MCID: SPL016
MIFTS: 14

Spielmeyer-Vogt Disease malady

Neuronal category

Summaries for Spielmeyer-Vogt Disease

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33MalaCards
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MalaCards: Spielmeyer-Vogt Disease, also known as juvenile neuronal ceroid lipfuscinosis, is related to batten disease and lip disease. An important gene associated with Spielmeyer-Vogt Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3). Affiliated tissues include thyroid and appendix.

Aliases & Classifications for Spielmeyer-Vogt Disease

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

spielmeyer-vogt disease 43
juvenile neuronal ceroid lipfuscinosis 61


Related Diseases for Spielmeyer-Vogt Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Spielmeyer-Vogt Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1batten disease10.8
2lip disease10.7
3juvenile batten disease10.5
4corneal disease10.3
5neuronal ceroid lipofuscinosis10.0CLN3

Graphical network of diseases related to Spielmeyer-Vogt Disease:



Diseases related to spielmeyer-vogt disease

Clinical Features for Spielmeyer-Vogt Disease

Drugs & Therapeutics for Spielmeyer-Vogt Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spielmeyer-Vogt Disease

Anatomical Context for Spielmeyer-Vogt Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Spielmeyer-Vogt Disease:

33
Thyroid, Appendix

Animal Models for Spielmeyer-Vogt Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spielmeyer-Vogt Disease

Sources:
51PubMed
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Articles related to Spielmeyer-Vogt Disease:

(show all 18)
idTitleAuthorsYear
1
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. (10916181)
2000
2
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-SjAPgren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. (8020979)
1994
3
Spielmeyer-Vogt disease: clinical and neurophysiological aspects. (1657386)
1991
4
Taurine: uptake by platelets and plasma concentration of patients with Spielmeyer-Vogt disease. (2236132)
1990
5
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. (2249854)
1990
6
Non corneal closed eye electroretinography in healthy persons and in patients with neuronal ceroid lipofuscinosis (Stengel-Batten-Spielmeyer-Vogt disease). (7315215)
1981
7
Renal handling of free amino acids in normal adults, in patients with epilepsy, and in patients with Spielmeyer-Vogt-Batten disease. (1164852)
1975
8
Thyroid peroxidase deficiency in Batten-Spielmeyer-Vogt disease. (167705)
1975
9
Early structural changes in a case of late infantile amaurotic idiocy (early form of Batten-Spielmeyer-Vogt disease). (4138919)
1974
10
Sea-blue histiocytes in marrow in Batten-Spielmeyer-Vogt disease. (4141494)
1974
11
Free amino acid levels in the cerebrospinal fluid of normal humans and their variation in cases of epilepsy and Spielmeyer-Vogt-Batten disease. (4416991)
1974
12
The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease. (5054700)
1972
13
Additional electron microscopic observations on two cases of Batten-Spielmeyer-Vogt disease. (Neuronal ceroid-lipofuscinosis). (5101598)
1971
14
Peripheral nerve changes in Tay-Sachs and Batten-Spielmeyer-Vogt disease. (5582385)
1967
15
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease). (13444322)
1957
16
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease); further observations on the presence of vacuolized lymphocytes. (13508309)
1957
17
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease); the neuro-ophthalmologic considerations. (13339900)
1956
18
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease). (13330663)
1956

Genetic Variations for Spielmeyer-Vogt Disease

Expression for genes affiliated with Spielmeyer-Vogt Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spielmeyer-Vogt Disease

Search GEO for disease gene expression data for Spielmeyer-Vogt Disease.

Pathways for genes affiliated with Spielmeyer-Vogt Disease

Compounds for genes affiliated with Spielmeyer-Vogt Disease

GO Terms for genes affiliated with Spielmeyer-Vogt Disease

Products for genes affiliated with Spielmeyer-Vogt Disease

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  • Proteins
  • Lysates
  • Antibodies

Sources for Spielmeyer-Vogt Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet