Ceroid Lipofuscinosis, Neuronal, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRD179 MIFTS: 39	Ceroid Lipofuscinosis, Neuronal, 7 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 ⁵⁷ ⁷⁵ ¹³ ⁷³

Cln7 ⁵⁷ ¹² ⁵³ ²⁵ ⁷⁵

Neuronal Ceroid Lipofuscinosis 7 ¹² ⁵³ ¹⁵

Cln7 Disease ⁵³ ²⁵ ⁵⁹

Ceroid Lipofuscinosis Neuronal 7 ²⁹ ⁶

Cln7 Disease, Late Infantile ⁵³ ²⁵

Mfsd8-Related Neuronal Ceroid Lipofuscinosis ²⁵

Lipofuscinosis, Ceroid, Neuronal, Type 7 ⁴⁰

Turkish Variant Late Infantile Ncl ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive disorder
onset in childhood (ages 1.5 to 7 years)
some patients show normal development until onset of disorder
patients often become wheelchair-bound
intracellular accumulation of material can occur in neuronal and nonneuronal cells
intracellular accumulation of material may not always be apparent

HPO:

³²

ceroid lipofuscinosis, neuronal, 7:
Onset and clinical course rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Neuronal ceroid lipofuscinosis

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 610951

Disease Ontology ¹² DOID:0110722

ICD10 ³³ E75.4

Orphanet ⁵⁹ ORPHA228366

UMLS via Orphanet ⁷⁴ C1838571

ICD10 via Orphanet ³⁴ E75.4

MedGen ⁴² C1838571

MeSH ⁴⁴ D009472

UMLS ⁷³ C1838571

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Summaries for Ceroid Lipofuscinosis, Neuronal, 7

NIH Rare Diseases : ⁵³ Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as cln7, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid lipofuscinosis, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. Related phenotypes are ataxia and eeg abnormality

Disease Ontology : ¹² A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has material basis in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Genetics Home Reference : ²⁵ CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.

OMIM : ⁵⁷ The neuronal ceroid lipofuscinoses (NCL, or 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 (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610951)

UniProtKB/Swiss-Prot : ⁷⁵ Ceroid lipofuscinosis, neuronal, 7: A form of neuronal ceroid lipofuscinosis with onset in 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. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.

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Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	ceroid lipofuscinosis, neuronal, 1	28.0	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2	neuronal ceroid lipofuscinosis	26.2	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
3	ceroid lipofuscinosis, neuronal, 8	11.4
4	neuronitis	10.2
5	visual pathway disease	9.9	CLN8 MFSD8
6	retinitis	9.9
7	retinal degeneration	9.9
8	visual cortex disease	9.8	CLN8 MFSD8
9	ceroid lipofuscinosis, neuronal, 3	9.2	CLN5 PPT1
10	ceroid lipofuscinosis, neuronal, 10	9.1	CLN5 CLN6 CLN8
11	cerebral atrophy	9.0	CLN6 CLN8 DNAJC5
12	adult neuronal ceroid lipofuscinosis	8.9	CLN6 DNAJC5 PPT1
13	ceroid lipofuscinosis, neuronal, 9	8.8	CLN5 CLN6 CLN8 MFSD8
14	ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	8.8	CLN5 CLN6 CLN8 MFSD8
15	ceroid lipofuscinosis, neuronal, 13	8.8	CLN5 CLN8 DNAJC5
16	lipid storage disease	8.7	CLN5 CLN6 CLN8 PPT1
17	ceroid storage disease	7.8	CLN5 CLN6 CLN8 DNAJC5 PPT1
18	ceroid lipofuscinosis, neuronal, 11	7.3	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
19	visual epilepsy	7.3	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
20	ceroid lipofuscinosis, neuronal, 2	7.3	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
21	neuronal ceroid-lipofuscinoses	7.3	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 7:

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Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
ataxia
neurodegeneration
cerebellar atrophy
cerebral atrophy
seizures, refractory
more

Head And Neck Eyes:
optic atrophy
blindness
retinopathy
loss of vision, progressive

Clinical features from OMIM:

610951

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

³² (show all 15)

#	Description	HPO Source Accession
1	ataxia ³²	HP:0001251
2	eeg abnormality ³²	HP:0002353
3	sleep disturbance ³²	HP:0002360
4	global developmental delay ³²	HP:0001263
5	delayed speech and language development ³²	HP:0000750
6	optic atrophy ³²	HP:0000648
7	blindness ³²	HP:0000618
8	retinopathy ³²	HP:0000488
9	generalized myoclonic seizures ³²	HP:0002123
10	visual loss ³²	HP:0000572
11	neurodegeneration ³²	HP:0002180
12	mental deterioration ³²	HP:0001268
13	cerebellar atrophy ³²	HP:0001272
14	cerebral atrophy ³²	HP:0002059
15	pigmentary retinopathy ³²	HP:0000580

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 7:

ataxia, myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.65	CLN6 CLN8 DNAJC5 MFSD8 PPT1
2	nervous system	MP:0003631	9.63	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
3	pigmentation	MP:0001186	9.13	CLN8 MFSD8 PPT1
4	vision/eye	MP:0005391	9.1	CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

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Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 7

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Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

#	Genetic test	Affiliating Genes
1	Ceroid Lipofuscinosis Neuronal 7 ²⁹	MFSD8

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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

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Publications for Ceroid Lipofuscinosis, Neuronal, 7

Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

#	Title	Authors	Year
1	The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? ( 26762174 )	Faller K.M....Guerreiro R.J.	2016
2	Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. ( 24423645 )	Damme M....Storch S.	2014

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Genes for Ceroid Lipofuscinosis, Neuronal, 7

Genes related to Ceroid Lipofuscinosis, Neuronal, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	1699.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	17564970 15074367 19177532 (more) 20301601 19277732 19201763 18850119
2	CLN8	CLN8, Transmembrane ER And ERGIC Protein	Protein Coding	18.57	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CLN6	CLN6, Transmembrane ER Protein	Protein Coding	18.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CLN5	CLN5, Intracellular Trafficking Protein	Protein Coding	18.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	DNAJC5	DnaJ Heat Shock Protein Family (Hsp40) Member C5	Protein Coding	17.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	17.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Ceroid Lipofuscinosis, Neuronal, 7

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

⁷⁵ (show all 15)

#	Symbol	AA change	Variation ID	SNP ID
1	MFSD8	p.Gly310Asp	VAR_037177	rs118203975
2	MFSD8	p.Gly429Asp	VAR_037180	rs118203976
3	MFSD8	p.Gly52Arg	VAR_058427	rs779838200
4	MFSD8	p.Tyr121Cys	VAR_058428	rs118203978
5	MFSD8	p.Arg139His	VAR_058429	rs749704755
6	MFSD8	p.Ala157Pro	VAR_058430
7	MFSD8	p.Thr294Lys	VAR_058431	rs140948465
8	MFSD8	p.Pro447Leu	VAR_058432
9	MFSD8	p.Arg465Trp	VAR_058433
10	MFSD8	p.Thr160Ile	VAR_066915
11	MFSD8	p.Thr160Asn	VAR_066916
12	MFSD8	p.Thr458Lys	VAR_066917
13	MFSD8	p.Arg465Gln	VAR_066918
14	MFSD8	p.Met470Val	VAR_066919	rs764549054
15	MFSD8	p.Pro412Leu	VAR_072674	rs267607235

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

⁶

(show top 50) (show all 97)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MFSD8	NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp)	single nucleotide variant	Pathogenic	rs118203975	GRCh37	Chromosome 4, 128851907: 128851907
2	MFSD8	NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp)	single nucleotide variant	Pathogenic	rs118203975	GRCh38	Chromosome 4, 127930752: 127930752
3	MFSD8	NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp)	single nucleotide variant	Pathogenic	rs118203976	GRCh37	Chromosome 4, 128842743: 128842743
4	MFSD8	NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp)	single nucleotide variant	Pathogenic	rs118203976	GRCh38	Chromosome 4, 127921588: 127921588
5	MFSD8	NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter)	single nucleotide variant	Pathogenic	rs118203977	GRCh37	Chromosome 4, 128851942: 128851942
6	MFSD8	NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter)	single nucleotide variant	Pathogenic	rs118203977	GRCh38	Chromosome 4, 127930787: 127930787
7	MFSD8	NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu)	single nucleotide variant	Pathogenic	rs267607235	GRCh37	Chromosome 4, 128842794: 128842794
8	MFSD8	NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu)	single nucleotide variant	Pathogenic	rs267607235	GRCh38	Chromosome 4, 127921639: 127921639
9	MFSD8	NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys)	single nucleotide variant	Likely pathogenic	rs140948465	GRCh37	Chromosome 4, 128851955: 128851955
10	MFSD8	NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys)	single nucleotide variant	Likely pathogenic	rs140948465	GRCh38	Chromosome 4, 127930800: 127930800
11	MFSD8	MFSD8, 2-BP DEL/2-BP INS	indel	Pathogenic
12	MFSD8	NM_152778.2(MFSD8): c.754+2T> A	single nucleotide variant	Pathogenic	rs587778809	GRCh37	Chromosome 4, 128859936: 128859936
13	MFSD8	NM_152778.2(MFSD8): c.754+2T> A	single nucleotide variant	Pathogenic	rs587778809	GRCh38	Chromosome 4, 127938781: 127938781
14	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Benign	rs150418024	GRCh38	Chromosome 4, 127921956: 127921956
15	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Benign	rs150418024	GRCh37	Chromosome 4, 128843111: 128843111
16	MFSD8	NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter)	single nucleotide variant	Pathogenic	rs724159970	GRCh38	Chromosome 4, 127921733: 127921733
17	MFSD8	NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter)	single nucleotide variant	Pathogenic	rs724159970	GRCh37	Chromosome 4, 128842888: 128842888
18	MFSD8	NM_152778.2(MFSD8): c.1102G> C (p.Asp368His)	single nucleotide variant	Pathogenic	rs727502800	GRCh38	Chromosome 4, 127921860: 127921860
19	MFSD8	NM_152778.2(MFSD8): c.1102G> C (p.Asp368His)	single nucleotide variant	Pathogenic	rs727502800	GRCh37	Chromosome 4, 128843015: 128843015
20	MFSD8	NM_152778.2(MFSD8): c.863+3_863+4insT	insertion	Pathogenic	rs727502801	GRCh37	Chromosome 4, 128854136: 128854137
21	MFSD8	NM_152778.2(MFSD8): c.863+3_863+4insT	insertion	Pathogenic	rs727502801	GRCh38	Chromosome 4, 127932981: 127932982
22	MFSD8	NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter)	single nucleotide variant	Pathogenic	rs724159971	GRCh37	Chromosome 4, 128841898: 128841898
23	MFSD8	NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter)	single nucleotide variant	Pathogenic	rs724159971	GRCh38	Chromosome 4, 127920743: 127920743
24	MFSD8	NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn)	single nucleotide variant	Uncertain significance	rs147295085	GRCh37	Chromosome 4, 128851950: 128851950
25	MFSD8	NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn)	single nucleotide variant	Uncertain significance	rs147295085	GRCh38	Chromosome 4, 127930795: 127930795
26	MFSD8	NM_152778.2(MFSD8): c.63-4delC	deletion	Conflicting interpretations of pathogenicity	rs755011754	GRCh37	Chromosome 4, 128878751: 128878751
27	MFSD8	NM_152778.2(MFSD8): c.63-4delC	deletion	Conflicting interpretations of pathogenicity	rs755011754	GRCh38	Chromosome 4, 127957596: 127957596
28	MFSD8	NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser)	single nucleotide variant	Uncertain significance	rs112734134	GRCh37	Chromosome 4, 128861050: 128861050
29	MFSD8	NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser)	single nucleotide variant	Uncertain significance	rs112734134	GRCh38	Chromosome 4, 127939895: 127939895
30	MFSD8	NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28544073	GRCh37	Chromosome 4, 128861116: 128861116
31	MFSD8	NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28544073	GRCh38	Chromosome 4, 127939961: 127939961
32	MFSD8	NM_152778.2(MFSD8): c.1136T> C (p.Phe379Ser)	single nucleotide variant	Uncertain significance	rs191172038	GRCh37	Chromosome 4, 128842893: 128842893
33	MFSD8	NM_152778.2(MFSD8): c.1136T> C (p.Phe379Ser)	single nucleotide variant	Uncertain significance	rs191172038	GRCh38	Chromosome 4, 127921738: 127921738
34	MFSD8	NM_152778.2(MFSD8): c.998+4A> G	single nucleotide variant	Uncertain significance	rs796052745	GRCh37	Chromosome 4, 128851834: 128851834
35	MFSD8	NM_152778.2(MFSD8): c.998+4A> G	single nucleotide variant	Uncertain significance	rs796052745	GRCh38	Chromosome 4, 127930679: 127930679
36	MFSD8	NM_152778.2(MFSD8): c.343G> A (p.Val115Met)	single nucleotide variant	Uncertain significance	rs183450731	GRCh38	Chromosome 4, 127943848: 127943848
37	MFSD8	NM_152778.2(MFSD8): c.343G> A (p.Val115Met)	single nucleotide variant	Uncertain significance	rs183450731	GRCh37	Chromosome 4, 128865003: 128865003
38	MFSD8	NM_152778.2(MFSD8): c.291G> C (p.Trp97Cys)	single nucleotide variant	Uncertain significance	rs796052749	GRCh37	Chromosome 4, 128865055: 128865055
39	MFSD8	NM_152778.2(MFSD8): c.291G> C (p.Trp97Cys)	single nucleotide variant	Uncertain significance	rs796052749	GRCh38	Chromosome 4, 127943900: 127943900
40	MFSD8	NM_152778.2(MFSD8): c.206C> T (p.Pro69Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147750747	GRCh37	Chromosome 4, 128865140: 128865140
41	MFSD8	NM_152778.2(MFSD8): c.206C> T (p.Pro69Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147750747	GRCh38	Chromosome 4, 127943985: 127943985
42	MFSD8	NM_152778.2(MFSD8): c.115A> T (p.Ile39Phe)	single nucleotide variant	Uncertain significance	rs201739608	GRCh37	Chromosome 4, 128878695: 128878695
43	MFSD8	NM_152778.2(MFSD8): c.115A> T (p.Ile39Phe)	single nucleotide variant	Uncertain significance	rs201739608	GRCh38	Chromosome 4, 127957540: 127957540
44	MFSD8	NM_152778.2(MFSD8): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs878855229	GRCh37	Chromosome 4, 128841913: 128841913
45	MFSD8	NM_152778.2(MFSD8): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs878855229	GRCh38	Chromosome 4, 127920758: 127920758
46	MFSD8	NM_152778.2(MFSD8): c.1107G> C (p.Leu369Phe)	single nucleotide variant	Uncertain significance	rs747197852	GRCh38	Chromosome 4, 127921767: 127921767
47	MFSD8	NM_152778.2(MFSD8): c.1107G> C (p.Leu369Phe)	single nucleotide variant	Uncertain significance	rs747197852	GRCh37	Chromosome 4, 128842922: 128842922
48	MFSD8	NM_152778.2(MFSD8): c.1320A> G (p.Leu440=)	single nucleotide variant	Likely benign	rs148864710	GRCh37	Chromosome 4, 128842709: 128842709
49	MFSD8	NM_152778.2(MFSD8): c.1320A> G (p.Leu440=)	single nucleotide variant	Likely benign	rs148864710	GRCh38	Chromosome 4, 127921554: 127921554
50	MFSD8	NM_152778.2(MFSD8): c.435A> C (p.Gly145=)	single nucleotide variant	Likely benign	rs781299975	GRCh37	Chromosome 4, 128864911: 128864911

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Expression for Ceroid Lipofuscinosis, Neuronal, 7

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 7.

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Pathways for Ceroid Lipofuscinosis, Neuronal, 7

Pathways related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Lysosome ³⁷	10.89	CLN5 MFSD8 PPT1

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GO Terms for Ceroid Lipofuscinosis, Neuronal, 7

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	synaptic vesicle	GO:0008021	9.16	DNAJC5 PPT1
2	lysosome	GO:0005764	9.13	CLN5 MFSD8 PPT1
3	lysosomal membrane	GO:0005765	8.8	CLN5 DNAJC5 MFSD8

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of neuron apoptotic process	GO:0043524	9.43	DNAJC5 PPT1
2	cholesterol metabolic process	GO:0008203	9.4	CLN6 CLN8
3	neuron development	GO:0048666	9.37	MFSD8 PPT1
4	lysosome organization	GO:0007040	9.33	CLN6 MFSD8 PPT1
5	neurotransmitter secretion	GO:0007269	9.32	DNAJC5 PPT1
6	cellular macromolecule catabolic process	GO:0044265	9.26	CLN6 PPT1
7	lysosomal lumen acidification	GO:0007042	9.13	CLN5 CLN6 PPT1
8	protein catabolic process	GO:0030163	8.92	CLN5 CLN6 CLN8 PPT1

Sources

Sources for Ceroid Lipofuscinosis, Neuronal, 7

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

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⁴² MedGen

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⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁶¹ PharmGKB

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⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia