MCID: FZL001
MIFTS: 27

Fazio Londe Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Fazio Londe Syndrome

About this section


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 autosomal recessive inheritance, ptosis and bulbar palsy. An important gene associated with Fazio Londe Syndrome is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3). Affiliated tissues include eye.

OMIM:46 Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory... (211500) more...

Aliases & Classifications for Fazio Londe Syndrome

About this section
Sources:
42NIH Rare Diseases, 21GeneTests, 46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 62UMLS via Orphanet
See all sources

Fazio Londe Syndrome, Aliases & Descriptions:

Name: Fazio Londe Syndrome 42
Fazio-Londe Disease 42 21 46 48
Progressive Bulbar Paralysis of Childhood 42 48
Progressive Bulbar Palsy of Childhood 48 61
 
Bulbar Hereditary Motor Neuronopathy Type Ii 42
Fazio-Londe Syndrome 61
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 Orphanet62 C0015708, C0393540

Related Diseases for Fazio Londe Syndrome

About this section

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

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Fazio Londe Syndrome

Search NIH Clinical Center for Fazio Londe Syndrome

Genetic Tests for Fazio Londe Syndrome

About this section

Genetic tests related to Fazio Londe Syndrome:

id Genetic test Affiliating Genes
1 Fazio-Londe Disease21 SLC52A3

Anatomical Context for Fazio Londe Syndrome

About this section

MalaCards organs/tissues related to Fazio Londe Syndrome:

32
Eye

Animal Models for Fazio Londe Syndrome or affiliated genes

About this section

Publications for Fazio Londe Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Fazio Londe Syndrome:

7
id Gene Name Type Significance SNP ID Assembly Location
1SLC52A3SLC52A3, 1198A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Fazio Londe Syndrome

About this section
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

About this section

Compounds for genes affiliated with Fazio Londe Syndrome

About this section

GO Terms for genes affiliated with Fazio Londe Syndrome

About this section

Products for genes affiliated with Fazio Londe Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fazio Londe Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet