MCID: FZL001
MIFTS: 20

Fazio Londe Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Fazio Londe Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Fazio londe syndrome, also known as progressive bulbar paralysis (or palsy) of childhood, is an inherited motor neuron disease found in children. this condition is characterized by facial weakness, dysphagia, stridor, dysarthria, and paralysis of the eye muscles. there is evidence that there are at least three distinct subtypes: a very rare autosomal dominant form and two variants with probable autosomal recessive inheritance either with early onset of respiratory symptoms and rapid progression to death or later onset, less prominent respiratory symptoms and lengthy clinical course. last updated: 3/9/2010

MalaCards: Fazio Londe Syndrome, also known as fazio-londe disease, is related to brown-vialetto-van laere syndrome and axonal neuropathy. An important gene associated with Fazio Londe Syndrome is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3). Affiliated tissues include eye.

Description from OMIM:48 211500

Aliases & Classifications for Fazio Londe Syndrome

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44NIH Rare Diseases, 21GeneTests, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

fazio londe syndrome 44
fazio-londe disease 44 21 48
bulbar hereditary motor neuronopathy type ii 44
progressive bulbar paralysis of childhood 44
fazio-londe syndrome 63
bulbar hmn ii 44


Related Diseases for Fazio Londe Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Fazio Londe Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome10.5
2axonal neuropathy10.4
3neuronitis10.4
4motor neuron disease10.4
5neuropathy10.4
6giant axonal neuropathy10.4

Graphical network of diseases related to Fazio Londe Syndrome:



Diseases related to fazio londe syndrome

Symptoms for Fazio Londe Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

211500

Clinical features from OMIM:

211500

Drugs & Therapeutics for Fazio Londe Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fazio Londe Syndrome

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21GeneTests
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Genetic tests related to Fazio Londe Syndrome:

id Genetic test Affiliating Genes
1 Fazio-Londe Disease21 SLC52A3

Anatomical Context for Fazio Londe Syndrome

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34MalaCards
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MalaCards organs/tissues related to Fazio Londe Syndrome:

34
Eye

Animal Models for Fazio Londe Syndrome or affiliated genes

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Publications for Fazio Londe Syndrome

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53PubMed
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Articles related to Fazio Londe Syndrome:

idTitleAuthorsYear
1
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. (23107375)
2012
2
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. (21110228)
2011

Variations for Fazio Londe Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fazio Londe Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC52A3SLC52A3, 1198A-C, -2single nucleotide variantPathogenic/card/fazio_londe_syndrome

Expression for genes affiliated with Fazio Londe Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fazio Londe Syndrome

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Pathways for genes affiliated with Fazio Londe Syndrome

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Compounds for genes affiliated with Fazio Londe Syndrome

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GO Terms for genes affiliated with Fazio Londe Syndrome

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Products for genes affiliated with Fazio Londe Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fazio Londe Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet