSNV Uncertain significance 878635 11:1774358-1774358 11:1753128-1753128
30 CTSD NM_001909.5(CTSD):c.*330G>TSNV Uncertain significance 878636 11:1774403-1774403 11:1753173-1753173
31 CTSD NM_001909.5(CTSD):c.*210C>GSNV Uncertain significance 879230 11:1774523-1774523 11:1753293-1753293
32 CTSD NM_001909.5(CTSD):c.*200C>GSNV Uncertain significance 879231 11:1774533-1774533 11:1753303-1753303
33 CTSD NM_001909.5(CTSD):c.*133G>ASNV Uncertain significance 879232 11:1774600-1774600 11:1753370-1753370
34 CTSD NM_001909.5(CTSD):c.*130G>ASNV Uncertain significance 879233 11:1774603-1774603 11:1753373-1753373
35 CTSD NM_001909.5(CTSD):c.*98G>ASNV Uncertain significance 879234 11:1774635-1774635 11:1753405-1753405
36 CTSD NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)SNV Uncertain significance 880423 11:1774750-1774750 11:1753520-1753520
37 CTSD NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)SNV Uncertain significance 877668 11:1775070-1775070 11:1753840-1753840
38 CTSD NM_001909.5(CTSD):c.999C>A (p.Ser333=)SNV Uncertain significance 877669 11:1775105-1775105 11:1753875-1753875
39 CTSD NM_001909.5(CTSD):c.315C>A (p.Val105=)SNV Uncertain significance 879287 11:1780783-1780783 11:1759553-1759553
40 CTSD NM_001909.5(CTSD):c.285C>T (p.Val95=)SNV Uncertain significance 879288 11:1780813-1780813 11:1759583-1759583
41 CTSD NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)SNV Uncertain significance 880467 11:1785041-1785041 11:1763811-1763811
42 CTSD NM_001909.5(CTSD):c.*694G>ASNV Uncertain significance 303820 rs751538234 11:1774039-1774039 11:1752809-1752809
43 CTSD NM_001909.5(CTSD):c.*58C>TSNV Uncertain significance 303832 rs886048063 11:1774675-1774675 11:1753445-1753445
44 CTSD NM_001909.5(CTSD):c.973-8C>ASNV Uncertain significance 303835 rs886048064 11:1775139-1775139 11:1753909-1753909
45 CTSD NM_001909.5(CTSD):c.660G>C (p.Gln220His)SNV Uncertain significance 303838 rs762797920 11:1778598-1778598 11:1757368-1757368
46 CTSD NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)SNV Uncertain significance 287566 rs202073338 11:1774810-1774810 11:1753580-1753580
47 CTSD NM_001909.5(CTSD):c.*654C>TSNV Uncertain significance 303821 rs148490566 11:1774079-1774079 11:1752849-1752849
48 CTSD NM_001909.5(CTSD):c.*574C>TSNV Uncertain significance 303823 rs886048061 11:1774159-1774159 11:1752929-1752929
49 CTSD NM_001909.5(CTSD):c.*358C>TSNV Uncertain significance 303825 rs542969755 11:1774375-1774375 11:1753145-1753145
50 CTSD NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)SNV Uncertain significance 205343 11:1774853-1774853 11:1753623-1753623

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 11.38 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 10.01 TPP1 SGSH PSAP PPT1 GRN CTSF
2 intracellular membrane-bounded organelle GO:0043231 9.88 PSAP PPT1 MFSD8 CLN6 CLCN6
3 cell GO:0005623 9.86 PPT1 KCTD7 GRN CLN6 CLN5 CLN3
4 membrane raft GO:0045121 9.72 TPP1 PPT1 CTSD CLN6 CLN3
5 lysosomal lumen GO:0043202 9.7 TPP1 SGSH PSAP PPT1 CTSF CTSD
6 late endosome GO:0005770 9.67 PSAP GRN CLN3 ATP13A2
7 synaptic vesicle GO:0008021 9.63 PPT1 DNAJC5 CLN3
8 melanosome GO:0042470 9.61 TPP1 DNAJC5 CTSD
9 lysosomal membrane GO:0005765 9.61 PSAP MFSD8 GRN DNAJC5 CTSD CLN5
10 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 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 PSAP GRN DNAJC5 CTSD
2 negative regulation of neuron apoptotic process GO:0043524 9.73 PPT1 GRN DNAJC5 CLN3
3 neuromuscular process controlling balance GO:0050885 9.63 TPP1 PSAP CLN3
4 protein catabolic process GO:0030163 9.63 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
5 autophagosome maturation GO:0097352 9.57 MFSD8 CLN3
6 associative learning GO:0008306 9.56 PPT1 CLN3
7 negative regulation of proteolysis GO:0045861 9.54 CLN8 CLN3
8 ceramide metabolic process GO:0006672 9.52 PSAP CLN8
9 glycosaminoglycan metabolic process GO:0030203 9.51 SGSH CLN6
10 lysosomal protein catabolic process GO:1905146 9.49 PSAP CLN3
11 positive regulation of pinocytosis GO:0048549 9.48 PPT1 CLN3
12 lysosomal transport GO:0007041 9.43 PSAP GRN ATP13A2
13 regulation of lysosomal protein catabolic process GO:1905165 9.4 MFSD8 ATP13A2
14 autophagosome-lysosome fusion GO:0061909 9.37 CLN3 ATP13A2
15 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
16 cellular macromolecule catabolic process GO:0044265 9.32 PPT1 CLN6
17 lysosome organization GO:0007040 9.17 TPP1 PPT1 MFSD8 GRN CLN6 CLN5

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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