MCID: FZL001
MIFTS: 20

Fazio Londe Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Fazio Londe Syndrome

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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:47 211500

Aliases & Classifications for Fazio Londe Syndrome

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43NIH Rare Diseases, 20GeneTests, 47OMIM, 62UMLS
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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 43
fazio-londe disease 43 20 47
bulbar hereditary motor neuronopathy type ii 43
progressive bulbar paralysis of childhood 43
fazio-londe syndrome 62
bulbar hmn ii 43


Related Diseases for Fazio Londe Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fazio Londe Syndrome

Search NIH Clinical Center for Fazio Londe Syndrome

Genetic Tests for Fazio Londe Syndrome

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20GeneTests
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Genetic tests related to Fazio Londe Syndrome:

id Genetic test Affiliating Genes
1 Fazio-Londe Disease20 SLC52A3

Anatomical Context for Fazio Londe Syndrome

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33MalaCards
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MalaCards organs/tissues related to Fazio Londe Syndrome:

33
Eye

Animal Models for Fazio Londe Syndrome or affiliated genes

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Publications for Fazio Londe Syndrome

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52PubMed
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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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fazio Londe Syndrome

Search GEO for disease gene expression data for Fazio Londe Syndrome.

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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet