MCID: FZL001
MIFTS: 16

Fazio Londe Syndrome malady

Neuronal diseases category

Summaries for Fazio Londe Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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:46 211500

Aliases & Classifications for Fazio Londe Syndrome

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42NIH Rare Diseases, 20GeneTests, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

fazio londe syndrome 42
fazio-londe disease 42 20 46
bulbar hereditary motor neuronopathy type ii 42
progressive bulbar paralysis of childhood 42
fazio-londe syndrome 60
bulbar hmn ii 42


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 neuropathy10.3
3neuronitis10.3
4motor neuron disease10.3
5neuropathy10.3
6giant axonal neuropathy10.3

Graphical network of diseases related to Fazio Londe Syndrome:



Diseases related to fazio londe syndrome

Clinical Features for Fazio Londe Syndrome

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46OMIM
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Clinical features from OMIM:

211500

Clinical synopsis from OMIM:

211500

Drugs & Therapeutics for Fazio Londe Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Fazio Londe Syndrome:

32
Eye

Animal Models for Fazio Londe Syndrome or affiliated genes

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Publications for Fazio Londe Syndrome

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Genetic Variations for Fazio Londe Syndrome

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Expression for genes affiliated with Fazio Londe Syndrome

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Sources:
1BioGPS, 15Gene 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet