MCID: CRD179
MIFTS: 30

Ceroid Lipofuscinosis, Neuronal, 7 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

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Sources:
49OMIM, 11diseasecard, 65UMLS, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 24GTR, 51Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 49 11 65 67
Neuronal Ceroid Lipofuscinosis 7 45 22 24
Cln7 45 22 67
Mfsd8-Related Neuronal Ceroid-Lipofuscinosis 22
 
Turkish Variant Late Infantile Ncl 67
Turkish Variant Late Infantile 22
Cln7 Disease, Late Infantile 45
Cln7 Disease 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
cln7 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 610951
Orphanet51 228366
ICD10 via Orphanet28 E75.4
MedGen34 C1838571
MeSH36 D009472

Summaries for Ceroid Lipofuscinosis, Neuronal, 7

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NIH Rare Diseases:45 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. last updated: 9/2/2015

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 7, also known as neuronal ceroid lipofuscinosis 7, is related to neuronitis and neuronal ceroid lipofuscinosis, and has symptoms including autosomal recessive inheritance, retinopathy and visual loss. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8).

OMIM:49 The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of... (610951) more...

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

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



Diseases related to ceroid lipofuscinosis, neuronal, 7

Symptoms for Ceroid Lipofuscinosis, Neuronal, 7

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Symptoms by clinical synopsis from OMIM:

610951

Clinical features from OMIM:

610951

HPO human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinopathy HP:0000488
3 visual loss HP:0000572
4 pigmentary retinopathy HP:0000580
5 blindness HP:0000618
6 optic atrophy HP:0000648
7 delayed speech and language development HP:0000750
8 ataxia HP:0001251
9 global developmental delay HP:0001263
10 mental deterioration HP:0001268
11 cerebellar atrophy HP:0001272
12 cerebral atrophy HP:0002059
13 generalized myoclonic seizures HP:0002123
14 neurodegeneration HP:0002180
15 eeg abnormality HP:0002353
16 sleep disturbance HP:0002360
17 juvenile onset HP:0003621
18 rapidly progressive HP:0003678

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

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Interventional clinical trials:

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

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

id Genetic test Affiliating Genes
1 Cln7 Disease22 MFSD8
2 Ceroid Lipofuscinosis Neuronal 724

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

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Animal Models for Ceroid Lipofuscinosis, Neuronal, 7 or affiliated genes

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Publications for Ceroid Lipofuscinosis, Neuronal, 7

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Variations for Ceroid Lipofuscinosis, Neuronal, 7

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

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1MFSD8p.Gly310AspVAR_037177
2MFSD8p.Gly429AspVAR_037180
3MFSD8p.Gly52ArgVAR_058427
4MFSD8p.Tyr121CysVAR_058428
5MFSD8p.Arg139HisVAR_058429
6MFSD8p.Ala157ProVAR_058430
7MFSD8p.Thr294LysVAR_058431
8MFSD8p.Pro447LeuVAR_058432
9MFSD8p.Arg465TrpVAR_058433
10MFSD8p.Thr160IleVAR_066915
11MFSD8p.Thr160AsnVAR_066916
12MFSD8p.Thr458LysVAR_066917
13MFSD8p.Arg465GlnVAR_066918
14MFSD8p.Met470ValVAR_066919
15MFSD8p.Pro412LeuVAR_072674

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1MFSD8NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp)single nucleotide variantPathogenicrs118203975GRCh37Chr 4, 128851907: 128851907
2MFSD8NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp)single nucleotide variantPathogenicrs118203976GRCh37Chr 4, 128842743: 128842743
3MFSD8NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter)single nucleotide variantPathogenicrs118203977GRCh37Chr 4, 128851942: 128851942
4MFSD8NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys)single nucleotide variantPathogenicrs118203978GRCh37Chr 4, 128864984: 128864984
5MFSD8NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu)single nucleotide variantPathogenicrs267607235GRCh37Chr 4, 128842794: 128842794
6MFSD8NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys)single nucleotide variantPathogenicrs140948465GRCh37Chr 4, 128851955: 128851955
7MFSD8MFSD8, 2-BP DEL/2-BP INSindelPathogenic
8MFSD8NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter)single nucleotide variantPathogenicrs724159970GRCh38Chr 4, 127921733: 127921733
9MFSD8NM_152778.2(MFSD8): c.1102G> C (p.Asp368His)single nucleotide variantPathogenicrs727502800GRCh38Chr 4, 127921860: 127921860
10MFSD8NM_152778.2(MFSD8): c.863+3_863+4insTinsertionPathogenicrs727502801GRCh37Chr 4, 128854136: 128854137
11MFSD8NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter)single nucleotide variantPathogenicrs724159971GRCh37Chr 4, 128841898: 128841898
12MFSD8NM_152778.2(MFSD8): c.754+2T> Asingle nucleotide variantPathogenicrs587778809GRCh37Chr 4, 128859936: 128859936

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 7

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

Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 7

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GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 7

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Sources for Ceroid Lipofuscinosis, Neuronal, 7

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet