MCID: FZL002
MIFTS: 25

Fazio-Londe Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Fazio-Londe Disease

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Fazio-Londe Disease, Aliases & Descriptions:

Name: Fazio-Londe Disease 45 10 41
Progressive Bulbar Palsy of Childhood 41 22
Fazio Londe Syndrome 41 20
Bulbar Hereditary Motor Neuronopathy Type Ii 41
 
Progressive Bulbar Paralysis of Childhood 41
Childhood Progressive Bulbar Palsy 60
Fazio-Londe Syndrome 60
Bulbar Hmn Ii 41


Classifications:

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


External Ids:

OMIM45 211500

Summaries for Fazio-Londe Disease

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NIH Rare Diseases:41 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 Disease, also known as progressive bulbar palsy of childhood, is related to brown-vialetto-van laere syndrome and motor neuron disease, and has symptoms including autosomal recessive inheritance, ptosis and bulbar palsy. An important gene associated with Fazio-Londe Disease is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3). Affiliated tissues include eye.

OMIM:45 Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory... (211500) more...

Related Diseases for Fazio-Londe Disease

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Diseases related to Fazio-Londe Disease via text searches within MalaCards or GeneCards Suite 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 Disease:



Diseases related to fazio-londe disease

Symptoms for Fazio-Londe Disease

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Symptoms by clinical synopsis from OMIM:

211500

Clinical features from OMIM:

211500

HPO human phenotypes related to Fazio-Londe Disease:

(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 Disease

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Drug clinical trials:

Search ClinicalTrials for Fazio-Londe Disease

Search NIH Clinical Center for Fazio-Londe Disease

Genetic Tests for Fazio-Londe Disease

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Genetic tests related to Fazio-Londe Disease:

id Genetic test Affiliating Genes
1 Fazio-Londe Disease20 SLC52A3
2 Progressive Bulbar Palsy of Childhood22

Anatomical Context for Fazio-Londe Disease

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MalaCards organs/tissues related to Fazio-Londe Disease:

31
Eye

Animal Models for Fazio-Londe Disease or affiliated genes

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Publications for Fazio-Londe Disease

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Articles related to Fazio-Londe Disease:

idTitleAuthorsYear
1
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
2
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
3
Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease. (581901)
1979

Variations for Fazio-Londe Disease

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Clinvar genetic disease variations for Fazio-Londe Disease:

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

Expression for genes affiliated with Fazio-Londe Disease

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Search GEO for disease gene expression data for Fazio-Londe Disease.

Pathways for genes affiliated with Fazio-Londe Disease

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Compounds for genes affiliated with Fazio-Londe Disease

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GO Terms for genes affiliated with Fazio-Londe Disease

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Products for genes affiliated with Fazio-Londe Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fazio-Londe Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet