MCID: FZL001
MIFTS: 13

Fazio Londe Syndrome malady

Neuronal category

Summaries for Fazio Londe Syndrome

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 syndrome and axonal neuropathy. An important gene associated with Fazio Londe Syndrome is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3).

Description from OMIM:47 211500

Aliases & Classifications for Fazio Londe Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 47OMIM, 61UMLS
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Classifications:

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


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 61
bulbar hmn ii 43


Related Diseases for Fazio Londe Syndrome

Sources:
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 syndrome10.5
2axonal neuropathy10.4
3giant axonal neuropathy10.4

Clinical Features for Fazio Londe Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

211500

Clinical synopsis from OMIM:

211500

Drugs & Therapeutics for Fazio Londe Syndrome

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 Fazio Londe Syndrome

Sources:
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

Animal Models for Fazio Londe Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Fazio Londe Syndrome

Sources:
51PubMed
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Articles related to Fazio Londe Syndrome:

idTitleAuthorsYear
1
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
2
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. (23107375)
2012
3
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
4
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005

Genetic Variations for Fazio Londe Syndrome

Expression for genes affiliated with Fazio Londe Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Fazio Londe Syndrome

GO Terms for genes affiliated with Fazio Londe Syndrome

Products for genes affiliated with Fazio Londe Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fazio Londe Syndrome

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