MCID: FZL001
MIFTS: 25

Fazio Londe Syndrome malady

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

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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 based summary: Fazio Londe Syndrome, also known as fazio-londe disease, is related to brown-vialetto-van laere syndrome and motor neuron disease, and has symptoms including 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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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
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Fazio Londe Syndrome, Aliases & Descriptions:

Name: Fazio Londe Syndrome 42
Fazio-Londe Disease 42 20 46 48
Progressive Bulbar Paralysis of Childhood 42 48
Progressive Bulbar Palsy of Childhood 48 62
 
Bulbar Hereditary Motor Neuronopathy Type Ii 42
Fazio-Londe Syndrome 62
Bulbar Hmn Ii 42


Classifications:

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


External Ids:

OMIM46 211500
MESH via Orphanet35 D010244
UMLS via Orphanet63 C0015708, C0393540

Related Diseases for Fazio Londe Syndrome

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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
2motor neuron disease10.4
3axonal neuropathy10.4
4neuronitis10.4
5neuropathy10.4
6giant axonal neuropathy10.4
7progressive bulbar palsy10.3

Graphical network of diseases related to Fazio Londe Syndrome:



Diseases related to fazio londe syndrome

Symptoms for Fazio Londe Syndrome

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Symptoms by clinical synopsis from OMIM:

211500

Clinical features from OMIM:

211500

HPO human phenotypes related to Fazio Londe Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 ptosis HP:0000508
3 bulbar palsy HP:0001283
4 facial diplegia HP:0001349
5 dysphagia HP:0002015
6 progressive inspiratory stridor HP:0005951
7 generalized hyperreflexia HP:0007034
8 diaphragmatic weakness HP:0009113

Drugs & Therapeutics for Fazio Londe Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Fazio Londe Syndrome

Genetic Tests for Fazio Londe Syndrome

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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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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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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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Clinvar genetic disease variations for Fazio Londe Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SLC52A3SLC52A3, 1198A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Fazio Londe Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet