MCID: CRD179
MIFTS: 28

Ceroid Lipofuscinosis, Neuronal, 7 malady

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

Summaries for Ceroid Lipofuscinosis, Neuronal, 7

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OMIM:47 The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of... (610951) more...

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 7, also known as cln7 disease, 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).

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 49Orphanet, 24GTR, 28ICD10 via Orphanet
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Ceroid Lipofuscinosis, Neuronal, 7, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis, Neuronal, 7 47 11
Cln7 Disease 43 22 49
Neuronal Ceroid Lipofuscinosis 7 43 24
 
Ceroid Lipofuscinosis Neuronal 7 43
Cln7 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
cln7 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM47 610951
Orphanet49 228366
ICD10 via Orphanet28 E75.4

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

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

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 7

Search 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:

64 (show all 14)
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

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

7
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.754+2T> Asingle nucleotide variantPathogenicGRCh37Chr 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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Compounds 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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Products for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 7

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Sources for Ceroid Lipofuscinosis, Neuronal, 7

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet