Ceroid Lipofuscinosis, Neuronal, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CLN1 MCID: CRD177 MIFTS: 60	Ceroid Lipofuscinosis, Neuronal, 1 (CLN1) Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Name: Ceroid Lipofuscinosis, Neuronal, 1 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Infantile Neuronal Ceroid Lipofuscinosis ²⁶ ⁶⁰ ⁷⁶ ³⁰ ⁵⁶ ⁷⁴

Cln1 ⁵⁸ ¹² ⁵⁴ ²⁶ ⁷⁶

Neuronal Ceroid Lipofuscinosis 1 ¹² ⁵⁴ ²⁶ ¹⁵

Santavuori-Haltia Disease ²⁶ ⁶⁰ ⁷⁶ ³⁸

Ceroid Lipofuscinosis Neuronal 1 ⁵⁴ ³⁰ ⁶

Hagberg-Santavuori Disease ⁶⁰ ⁷⁶

Santavuori Disease ⁶⁰ ⁷⁶

Cln1 Disease ²⁶ ⁶⁰

Incl ⁶⁰ ⁷⁶

Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits ⁷⁶

Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset ⁵⁸

Neuronal Ceroid Lipofuscinosis with Variable Age at Onset ⁷⁶

Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset ¹²

Ceroid Lipofuscinosis, Neuronal 1, Infantile ⁷⁴

Neuronal Ceroid Lipofuscinosis, Infantile ²⁶

Lipofuscinosis, Ceroid, Neuronal, Type 1 ⁴¹

Cln1 Variable Age at Onset ⁵⁴

Infantile Batten Disease ²⁶

Infantile Ncl ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

cln1 disease
Inheritance: Autosomal recessive; Age of onset: All ages;

infantile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden),1-9/1000000 (Sweden),1-9/1000000 (Finland),1-9/100000 (Finland),<1/1000000 (Norway); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset
variable severity, correlates with age at onset
infantile, late-infantile, juvenile, and adult onset have been reported
patients with adult onset present with psychiatric features
common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)

HPO:

³³

ceroid lipofuscinosis, neuronal, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Neuronal ceroid lipofuscinosis

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0110721

OMIM ⁵⁸ 256730

KEGG ³⁸ H02277

MeSH ⁴⁵ D009472

ICD10 ³⁴ E75.4

MESH via Orphanet ⁴⁶ C537948

ICD10 via Orphanet ³⁵ E75.4

UMLS via Orphanet ⁷⁵ C0268281 C1850451 C2931673

Orphanet ⁶⁰ ORPHA228329 ORPHA79263

MedGen ⁴³ C0268281 C1850451 C2931673

SNOMED-CT via HPO ⁷⁰ 102968003 127324008 128613002 more

UMLS ⁷⁴ C0268281 C1850451 C2931673

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Summaries for Ceroid Lipofuscinosis, Neuronal, 1

OMIM : ⁵⁸ 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 lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. (256730)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 1, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 9 and ceroid lipofuscinosis, neuronal, 13, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 1 is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Fatty acid metabolism and Fatty acid elongation. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are seizures and ataxia

Disease Ontology : ¹² A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has material basis in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Genetics Home Reference : ²⁶ CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.

UniProtKB/Swiss-Prot : ⁷⁶ Ceroid lipofuscinosis, neuronal, 1: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. 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. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).

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Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)

#	Related Disease	Score	Top Affiliating Genes
1	ceroid lipofuscinosis, neuronal, 9	31.1	CLN5 CLN6 CLN8 DNAJC5
2	ceroid lipofuscinosis, neuronal, 13	31.1	CLN5 CLN8 DNAJC5 KCTD7
3	ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	31.0	CLN5 CLN6 CLN8 MFSD8
4	ceroid lipofuscinosis, neuronal, 3	30.9	CLN3 CLN5 CLN6 CTSD PPT1 TPP1
5	ceroid lipofuscinosis, neuronal, 7	30.5	CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
6	lysosomal storage disease	30.3	CLN3 PPT1 TPP1
7	ceroid lipofuscinosis, neuronal, 10	30.2	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
8	adult neuronal ceroid lipofuscinosis	29.7	CLN6 DNAJC5 PPT1 TPP1
9	ceroid lipofuscinosis, neuronal, 11	29.2	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
10	neuronal ceroid lipofuscinosis	28.5	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
11	ceroid lipofuscinosis, neuronal, 2	28.4	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
12	neuronal ceroid-lipofuscinoses	28.2	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
13	ceroid lipofuscinosis, neuronal, 5	11.4
14	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	11.3
15	chromosome 15, trisomy mosaicism	11.2
16	epiphyseal dysplasia hearing loss dysmorphism	11.2
17	hemifacial microsomia with radial defects	11.0
18	epiphyseal dysplasia, multiple, 2	11.0
19	loeys-dietz syndrome 3	11.0
20	8p23.1 duplication syndrome	11.0
21	cortical blindness-intellectual disability-polydactyly syndrome	11.0
22	ring chromosome 6	11.0
23	ring chromosome 7	11.0
24	ring chromosome 12	11.0
25	spondylometaepiphyseal dysplasia, short limb-hand type	11.0
26	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant	11.0
27	ceroid lipofuscinosis, neuronal, 6	11.0
28	epilepsy, progressive myoclonic, 3, with or without intracellular inclusions	11.0
29	ceroid lipofuscinosis, neuronal, 8	11.0
30	rett syndrome	10.5
31	spinocerebellar ataxia, autosomal recessive 7	10.4
32	cerebrotendinous xanthomatosis	10.3
33	spinocerebellar ataxia 7	10.3
34	aspartylglucosaminuria	10.3
35	krabbe disease	10.3
36	mucolipidosis ii alpha/beta	10.3
37	neurodegeneration with brain iron accumulation 2a	10.3
38	ataxia and polyneuropathy, adult-onset	10.3
39	aging	10.3
40	macular dystrophy with central cone involvement	10.3
41	hematopoietic stem cell transplantation	10.3
42	choreatic disease	10.3
43	autosomal dominant cerebellar ataxia	10.3
44	epilepsy	10.3
45	neuroaxonal dystrophy	10.3
46	heparin-induced thrombocytopenia	10.3
47	precocious puberty	10.3
48	cln4 disease	10.0
49	keratoconus posticus circumscriptus	10.0
50	nevus comedonicus	10.0

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 1:

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Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 1

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

⁶⁰ ³³ (show all 35)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	seizures ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001250
2	ataxia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001251
3	spasticity ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001257
4	eeg abnormality ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002353
5	microcephaly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000252
6	optic atrophy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000648
7	blindness ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000618
8	abnormality of visual evoked potentials ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000649
9	stereotypy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000733
10	irritability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000737
11	myoclonus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001336
12	abnormal electroretinogram ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000512
13	motor deterioration ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002333
14	visual loss ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000572
15	generalized hypotonia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001290
16	cerebral atrophy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002059
17	macular dystrophy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007754
18	depressivity ³³			HP:0000716
19	intellectual disability ³³			HP:0001249
20	muscular hypotonia ³³			HP:0001252
21	sleep disturbance ³³			HP:0002360
22	hallucinations ³³			HP:0000738
23	global developmental delay ³³			HP:0001263
24	flexion contracture ³³			HP:0001371
25	abnormality of metabolism/homeostasis ³³			HP:0001939
26	progressive visual loss ³³			HP:0000529
27	mental deterioration ⁶⁰		Very frequent (99-80%)
28	macular degeneration ³³			HP:0000608
29	postnatal microcephaly ³³			HP:0005484
30	psychomotor deterioration ³³			HP:0002361
31	loss of speech ³³			HP:0002371
32	progressive microcephaly ³³			HP:0000253
33	increased neuronal autofluorescent lipopigment ³³			HP:0002074
34	decreased light- and dark-adapted electroretinogram amplitude ³³			HP:0000654
35	undetectable electroretinogram ³³			HP:0000550

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
ataxia
spasticity
myoclonus
loss of speech
more

Head And Neck Eyes:
optic atrophy
macular degeneration
retinal degeneration
vision loss, progressive
blindness by age 2
more

Head And Neck Head:
microcephaly, postnatal, progressive

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
sleep disturbances
depression
hyperexcitability

Skeletal Limbs:
flexion contractures

Laboratory Abnormalities:
granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells
decreased activity of ppt1
fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

Clinical features from OMIM:

256730

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:

seizures, ataxia, myoclonus, sleep disturbances, muscle spasticity

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.97	CLN3 CLN6 CLN8 CTSD DNAJC5 MFSD8
2	mortality/aging	MP:0010768	9.91	C1QBP CLN3 CLN6 CLN8 CTSD DNAJC5
3	hematopoietic system	MP:0005397	9.87	C1QBP CLN3 CLN6 CTSD FLI1 MFSD8
4	nervous system	MP:0003631	9.65	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
5	muscle	MP:0005369	9.55	DNAJC5 FLI1 MFSD8 PPT1 TPP1
6	vision/eye	MP:0005391	9.23	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Sources

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

Drugs for Ceroid Lipofuscinosis, Neuronal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

12035

Synonyms:

(2R)-2-acetylamino-3-Sulfanylpropanoate

(2R)-2-acetylamino-3-sulfanylpropanoic acid

(2R)-2-acetylamino-3-Sulfanylpropanoic acid

(2R)-2-acetylamino-3-Sulphanylpropanoate

(2R)-2-acetylamino-3-Sulphanylpropanoic acid

(R)-2-acetylamino-3-Mercaptopropanoate

(R)-2-acetylamino-3-mercaptopropanoic acid

(R)-2-acetylamino-3-Mercaptopropanoic acid

(R)-Mercaptate

(R)-Mercaptic acid

(R)-mercapturic acid

(R)-Mercapturic acid

2-acetylamino-3-mercapto-Propionate

2-acetylamino-3-mercapto-Propionic acid

Ac pharma brand OF acetylcysteine

ACC

Acebraus

Acemuc

Acetabs

Acetadote

Acetilcisteina

Acetylcystein al

Acetylcystein atid

Acetylcystein heumann

Acetylcystein trom

Acetylcystein, mentopin

Acetylcysteine

Acetylcysteine ac-pharma brand

Acetylcysteine alcon brand

Acetylcysteine aluid brand

Acetylcysteine atid brand

Acetylcysteine azupharma brand

Acetylcysteine betapharm brand

Acetylcysteine bioiberica brand

Acetylcysteine bouchara brand

Acetylcysteine centrafarm brand

Acetylcysteine disphar brand

Acetylcysteine farmasan brand

Acetylcysteine fresenius brand

Acetylcysteine génévrier brand

Acétylcystéine GNR

Acetylcysteine GNR-pharma brand

Acetylcysteine guerbet brand

Acetylcysteine hermes brand

Acetylcysteine heumann brand

Acetylcysteine hydrochloride

Acetylcysteine inpharzam brand

Acetylcysteine intra brand

Acetylcysteine klinge brand

Acetylcysteine krewel brand

Acetylcysteine lichtenstein brand

Acetylcysteine lindopharm brand

Acetylcysteine merck brand

Acetylcysteine oberlin brand

Acetylcysteine pfleger brand

Acetylcysteine pharbita brand

Acetylcysteine roberts brand

Acetylcysteine sodium

Acetylcysteine temmler brand

Acetylcysteine teva brand

Acetylcysteine thiemann brand

Acetylcysteine trommsdorff brand

Acetylcysteine upsa brand

Acetylcysteine whitehall brand

Acetylcysteine zambon brand

Acetylcysteine zinc

Acetylcysteine zyma brand

Acetylcysteine, (D)-isomer

Acetylcysteine, (DL)-isomer

Acetylcysteine, monoammonium salt

Acetylcysteine, monosodium salt

Acetylcysteinum

Acetylin

Acetyst

Acid, mercapturic

Ac-pharma brand OF acetylcysteine

Airbron

Alcon brand OF acetylcysteine

Allen and hanburys brand OF acetylcysteine

Aluid brand OF acetylcysteine

Alveolex

Atid brand OF acetylcysteine

Azubronchin

Azupharma brand OF acetylcysteine

Betapharm brand OF acetylcysteine

Bioiberica brand OF acetylcysteine

Bisolvon nac

Boehringer ingelheim brand OF acetylcysteine

Bouchara brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine sodium salt

Bristol-myers squibb brand OF acetylcysteine

Bristol-myers squibb brand OF acetylcysteine sodium salt

Bromuc

broncho Fips

broncho-Fips

BronchoFips

Broncholysin

Broncoclar

Centrafarm brand OF acetylcysteine

Codotussyl

Cystamucil

dampo Mucopect

Dey brand OF acetylcysteine sodium salt

Disphar brand OF acetylcysteine

Durabronchal

Eurespiran

Exomuc

Fabrol

Farmasan brand OF acetylcysteine

Fluimicil infantil

Fluimucetin

Fluimucil

Flumucetin

Fluprowit

Frekatuss

Fresenius brand OF acetylcysteine

Genac

Génévrier brand OF acetylcysteine

GNR Pharma brand OF acetylcysteine

GNR-Pharma brand OF acetylcysteine

Guerbet brand OF acetylcysteine

Hermes brand OF acetylcysteine

Heumann brand OF acetylcysteine

Hoestil

Hustengetränk, optipect

Hydrochloride, acetylcysteine

Ilube

Inpharzam brand OF acetylcysteine

Intra brand OF acetylcysteine

Jenacystein

Jenapharm

Klinge brand OF acetylcysteine

Krewel brand OF acetylcysteine

L-a-acetamido-b-Mercaptopropionate

L-a-acetamido-b-Mercaptopropionic acid

L-acetylcysteine

L-Acetylcysteine

L-alpha-acetamido-beta-Mercaptopropionate

L-alpha-acetamido-beta-Mercaptopropionic acid

Lantamed

Larylin nac

Lichtenstein brand OF acetylcysteine

Lindocetyl

Lindopharm brand OF acetylcysteine

Lysox

L-α-acetamido-β-mercaptopropionate

L-α-acetamido-β-mercaptopropionic acid

m Pectil

Mentopin acetylcystein

Mercaptate

Mercaptic acid

Mercapturic acid

Merck brand OF acetylcysteine

Monoammonium salt acetylcysteine

Monosodium salt acetylcysteine

m-Pectil

MPectil

Muciteran

muco Sanigen

Mucolysin

Mucomyst

Mucopect, dampo

Mucosil

Mucosol

Mucosolvin

N Acetyl L cysteine

N Acetylcysteine

NAC

NAC al

NAC zambon

NAC, bisolvon

N-Acetyl-3-mercaptoalanine

N-acetylcysteine

N-Acetylcysteine

N-Acety-L-cysteine

N-acetyl-L-(+)-cysteine

N-Acetyl-L-(+)-cysteine

N-acetyl-L-cysteine

Oberlin brand OF acetylcysteine

Optipect hustengetränk

Parvolex

Pfleger brand OF acetylcysteine

Pharbita brand OF acetylcysteine

Produpharm lappe brand OF acetylcysteine

Roberts brand OF acetylcysteine

Roche nicholas brand OF acetylcysteine

Sanigen, muco

Siccoral

Siran

Sodium 2-acetamido-3-mercaptopropionate

Sodium, acetylcysteine

Solmucol

Temmler brand OF acetylcysteine

Teva brand OF acetylcysteine

Thiemann brand OF acetylcysteine

Trommsdorff brand OF acetylcysteine

UPSA brand OF acetylcysteine

Whitehall brand OF acetylcysteine

Zambon brand OF acetylcysteine

Zambon, nac

Zinc, acetylcysteine

Zyma brand OF acetylcysteine

Cysteamine

Approved, Investigational

Phase 4

60-23-1

6058

Synonyms:

(2-Mercaptoethyl)amine

(Mercaptoethyl)ammonium toluene-p-sulphonate

.beta.-Mercaptoethylamine

139720-70-0

156-57-0 (hydrochloride)

16904-32-8 (di-hydrochloride)

1-Amino-2-mercaptoethylamine

2 Aminoethanethiol

27761-19-9 (tartrate (1:1))

2-amino-1-ethanethiol

2-amino-1-Ethanethiol

2-Amino-1-ethanethiol

2-aminoethanethiol

2-amino-ethanethiol

2-amino-ETHANETHIOL

2-Aminoethanethiol

2-AMINO-ETHANETHIOL

2-Aminoethyl mercaptan

2DFDA1F8-7010-4225-8280-AB1C4C43F546

2-Mercaptoethanamine

2-Mercaptoethylamine

2-Mercaptoethylamine, polymer-bound

30070_FLUKA

30070_SIGMA

3037-04-5

3037-04-5 (tosylate)

35S-Labeled cysteamine

42954-15-4 (hydrobromide)

60-23-1

60-23-1 (Parent)

641022_ALDRICH

93965-19-6 (maleate (1:1))

A0648

AC1L1LPL

AC1Q54NL

AKOS003793343

Aminoethyl mercaptan

b-Aminoethanethiol

b-Aminoethylthiol

Becaptan

beta Mercaptoethylamine

beta-aminoethanethiol

beta-Aminoethanethiol

beta-Aminoethylthiol

beta-MEA

beta-Mercaptoethylamine

Bitartrate, cysteamine

b-MEA

b-Mercaptoethylamine

bmse000388

C01678

C2H7NS

C-9500

CASH

CCRIS 3083

CHEBI:17141

CHEMBL602

CID6058

Cisteamina

Cisteamina [Italian]

Cystagon

Cystavision

Cysteamide

Cysteamin

Cysteamine

CYSTEAMINE

Cysteamine (USAN)

Cysteamine [USAN:BAN]

Cysteamine bitartate

cysteamine bitartrate

Cysteamine bitartrate

Cysteamine dihydrochloride

Cysteamine hydrobromide

Cysteamine hydrochloride

Cysteamine maleate (1:1)

Cysteamine tartrate

Cysteamine tartrate (1:1)

Cysteamine tosylate

Cysteamine, 35S labeled

Cysteamine, 35S-labeled

Cysteaminium

Cysteinamine

D03634

DB00847

Decarboxycysteine

Dihydrochloride, cysteamine

DivK1c_006750

EINECS 200-463-0

EINECS 221-235-7

Ethanethiolamine

HSDB 7353

Hydrobromide, cysteamine

Hydrochloride, cysteamine

KBio1_001694

KBio2_002235

KBio2_004803

KBio2_007371

KBioSS_002235

L 1573

L-1573

Lambraten

Lambratene

Lopac-M-6500

LS-65761

M9768_ALDRICH

M9768_SIGMA

MEA

MEA (mercaptan)

Mecramine

Mercamin

Mercamine

Mercaptamin

Mercaptamina

Mercaptamina [INN-Spanish]

Mercaptamine

Mercaptamine (INN)

Mercaptaminum

Mercaptaminum [INN-Latin]

Mercaptoethylamine

Merkamin

MolPort-001-662-635

NCGC00015691-01

NCGC00015691-04

NCGC00162236-01

nchembio.315-comp1

nchembio.316-comp1

NCI60_002000

NSC 647528

NSC647528

Riacon

SpecPlus_000654

Spectrum_001755

STK315355

Tartrate, cysteamine

Thioethanolamine

Tosylate, cysteamine

UNII-5UX2SD1KE2

WR 347

β-aminoethanethiol

β-aminoethylthiol

β-mea

β-MEA

β-mercaptoethylamine

Expectorants

Phase 4

Free Radical Scavengers

Phase 4

Antidotes

Phase 4

Protective Agents

Phase 4

Anti-Infective Agents

Phase 4,Phase 1

Respiratory System Agents

Phase 4

Antioxidants

Phase 4

N-monoacetylcystine

Phase 4

Antiviral Agents

Phase 4

Mitogens

Phase 1, Phase 2

Clindamycin

Approved, Vet_approved

Phase 1

18323-44-9

29029

Synonyms:

13441-63-9

16669-21-9

18323-44-9

21462-39-5 (mono-hydrochloride)

24620-78-8

24696-19-3

58207-19-5

7 chloro 7 Deoxylincomycin

7(S)-chloro-7-Deoxylincomycin

7(S)-Chloro-7-deoxylincomycin

7-CDL

7-chloro-7-Deoxylincomycin

7-Chloro-7-deoxylincomycin

7-Chlorolincomycin

7-Deoxy-7(S)-chlorolincomycin

AC1L1EGQ

AC1L1GLA

AC1L9JV8

AC1MHD7N

AC1MHE1M

AC1MHUOE

AC1MHX4G

AC1NWAKO

AC1O7ENS

AC1O7GED

AC1OFCIP

AC1OFCIV

AC1OFCJ1

AC1OFCJ7

AC1OIBYJ

AC1OIBYL

AC1OIBYN

AC1Q2V4O

Antirobe

BIDD:GT0418

BPBio1_000236

BRD-A23034328-003-03-4

BSPBio_000214

BSPBio_002049

C06914

C18H33ClN2O5S

CAS-21462-39-5

CHEBI:3745

CHEMBL187

Chlolincocin

Chlorlincocin

Chlorodeoxylincomycin

Chlorolincomycin

CID2786

CID29029

CID3000512

CID3001928

CID3032758

CID3034218

CID446598

CID5702026

CID6602476

CID6604361

CID7048642

CID7048644

CID7048646

CID7048648

CID7276014

CID7276016

CID7276018

CID9812677

CLDM

Cleocin

Cleocin (TN)

Cleocin Hcl

Cleocin HCl

Cleocin Pediatric

Cleocin Phosphate

Cleocin T

Cleocin T Gel

Cleocin T Lotion

Cleocin T Topical Solution

CLINDA & IL-12

ClindaDerm

Clinda-Derm

Clindagel

Clindamicina

Clindamicina [INN-Spanish]

clindamycin

Clindamycin

Clindamycin & Interleukin 12

Clindamycin & VRC3375

Clindamycin (USAN/INN)

Clindamycin [USAN:BAN:INN]

Clindamycin Hcl

Clindamycin hydrochloride

Clindamycin Hydrochloride

Clindamycin monohydrochloride

Clindamycin monohydrochloride, monohydrate

Clindamycin phosphate

Clindamycin Phosphate

Clindamycine

Clindamycine [French]

Clindamycine [INN-French]

Clindamycinum

Clindamycinum [INN-Latin]

Clindesse

Clindets

Clinimycin

CLY

D00277

Dalacin

Dalacin C

Dalacin C Flavored Granules

Dalacin C Phosphate

Dalacin T Topical Solution

Dalacine

DB01190

DivK1c_000464

EINECS 242-209-1

Evoclin

HMS2089A05

HMS2089N16

HSDB 3037

Hydrochloride, clindamycin

I06-0826

IDI1_000464

KBio1_000464

KBio2_000638

KBio2_003206

KBio2_005774

KBio3_001269

KBioGR_000844

KBioSS_000638

Klimicin

Klindan 300

LS-187128

LS-98131

Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-a-D-galacto-octopyranoside

Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-alpha-D-galacto-octopyranoside

Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-α-D-galacto-octopyranoside

MLS001183714

MolPort-002-323-206

MolPort-002-964-479

Monohydrate clindamycin monohydrochloride

Monohydrochloride, clindamycin

Monohydrochloride, monohydrate clindamycin

NCGC00016752-01

NCGC00178843-01

NCGC00179636-01

NINDS_000464

Prestwick0_000137

Prestwick1_000137

Prestwick2_000137

Prestwick3_000137

ResiDerm A

SMP2_000295

SMR000677917

Sobelin

SPBio_000670

SPBio_002153

Spectrum_000158

Spectrum2_000885

Spectrum3_000355

Spectrum4_000292

Spectrum5_001525

STK177246

STOCK1N-31150

U 21251

U-21,251

U-21251

UNII-3U02EL437C

Zindaclin

Benzoyl peroxide

Approved

Phase 1

94-36-0

7187

Synonyms:

Abcat 40

Abcure S-40-25

Acetoxyl

AcetOxyl 2.5 and 5

Acnegel

Akneroxid 5

Akneroxid L

Akneroxide L

Aksil 5

Asidopan

Aztec benzoyl peroxide-70-77

Aztec benzoyl peroxide-dry

Aztec bpo

Benbel c

Benox 50

Benoxyl

Benoxyl (5&10) lotion

Benzac

Benzac W

Benzagel

Benzagel 10

Benzaknen

Benzaknew

Benzamycin

Benzashave

Benzoic acid, peroxide

Benzol peroxide

Benzoperoxide

Benzoyl

Benzoyl benzenecarboperoxoate

Benzoyl peroide

Benzoyl peroxide

Benzoyl peroxide (luperox(R) a70S)

Benzoyl peroxide (luperox(R) a75)

Benzoyl peroxide (luperox(R) a75fp)

Benzoyl peroxide (luperox(R) a98)

Benzoyl peroxide(usan)

Benzoyl peroxide, blend in dibutyl phthalate

Benzoyl peroxide, blend in tricresyl phosphate

Benzoyl peroxide, usan

Benzoyl superoxide

Benzoylperoxid

Benzoylperoxyde

Bepio

BPO

Brevoxyl

Cadat bpo

Cadet

Cadet bpo-70W

Cadox

Cadox 40E

Cadox b

Cadox b 40E

Cadox b 50P

Cadox b 70W

Cadox b-CH 50

Cadox bpo-w40

Cadox BS

Cadox bta

Cadox BTW-50

Chaloxyd BP 50FT

Clear by design

Clearasil antibacterial acne lotion

Clearasil benzoyl peroxide lotion

Clearasil BP acne treatment

Debroxide

Dermoxyl

Desanden

Desquam e

Desquam X

Desquam-X

Dibenzoylperoxid

Dibenzoylperoxyde

Diphenylglyoxal peroxide

Diphenylglyoxal superoxide

Diphenylperoxyanhydride

DRY and clear

Duresthin 5

Eloxyl

Epi clear antiseptic lotion

Epi-clear

Florox

Fostex bpo

Garox

Incidol

Loroxide

Lucidol

Lucidol (peroxide)

Lucidol 50P

Lucidol 75fp

Lucidol b 50

Lucidol g 20

Lucidol GS

Lucidol KL 50

Lucidol RM

Lucidol-70

Lucidol-78

Lucilite

Lucipal

Luperco

luperco a

luperco Aa

luperco Ac

luperco Afr

luperco AFR-250

luperco Ast

Luperox a98

Luperox FL

Luzidol

Mixture OF dibenzoyl peroxide and calcium sulfate

Mixture OF dibenzoyl peroxide and calcium sulphate

Mytolac

Nayper b and bo

Nayper bo

Nericur

Norox BZP-250

Norox BZP-C-35

Novadeiox

Novadelox

NSC 675

Oxy 5

Oxy wash

Oxy-10 cover

Oxy-5

Oxy-L

Oxylite

Panoxyl

Periygel

perossido Di benzoile

Peroxide, benzoyl

Peroxide, dibenzoyl

Peróxido de benzoilo

Peroxyde de benzoyle

Peroxyderm

Peroxydex

Persadox

Persa-gel

Phisoac BP

Preoxydex

Presadox

Quinolor compound

Resdan akne

Sanoxit

Silica hydrogel

Stri-dex b.p

Stri-dex b.p.

Sulfoxyl

Superox

Superox 744

Superoxide, benzoyl

Superoxide, diphenylglyoxal

Thermaderm

Topex

Vanoxide

Xerac

Xerac BP

Xerac BP 10

Xerac BP 5

Carboplatin

Approved

Phase 1

41575-94-4

10339178 38904 498142

Synonyms:

(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum

/h1-3H2,(H,7,8)(H,9,10)

1,1-Cyclobutanedicarboxylate diammine platinum (II)

1,1-Cyclobutanedicarboxylate diammine platinum(II)

2*-1

2*1H2

41575-94-4

70903-55-8

AC-1457

AC1L8I6U

Ambap41575-94-4

azanide

Blastocarb

BSPBio_003145

C 2538

C2043

C2538_SIGMA

C6H10N2O4Pt

Carbopaltin

Carboplat

carboplatin

Carboplatin

Carboplatin (JAN/USP/INN)

Carboplatin (USAN)

Carboplatin [USAN:INN:BAN:JAN]

Carboplatine

Carboplatine [French]

Carboplatino

Carboplatino [Spanish]

Carboplatinum

Carboplatinum [Latin]

Carbosin

Carbotec

Cbdca

CBDCA

CCRIS 3404

CHEBI:31355

CHEMBL1351

CHEMBL288376

CID10339178

CID2567

CID38904

CID426756

CID498142

CID5352133

CID6398587

CID6603770

cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum

cis-(1,1-cyclobutanedicarboxylato)diammineplatinum(II)

cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)

cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)

cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)

cis-Diammine(1,1-cyclobutanedicarboxylato) platinum

cis-diammine(1,1-cyclobutanedicarboxylato)platinum

cis-Diammine(1,1-cyclobutanedicarboxylato)platinum

cis-diammine(1,1-cyclobutanedicarboxylato)platinum(II)

cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)

cis-Diammine(cyclobutanedicarboxylato)platinum II

Cyclobutane-1,1-dicarboxylate

cyclobutane-1,1-dicarboxylic acid

D01363

DB00958

Diammine(1,1-cyclobutanedicarboxylato)platinum (II)

Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum

diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum

Diammine-1,1-cyclobutane dicarboxylate platinum II

DivK1c_000892

EINECS 255-446-0

Ercar

EU-0100230

HMS1921J16

HMS2090M05

HMS2092B22

HMS502M14

HSDB 6957

I14-2390

IDI1_000892

InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6

IUPAC: Azane

JM 8

JM8

JM-8

KBio1_000892

KBio2_002009

KBio2_004577

KBio2_007145

KBio3_002645

KBioGR_000713

KBioSS_002009

Lopac0_000230

Lopac-C-2538

LS-117689

MolPort-003-665-501

MolPort-003-845-609

NCGC00015223-01

NCGC00093695-01

NCGC00094961-01

NCGC00094961-02

NCGC00094961-03

NCGC00162099-01

NCGC00162099-02

NCGC00167800-01

NCGC00178242-01

nchembio.573-comp10

nchembio773-comp2

nchembio873-comp3

Nealorin

Neocarbo

NINDS_000892

NSC 201345

NSC 241240

NSC201345

NSC241240

NSC-241240

Paraplatin

Paraplatin (TN)

Paraplatin, Carboplatin

Paraplatin-AQ

Platinum(+2) Cation

platinum(2+)

Platinum(II), (1, 1-cyclobutanedicar

Platinum, {diammine[1,1-cyclobut

Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)

Ribocarbo

S1215_Selleck

SPBio_000716

Spectrum_001529

SPECTRUM1502106

Spectrum2_000898

Spectrum3_001503

Spectrum4_000337

Spectrum5_001094

UNII-BG3F62OND5

Paclitaxel

Approved, Vet_approved

Phase 1

33069-62-4

36314

Synonyms:

(2AR-(2aalpha,4b,4abeta,6b,9a(a r*,betas*),11a,12a,12balpha))-b-(benzoylamino)-a-hydroxybenzenepropanoate 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2AR-(2aalpha,4b,4abeta,6b,9a(a r*,betas*),11a,12a,12balpha))-b-(benzoylamino)-a-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoate 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha R*,betaS*),11alpha,12alpha,12balpha))-beta-(Benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2AR-(2aalpha,4β,4abeta,6β,9α(α r*,betas*),11α,12α,12balpha))-β-(benzoylamino)-α-hydroxybenzenepropanoate 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

(2AR-(2aalpha,4β,4abeta,6β,9α(α r*,betas*),11α,12α,12balpha))-β-(benzoylamino)-α-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester

12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

157069-30-2

33069-62-4

5b,20-Epoxy-1,2-a,4,7b,10b,13a-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

5b,20-Epoxy-1,2-a,4,7b,10b,13a-hexahydroxytax-11-en-9-one 4,10-diacetic acid 2-benzoic acid 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetic acid 2-benzoic acid 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

5β,20-epoxy-1,2-α,4,7β,10β,13α-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

5β,20-epoxy-1,2-α,4,7β,10β,13α-hexahydroxytax-11-en-9-one 4,10-diacetic acid 2-benzoic acid 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine

7 Epi taxol

7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.

7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.

7-epi-Paclitaxel

7-Epipaclitaxel

7-Epi-paclitaxel

7-epi-Taxol

7-Epitaxol

7-Epi-taxol

AB00513812

ABI 007

abi-007

ABI007

ABI-007

Abraxane

Abraxane (TN)

Abraxane I.V. Suspension

Abraxis BioScience brand of albumin-bound paclitaxel

AC1L1IOG

AC1L1VJI

AC1L9AVF

AC-675

ACon1_002231

albumin-bound paclitaxel

Ambotz33069-62-4

ANX-513

Anzatax

Asotax

BIDD:PXR0046

Bio-0076

Bio1_000362

Bio1_000851

Bio1_001340

Bio2_000416

Bio2_000896

BMS 181339-01

BMS-181339

BMS-181339-01

BPBio1_000320

BRD-A23723433-001-01-2

BRD-A28746609-001-04-0

BRD-K62008436-001-03-1

Bris taxol

Bristaxol

BSPBio_000290

BSPBio_001152

BSPBio_002614

C07394

C466458

C47H51NO14

Capxol

CCRIS 8143

CHEBI:103439

CHEBI:45863

CHEMBL100910

CHEMBL418410

CHEMBL48

CID36314

CID441276

CID4666

CID6713921

CID6915727

cMAP_000068

CPD-8718

D00491

DB01229

DHP-107

DHP-208

DivK1c_000441

DRG-0190

DTS-301

Ebetaxel

EmPAC

Epitaxol

EU-0101201

Genaxol

Genetaxyl

Genexol

Genexol-PM

HMS1362J13

HMS1568O12

HMS1792J13

HMS1922K08

HMS1990J13

HMS2090D07

HMS2093K15

HMS501G03

HSDB 6839

I06-0014

IDI1_000441

IDI1_002171

Intaxel

KBio1_000441

KBio2_000492

KBio2_002016

KBio2_002509

KBio2_003060

KBio2_004584

KBio2_005077

KBio2_005628

KBio2_007152

KBio2_007645

KBio3_000903

KBio3_000904

KBio3_001834

KBio3_002987

KBioGR_000492

KBioGR_001893

KBioGR_002509

KBioSS_000492

KBioSS_002016

KBioSS_002517

LipoPac

LMPR0104390001

Lopac0_001201

LS-31070

MBT 0206

MEGxp0_001940

Micellar Paclitaxel

Mitotax

MLS000863266

MLS001077297

MLS002154218

MLS002172439

MLS002695976

MolPort-001-742-627

MolPort-003-665-783

MolPort-003-932-365

MPI-5018

nab-paclitaxel

Nanotaxel

NCGC00024995-02

NCGC00024995-03

NCGC00024995-04

NCGC00024995-05

NCGC00024995-06

NCGC00024995-07

NCGC00164367-01

NCGC00164367-02

NCGC00164367-03

nchembio.188-comp1

nchembio.2007.34-comp9

nchembio.215-comp9

nchembio853-comp6

NCI60_000601

Neuro_000060

NINDS_000441

NK 105

Nova-12005

NP-010981

NSC 125973

NSC125973

NSC-125973

NSC358882

OAS-PAC-100

OncoGel

Onxal

Onxol

Onxol, Taxol, Nov-Onxol, Paclitaxel

P1632

Paclical

Pacligel

paclitaxel

Paclitaxel

Paclitaxel (JAN/USP)

Paclitaxel (JAN/USP/INN)

Paclitaxel (Taxol)

Paclitaxel [USAN:INN:BAN]

Paclitaxel, (4 alpha)-isomer

Paxceed

Paxene

Paxoral

Plaxicel

Praxel

Prestwick0_000155

Prestwick1_000155

Prestwick2_000155

Prestwick3_000155

Probes2_000350

QW 8184

S1150_Selleck

S-8184 Paclitaxel Injectable Emulsion

SDCCGMLS-0066823.P001

SDP-013

SMP1_000228

SMR000394086

SMR000857385

SPBio_000943

SPBio_002229

Spectrum_001536

SPECTRUM1503908

Spectrum2_000872

Spectrum3_001057

Spectrum4_001197

Spectrum5_001491

ST50306996

T 7402

T1912_SIGMA

T7191_SIGMA

T7402_SIGMA

TA1

TaxAlbin

Taxol

TAXOL

TAXOL (TN)

Taxol a

Taxol A

Taxol Konzentrat

TAXOL, 10-EPI,

Taxol, bris

Taxol.RTM. (Registered Trademark)

TXL

UNII-P88XT4IS4D

UPCMLD-DP108:001

UPCMLD-DP108:002

Vascular Wrap

weekly paclitaxel

Xorane

Yewtaxan

Tyrosine

Approved, Investigational, Nutraceutical

Phase 1

60-18-4

6057

Synonyms:

(-)-a-amino-P-Hydroxyhydrocinnamate

(-)-a-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-amino-P-Hydroxyhydrocinnamate

(-)-alpha-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamate

(−)-α-amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoate

(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoic acid

(S)-(-)-Tyrosine

(S)-2-Amino-3-(4-hydroxyphenyl)propionic acid

(S)-2-amino-3-(P-Hydroxyphenyl)propionate

(S)-2-amino-3-(P-Hydroxyphenyl)propionic acid

(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(S)-3-(p-Hydroxyphenyl)alanine

(S)-3-(P-Hydroxyphenyl)alanine

(S)-a-amino-4-Hydroxybenzenepropanoate

(S)-a-amino-4-Hydroxy-benzenepropanoate

(S)-a-amino-4-Hydroxybenzenepropanoic acid

(S)-a-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-amino-4-Hydroxybenzenepropanoate

(S)-alpha-amino-4-Hydroxy-benzenepropanoate

(S)-alpha-amino-4-Hydroxybenzenepropanoic acid

(S)-alpha-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-Amino-4-hydroxybenzenepropanoic acid

(S)-Tyrosine

(S)-α-amino-4-hydroxybenzenepropanoate

(S)-α-amino-4-hydroxybenzenepropanoic acid

140-43-2

1991-85-1

25619-78-7

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoate

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionic acid

2csm

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

46209-14-7

4-hydroxy-L-phenylalanine

4-Hydroxy-L-phenylalanine

4ts1

55520-40-6

60-18-4

93829_FLUKA

93829_SIGMA

AB1002647

AC-11295

AC1L1LPI

AC1Q4U7L

AC1Q4U7M

AI3-09055

alpha-Amino-beta-(4-hydroxyphenyl)propionic acid

AR-1J3457

BB_NC-1194

Benzenepropanoate

Benzenepropanoic acid

beta-(p-Hydroxyphenyl)alanine

bmse000051

C00082

CHEBI:17895

CHEMBL925

CID6057

D00022

DB00135

DB03839

DD69927C-C6A8-4BC6-8E9A-0AB423B176E7

DTY

EINECS 200-460-4

FEMA No. 3736

Free-Form L-Tyrosine

HSDB 2003

H-Tyr-OH

L Tyrosine

L-(-)-Tyrosine

L-2-Amino-3-p-hydroxyphenylpropanoic acid

L-p-Tyrosine

L-P-Tyrosine

LS-2336

L-Tyrosin

L-tyrosine

L-Tyrosine (9CI)

L-Tyrosine (JAN)

L-Tyrosine hydrochloride

L-Tyrosine, homopolymer

L-Tyrosine, monomer

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide, <3 kd fraction

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, brominated with N-bromosuccinimide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, sulfonated using sulfur trioxide/DMF complex for 1.5-7 hours

MolPort-001-792-016

NCGC00159350-02

NCGC00159350-03

nchembio.105-comp1

nchembio.121-comp7

nchembio.186-comp84

nchembio.284-comp7

nchembio816-comp11

NSC 82624

Para tyrosine

Para-tyrosine

p-Tyrosine

P-Tyrosine

Rxosine

T0550

T3754_SIAL

T4321_SIAL

T4321_SIGMA

T8566_SIGMA

tirosina

Tirosina

Tirosina [Spanish]

tyr

Tyr

TYR NH3+ COOH

tyrosine

Tyrosine

TYROSINE

Tyrosine (USP/INN)

Tyrosine (VAN)

Tyrosine [USAN:INN]

Tyrosine Power

Tyrosine, L- (8CI)

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Tyrosinum [Latin]

UNII-42HK56048U

W373605_ALDRICH

Clindamycin palmitate

Phase 1

Dermatologic Agents

Phase 1

Clindamycin phosphate

Phase 1

Anti-Bacterial Agents

Phase 1

Antimitotic Agents

Phase 1

Albumin-Bound Paclitaxel

Phase 1

Antineoplastic Agents, Phytogenic

Phase 1

Protein Kinase Inhibitors

Phase 1

Erlotinib Hydrochloride

Phase 1

183319-69-9

176871

Immunoglobulin A

Phase 1

Antibodies

Phase 1

Immunoglobulins

Phase 1

Interventional clinical trials:

(show all 25)

#	Name	Status	NCT ID	Phase	Drugs
1	Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis	Completed	NCT00028262	Phase 4	Cystagon
2	A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease	Completed	NCT01907087	Phase 1, Phase 2
3	AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT01414985	Phase 1, Phase 2
4	Batten CLN6 Gene Therapy	Active, not recruiting	NCT02725580	Phase 1, Phase 2	scAVV9.CB.CLN6
5	A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease	Active, not recruiting	NCT02485899	Phase 1, Phase 2
6	A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease	Enrolling by invitation	NCT02678689	Phase 2
7	Safety and Efficacy of SNX-5422 in Human Epidermal Growth Factor Receptor 2 (HER2) Positive Cancers	Terminated	NCT01848756	Phase 1, Phase 2	SNX-5422
8	W0261-101: A Phase 1, Single Center, Randomized, Open-Label Study to Evaluate the Bioavailability of Clindamycin From Clindamycin 1%-Benzoyl Peroxide 3% Gel, Topical Gel (Clindamycin 1%- Benzoyl Peroxide 5%), and Once Daily Gel (Clindamycin 1%-Benzoyl Peroxide 5%) in Subjects With Acne	Completed	NCT01132443	Phase 1	Clindamycin 1%-Benzoyl Peroxide (BPO) 3% Gel,
9	Safety and Pharmacology of SNX-5422 Plus Carboplatin and Paclitaxel in Subjects With Solid Tumors	Completed	NCT01892046	Phase 1	SNX-5422
10	Safety and Pharmacology Study of SNX-5422 in Subjects With Resistant Lung Adenocarcinoma	Completed	NCT01851096	Phase 1	SNX-5422
11	Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Hematological Malignancies	Completed	NCT01635712	Phase 1	SNX-5422
12	Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Solid Tumor Malignancies	Completed	NCT01611623	Phase 1	SNX-5422
13	Effects of 2006-RD-05 on Salivary and Serum Immunoglobulin A (IgA) Levels in Healthy Subjects	Completed	NCT00906438	Phase 1
14	Safety And Pharmacology Of SNX-5422 Mesylate In Subjects With Refractory Hematological Malignancies	Completed	NCT00595686	Phase 1	SNX-5422
15	Safety And Pharmacology Study Of SNX-5422 Mesylate In Subjects With Refractory Solid Tumor Malignancies	Completed	NCT00506805	Phase 1	SNX-5422
16	Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)	Completed	NCT00337636	Phase 1	Medication to suppress the immune system
17	Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT00151216	Phase 1
18	Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)	Active, not recruiting	NCT01161576	Phase 1
19	Efficacy and Safety of SNX-5422 Added to an Established Dose of Ibrutinib in CLL	Terminated	NCT02973399	Phase 1	SNX-5422 plus ibrutinib
20	Safety and Activity of SNX-5422 Plus Ibrutinib in CLL	Withdrawn	NCT02914327	Phase 1	SNX-5422 plus ibrutinib
21	Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis	Withdrawn	NCT01238315	Phase 1
22	Genotype - Phenotype Correlations of LINCL	Completed	NCT00151268
23	Clinical and Neuropsychological Investigations in Batten Disease	Recruiting	NCT01873924
24	Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT01035424
25	Collection of Cerebrospinal Fluid in Healthy Children	Terminated	NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 1

Sources

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 1

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 1:

#	Genetic test	Affiliating Genes
1	Ceroid Lipofuscinosis Neuronal 1 ³⁰	PPT1
2	Infantile Neuronal Ceroid Lipofuscinosis ³⁰

Sources

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 1:

⁴²

Brain, Bone, Lung, Eye, Testes, Bone Marrow, Retina

Sources

Publications for Ceroid Lipofuscinosis, Neuronal, 1

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 242)

#	Title	Authors	Year
1	Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. ( 31105743 )	Ren XT...Fang F	2019
2	A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis. ( 31086824 )	Thottath J...Scaria V	2019
3	Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. ( 30946007 )	Koster KP...Yoshii A	2019
4	Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. ( 30528883 )	Chin JJ...Malicdan MCV	2019
5	Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. ( 31059981 )	Chen ZR...Yi YH	2018
6	Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). ( 30323181 )	Sindelar M...Gross SS	2018
7	A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. ( 30285654 )	Sun G...Yang Z	2018
8	Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. ( 30119717 )	Nickel M...Schulz A	2018
9	Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. ( 30089511 )	Lange J...Cooper JD	2018
10	Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )	Nemtsova Y...Sleat DE	2018
11	Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders. ( 28623936 )	Kim K...Pahan K	2017
12	Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )	Wiseman JA...Lobel P	2017
13	Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )	Segal-Salto M...Reiner O	2017
14	Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )	Ghosh A...Pahan K	2017
15	MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. ( 27765741 )	Baker EH...Mukherjee AB	2017
16	CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )	Kohlsch?tter A...Schulz A	2016
17	Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation. ( 27343025 )	Saini AG...Singhi P	2016
18	First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ( 27165443 )	Sato R...Haginoya K	2016
19	Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. ( 27072142 )	Doccini S...Simonati A	2016
20	A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. ( 26846731 )	Niida Y...Ozaki M	2016
21	Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). ( 26822727 )	Dyke JP...Ballon D	2016
22	Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. ( 26443629 )	Katata Y...Kure S	2016
23	A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. ( 26032578 )	Yu F...Wang K	2015
24	Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. ( 25982063 )	Lu JY...Hofmann SL	2015
25	Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. ( 25439737 )	Craiu D...Iliescu C	2015
26	The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. ( 25205113 )	Miller JN...Pearce DA	2015
27	Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. ( 25333361 )	Pati?o LC...Laissue P	2014
28	Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. ( 25270050 )	Mandel H...Spiegel R	2014
29	An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. ( 25253854 )	Macauley SL...Sands MS	2014
30	Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? ( 25233404 )	Shyng C...Sands MS	2014
31	Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. ( 24997880 )	Levin SW...Mukherjee AB	2014
32	Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24954537 )	Whiting RE...Katz ML	2014
33	Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). ( 24938720 )	Katz ML...O'Neill CA	2014
34	Redefining the "hyperphotoconvulsive" response of late-infantile neuronal ceroid lipofuscinosis. ( 24262339 )	Talai A...Ng YT	2014
35	Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. ( 23485853 )	Groh J...Martini R	2013
36	Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). ( 23418007 )	Sun Y...Maat-Kievit AJ	2013
37	Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis. ( 23263384 )	Paniagua Bravo A...Goebell E	2013
38	CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. ( 23180398 )	Bouhouche A...Yahyaoui M	2013
39	Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. ( 23042927 )	Dyke JP...Ballon D	2013
40	Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. ( 22832778 )	P?rez-Poyato MS...Mil? M	2013
41	Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24135299 )	Whiting RE...Katz ML	2013
42	Treatment of the Ppt1(-/-) mouse model of infantile neuronal ceroid lipofuscinosis with the N-methyl-D-aspartate (NMDA) receptor antagonist memantine. ( 24014511 )	Finn R...Pearce DA	2013
43	Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease). ( 24014510 )	Sands MS	2013
44	Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature. ( 23956585 )	Verma R...Malhotra HS	2013
45	A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. ( 23857568 )	Miller JN...Pearce DA	2013
46	Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. ( 23768618 )	Shen J...Liu J	2013
47	Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). ( 23747979 )	Hawkins-Salsbury JA...Sands MS	2013
48	Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. ( 23131032 )	Sondhi D...Crystal RG	2012
49	Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. ( 22792360 )	Meng Y...Lobel P	2012
50	Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis. ( 22778966 )	Huhtala T...N?rv?nen A	2012

Sources

Genes for Ceroid Lipofuscinosis, Neuronal, 1

Genes related to Ceroid Lipofuscinosis, Neuronal, 1 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	1712.73	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Gene name Variants (show sections)	9425237 20301601 9571187 (more) 10416973 11506414 17261688 9664077 25205113 7637805 10416973 10781062 16601878 8786130 8325646 10874636 10679943 15464427 18948101 8803767 11020216 11332777 12483688 14528005 9571187 17341491 11589008 10658183 8633062 20036592 18704195 16368712 17044973 10737604 9685319 9247083 9151315 17565660 16364693 11588996 11506414 11440996 10231585 9648881 17990914 16644870 11520175 10191108 16571600 19733542 8020979 9664077 10191116
2	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	19.36	DISEASES inferred ¹⁵
3	CLN5	CLN5 Intracellular Trafficking Protein	Protein Coding	18.97	DISEASES inferred ¹⁵
4	CLN8	CLN8 Transmembrane ER And ERGIC Protein	Protein Coding	18.85	DISEASES inferred ¹⁵
5	CLN6	CLN6 Transmembrane ER Protein	Protein Coding	18.51	DISEASES inferred ¹⁵
6	KCTD7	Potassium Channel Tetramerization Domain Containing 7	Protein Coding	17.64	DISEASES inferred ¹⁵
7	TPP1	Tripeptidyl Peptidase 1	Protein Coding	17.5	DISEASES inferred ¹⁵
8	DNAJC5	DnaJ Heat Shock Protein Family (Hsp40) Member C5	Protein Coding	17.39	DISEASES inferred ¹⁵
9	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	16.7	DISEASES inferred ¹⁵
10	C1QBP	Complement C1q Binding Protein	Protein Coding	15.96	DISEASES inferred ¹⁵
11	CTSD	Cathepsin D	Protein Coding	15.79	DISEASES inferred ¹⁵
12	FLI1	Fli-1 Proto-Oncogene, ETS Transcription Factor	Protein Coding	15.63	DISEASES inferred ¹⁵

Sources

Variations for Ceroid Lipofuscinosis, Neuronal, 1

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

⁷⁶ (show all 23)

#	Symbol	AA change	Variation ID	SNP ID
1	PPT1	p.His39Gln	VAR_005548	rs386833627
2	PPT1	p.Gly42Glu	VAR_005549	rs386833631
3	PPT1	p.Thr75Pro	VAR_005550	rs137852696
4	PPT1	p.Asp79Gly	VAR_005551	rs137852697
5	PPT1	p.Tyr109Asp	VAR_005552	rs386833642
6	PPT1	p.Arg122Trp	VAR_005553	rs137852695
7	PPT1	p.Gln177Glu	VAR_005555	rs386833650
8	PPT1	p.Val181Leu	VAR_005556	rs148412181
9	PPT1	p.Val181Met	VAR_005557	rs148412181
10	PPT1	p.Leu219Gln	VAR_005558	rs137852698
11	PPT1	p.Tyr247His	VAR_005559	rs386833665
12	PPT1	p.Gly250Val	VAR_005560	rs386833666
13	PPT1	p.Gly108Arg	VAR_018511	rs137852701
14	PPT1	p.Trp38Cys	VAR_058434	rs386833626
15	PPT1	p.Cys45Tyr	VAR_066874	rs137852702
16	PPT1	p.Ser138Leu	VAR_066875	rs386833646
17	PPT1	p.Cys152Tyr	VAR_066876	rs386833647
18	PPT1	p.His187Arg	VAR_066877	rs386833657
19	PPT1	p.Pro189Arg	VAR_066878	rs386833658
20	PPT1	p.Leu222Pro	VAR_066879	rs386833661
21	PPT1	p.Val228Gly	VAR_066880	rs386833663
22	PPT1	p.Trp296Arg	VAR_066881	rs386833669
23	PPT1	p.Leu305Pro	VAR_066882	rs386833671

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

⁶ (show top 50) (show all 274)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PPT1	NM_000310.3(PPT1): c.587G> A (p.Arg196His)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 40080437: 40080437
2	PPT1	NM_000310.3(PPT1): c.587G> A (p.Arg196His)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 40546109: 40546109
3	PPT1	NM_000310.3(PPT1): c.175_177delGAG (p.Glu59del)	deletion	Uncertain significance	rs1553167495	GRCh38	Chromosome 1, 40092455: 40092457
4	PPT1	NM_000310.3(PPT1): c.175_177delGAG (p.Glu59del)	deletion	Uncertain significance	rs1553167495	GRCh37	Chromosome 1, 40558126: 40558129
5	PPT1	NM_000310.3(PPT1): c.281_282delCA (p.Thr94Serfs)	deletion	Likely pathogenic	rs1553167479	GRCh38	Chromosome 1, 40092125: 40092126
6	PPT1	NM_000310.3(PPT1): c.281_282delCA (p.Thr94Serfs)	deletion	Likely pathogenic	rs1553167479	GRCh37	Chromosome 1, 40557796: 40557798
7	PPT1	NM_000310.3(PPT1): c.338delG (p.Gly113Aspfs)	deletion	Likely pathogenic	rs1553167474	GRCh38	Chromosome 1, 40092069: 40092069
8	PPT1	NM_000310.3(PPT1): c.338delG (p.Gly113Aspfs)	deletion	Likely pathogenic	rs1553167474	GRCh37	Chromosome 1, 40557740: 40557741
9	PPT1	NM_000310.3(PPT1): c.433+1G> A	single nucleotide variant	Likely pathogenic	rs1553167415	GRCh38	Chromosome 1, 40091328: 40091328
10	PPT1	NM_000310.3(PPT1): c.433+1G> A	single nucleotide variant	Likely pathogenic	rs1553167415	GRCh37	Chromosome 1, 40557000: 40557000
11	PPT1	NM_000310.3(PPT1): c.798+2T> C	single nucleotide variant	Likely pathogenic	rs1553166337	GRCh38	Chromosome 1, 40076840: 40076840
12	PPT1	NM_000310.3(PPT1): c.798+2T> C	single nucleotide variant	Likely pathogenic	rs1553166337	GRCh37	Chromosome 1, 40542512: 40542512
13	PPT1	NM_000310.3(PPT1): c.721delT (p.Ser241Argfs)	deletion	Likely pathogenic	rs1553166499	GRCh38	Chromosome 1, 40078565: 40078565
14	PPT1	NM_000310.3(PPT1): c.721delT (p.Ser241Argfs)	deletion	Likely pathogenic	rs1553166499	GRCh37	Chromosome 1, 40544236: 40544237
15	PPT1	NM_000310.3(PPT1): c.776dup (p.Glu260Glyfs)	duplication	Likely pathogenic	rs1349528345	GRCh38	Chromosome 1, 40076864: 40076864
16	PPT1	NM_000310.3(PPT1): c.776dup (p.Glu260Glyfs)	duplication	Likely pathogenic	rs1349528345	GRCh37	Chromosome 1, 40542535: 40542535
17	PPT1	NM_000310.3(PPT1): c.529_530insATCG	insertion	Uncertain significance	rs1475500814	GRCh38	Chromosome 1, 40073531: 40073532
18	PPT1	NM_000310.3(PPT1): c.529_530insATCG	insertion	Uncertain significance	rs1475500814	GRCh37	Chromosome 1, 40539203: 40539203
19	PPT1	NM_000310.3(PPT1): c.363-2A> G	single nucleotide variant	Likely pathogenic	rs1553167430	GRCh38	Chromosome 1, 40091401: 40091401
20	PPT1	NM_000310.3(PPT1): c.363-2A> G	single nucleotide variant	Likely pathogenic	rs1553167430	GRCh37	Chromosome 1, 40557073: 40557073
21	PPT1	NM_000310.3(PPT1): c.799-2A> G	single nucleotide variant	Likely pathogenic	rs1553166147	GRCh38	Chromosome 1, 40074185: 40074185
22	PPT1	NM_000310.3(PPT1): c.799-2A> G	single nucleotide variant	Likely pathogenic	rs1553166147	GRCh37	Chromosome 1, 40539857: 40539857
23	PPT1	NM_000310.3(PPT1): c.835C> T (p.Gln279Ter)	single nucleotide variant	Likely pathogenic	rs1553166135	GRCh38	Chromosome 1, 40074147: 40074147
24	PPT1	NM_000310.3(PPT1): c.835C> T (p.Gln279Ter)	single nucleotide variant	Likely pathogenic	rs1553166135	GRCh37	Chromosome 1, 40539819: 40539819
25	PPT1	NM_000310.3(PPT1): c.529_530insGTCA	insertion	Uncertain significance	rs1553166030	GRCh38	Chromosome 1, 40073531: 40073532
26	PPT1	NM_000310.3(PPT1): c.529_530insGTCA	insertion	Uncertain significance	rs1553166030	GRCh37	Chromosome 1, 40539203: 40539203
27	PPT1	NM_000310.3(PPT1): c.18_21delCCTG (p.Leu7Glyfs)	deletion	Likely pathogenic	rs1553167863	GRCh38	Chromosome 1, 40097218: 40097221
28	PPT1	NM_000310.3(PPT1): c.18_21delCCTG (p.Leu7Glyfs)	deletion	Likely pathogenic	rs1553167863	GRCh37	Chromosome 1, 40562889: 40562893
29	PPT1	NM_000310.3(PPT1): c.529_530insAGCA	insertion	Uncertain significance	rs1553166029	GRCh38	Chromosome 1, 40073531: 40073532
30	PPT1	NM_000310.3(PPT1): c.529_530insAGCA	insertion	Uncertain significance	rs1553166029	GRCh37	Chromosome 1, 40539203: 40539203
31	PPT1	NM_000310.3(PPT1): c.521_532dup	duplication	Uncertain significance	rs1553166026	GRCh38	Chromosome 1, 40073529: 40073540
32	PPT1	NM_000310.3(PPT1): c.521_532dup	duplication	Uncertain significance	rs1553166026	GRCh37	Chromosome 1, 40539200: 40539200
33	PPT1	NM_000310.3(PPT1): c.29_41dup (p.Leu15Glyfs)	duplication	Likely pathogenic	rs762226836	GRCh38	Chromosome 1, 40097198: 40097210
34	PPT1	NM_000310.3(PPT1): c.29_41dup (p.Leu15Glyfs)	duplication	Likely pathogenic	rs762226836	GRCh37	Chromosome 1, 40562869: 40562869
35	PPT1	NM_000310.3(PPT1): c.17G> A (p.Cys6Tyr)	single nucleotide variant	Uncertain significance	rs202241486	GRCh37	Chromosome 1, 40562894: 40562894
36	PPT1	NM_000310.3(PPT1): c.17G> A (p.Cys6Tyr)	single nucleotide variant	Uncertain significance	rs202241486	GRCh38	Chromosome 1, 40097222: 40097222
37	PPT1	NM_000310.3(PPT1): c.71T> C (p.Leu24Pro)	single nucleotide variant	Uncertain significance	rs746667989	GRCh37	Chromosome 1, 40562840: 40562840
38	PPT1	NM_000310.3(PPT1): c.71T> C (p.Leu24Pro)	single nucleotide variant	Uncertain significance	rs746667989	GRCh38	Chromosome 1, 40097168: 40097168
39	PPT1	NM_000310.3(PPT1): c.817G> A (p.Glu273Lys)	single nucleotide variant	Uncertain significance	rs1193191643	GRCh38	Chromosome 1, 40074165: 40074165
40	PPT1	NM_000310.3(PPT1): c.817G> A (p.Glu273Lys)	single nucleotide variant	Uncertain significance	rs1193191643	GRCh37	Chromosome 1, 40539837: 40539837
41	PPT1	NM_000310.3(PPT1): c.914T> G (p.Leu305Arg)	single nucleotide variant	Uncertain significance	rs386833671	GRCh38	Chromosome 1, 40074068: 40074068
42	PPT1	NM_000310.3(PPT1): c.914T> G (p.Leu305Arg)	single nucleotide variant	Uncertain significance	rs386833671	GRCh37	Chromosome 1, 40539740: 40539740
43	PPT1	NM_000310.3(PPT1): c.147A> C (p.Leu49Phe)	single nucleotide variant	Uncertain significance	rs781048683	GRCh38	Chromosome 1, 40092485: 40092485
44	PPT1	NM_000310.3(PPT1): c.147A> C (p.Leu49Phe)	single nucleotide variant	Uncertain significance	rs781048683	GRCh37	Chromosome 1, 40558157: 40558157
45	PPT1	NM_000310.3(PPT1): c.362+4C> T	single nucleotide variant	Uncertain significance	rs534592472	GRCh38	Chromosome 1, 40092041: 40092041
46	PPT1	NM_000310.3(PPT1): c.362+4C> T	single nucleotide variant	Uncertain significance	rs534592472	GRCh37	Chromosome 1, 40557713: 40557713
47	PPT1	NM_000310.3(PPT1): c.445C> A (p.Leu149Ile)	single nucleotide variant	Uncertain significance	rs775899980	GRCh37	Chromosome 1, 40555173: 40555173
48	PPT1	NM_000310.3(PPT1): c.445C> A (p.Leu149Ile)	single nucleotide variant	Uncertain significance	rs775899980	GRCh38	Chromosome 1, 40089501: 40089501
49	PPT1	NM_000310.3(PPT1): c.875T> C (p.Leu292Ser)	single nucleotide variant	Uncertain significance	rs199708990	GRCh38	Chromosome 1, 40074107: 40074107
50	PPT1	NM_000310.3(PPT1): c.875T> C (p.Leu292Ser)	single nucleotide variant	Uncertain significance	rs199708990	GRCh37	Chromosome 1, 40539779: 40539779

Sources

Expression for Ceroid Lipofuscinosis, Neuronal, 1

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 1.

Sources

Pathways for Ceroid Lipofuscinosis, Neuronal, 1

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Fatty acid metabolism	hsa01212
2	Fatty acid elongation	hsa00062
3	Lysosome	hsa04142

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Lysosome ³⁸	11.19	CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

Sources

GO Terms for Ceroid Lipofuscinosis, Neuronal, 1

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:0045121	9.54	CLN3 CTSD PPT1
2	synaptic vesicle	GO:0008021	9.5	CLN3 DNAJC5 PPT1
3	melanosome	GO:0042470	9.43	CTSD DNAJC5 TPP1
4	lysosomal lumen	GO:0043202	9.33	CTSD PPT1 TPP1
5	lysosomal membrane	GO:0005765	9.26	CLN3 CLN5 DNAJC5 MFSD8
6	lysosome	GO:0005764	9.1	CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of neuron apoptotic process	GO:0043524	9.61	CLN3 DNAJC5 PPT1
2	neuron development	GO:0048666	9.52	MFSD8 PPT1
3	visual perception	GO:0007601	9.49	CLN6 PPT1
4	negative regulation of proteolysis	GO:0045861	9.48	CLN3 CLN8
5	ceramide metabolic process	GO:0006672	9.46	CLN3 CLN8
6	lysosomal lumen acidification	GO:0007042	9.46	CLN3 CLN5 CLN6 PPT1
7	neuromuscular process controlling balance	GO:0050885	9.37	CLN3 TPP1
8	lysosome organization	GO:0007040	9.35	CLN3 CLN6 MFSD8 PPT1 TPP1
9	associative learning	GO:0008306	9.32	CLN3 PPT1
10	cellular macromolecule catabolic process	GO:0044265	9.26	CLN6 PPT1
11	adult locomotory behavior	GO:0008344	9.21	PPT1
12	protein catabolic process	GO:0030163	9.17	CLN3 CLN6 CLN8 CTSD TPP1 PPT1
13	cellular protein catabolic process	GO:0044257	9.1	PPT1

Sources

Sources for Ceroid Lipofuscinosis, Neuronal, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ceroid Lipofuscinosis, Neuronal, 1

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Diseases related to Ceroid Lipofuscinosis, Neuronal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 1:

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 1

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

Drugs for Ceroid Lipofuscinosis, Neuronal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 1

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 1:

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 1:

Publications for Ceroid Lipofuscinosis, Neuronal, 1

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

Genes for Ceroid Lipofuscinosis, Neuronal, 1

Genes related to Ceroid Lipofuscinosis, Neuronal, 1 (1 elite genes):

Variations for Ceroid Lipofuscinosis, Neuronal, 1

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

Expression for Ceroid Lipofuscinosis, Neuronal, 1

Pathways for Ceroid Lipofuscinosis, Neuronal, 1

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to KEGG:

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

GO Terms for Ceroid Lipofuscinosis, Neuronal, 1

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

Sources for Ceroid Lipofuscinosis, Neuronal, 1