CLN7
MCID: CRD040
MIFTS: 26

Ceroid Lipofuscinosis Neuronal 7 (CLN7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Ceroid Lipofuscinosis Neuronal 7

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MalaCards based summary: Ceroid Lipofuscinosis Neuronal 7, also known as ceroid lipofuscinosis, neuronal, 7, is related to neuronitis and neuronal ceroid lipofuscinosis, and has symptoms including An important gene associated with Ceroid Lipofuscinosis Neuronal 7 is MFSD8 (major facilitator superfamily domain containing 8).

Description from OMIM:46 610951

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 7

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Ceroid Lipofuscinosis Neuronal 7, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis Neuronal 7 42
Ceroid Lipofuscinosis, Neuronal, 7 46 62
Neuronal Ceroid Lipofuscinosis 7 42 22
 
Cln7 42 20
Cln7 Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
cln7 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 610951
ICD10 via Orphanet26 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 Disease20 MFSD8
2 Ceroid Lipofuscinosis Neuronal 722

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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Ceroid Lipofuscinosis Neuronal 7

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet